Hereditary diseases
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Disposition to infections
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Genetic alterations of drug tolerance
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Hereditary broncho-pulmonary disease
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Hereditary cardiac disease
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Hereditary dermatological disorders
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Hereditary diseases of the hematopoetic system and coagulopathies
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Hereditary endocrinological diseases
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Hereditary immunological disorders
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Hereditary kidney diseases
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Congenital abnormalities of the kidney and urinary tract
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Acro-renal-ocular syndrome
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SALL4
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Aplasia of lacrimal and salivary glands
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FGF10
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Autosomal dominant Robinow syndrome 1
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WNT5A
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Autosomal recessive Robinow syndrome
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ROR2
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BMP7
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BNAR syndrome
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FREM1
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Brain malformations with urinary tract defects
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NFIA
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Branchio-oculo-facial syndrome
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TFAP2A
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Branchiootic syndrome
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Branchiootic syndrome 1
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EYA1
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Branchiootic syndrome 3
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SIX1
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Branchiootorenal dysplasia
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Branchiootorenal dysplasia 1
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EYA1
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Branchiootorenal dysplasia 2
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SIX5
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SIX2
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Townes-Brocks branchiootorenal-like syndrome
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SALL1
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CHARGE syndrome
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CHD7
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SEMA3E
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TBX18
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CHD1L
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Congenital anomalies of kidney and urinary tract 1
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DSTYK
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Congenital anomalies of kidney and urinary tract 2
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TBX18
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Congenital hypogonadotropic hypogonadism with anosmia 1
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ANOS1
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Congenital hypogonadotropic hypogonadism without anosmia 5
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CHD7
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Denys-Drash syndrome
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WT1
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Fraser syndrome
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FRAS1
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FREM2
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GRIP1
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Frasier syndrome
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WT1
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Goldberg-Shprintzen syndrome
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KIF1BP
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IVIC syndrome
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SALL4
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Ivemark syndrome
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Renal-hepatic-pancreatic dysplasia 1
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NPHP3
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Renal-hepatic-pancreatic dysplasia 2
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NEK8
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Kabuki syndrome
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KDM6A
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Kabuki syndrome 1
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KMT2D
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Kabuki syndrome 2
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KDM6A
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Lacrimoauriculodentodigital syndrome
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FGF10
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Mowat-Wilson syndrome
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ZEB2
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Papillorenal syndrome
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PAX2
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Renal cysts and diabetes (RCAD)
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HNF1B
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Renal dysplasia with hypopituitarism and diabetes
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HNF1A
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Renal hypodysplasia/aplasia
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GREB1L
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Renal hypodysplasia/aplasia 1
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DSTYK
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ITGA8
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PAX2
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RET
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UPK3A
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Renal hypodysplasia/aplasia 2
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FGF20
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Renal tubular dysgenesis
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ACE
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AGT
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AGTR1
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REN
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SERKAL syndrome
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WNT4
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Simpson-Golabi-Behmel syndrome
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Simpson-Golabi-Behmel syndrome 1
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GPC3
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Simpson-Golabi-Behmel syndrome 2
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OFD1
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Smith-Lemli-Opitz syndrome
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DHCR7
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Somatic nephroblastoma
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GPC3
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WT1
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Susceptibility to cystic renal dysplasia
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BICC1
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Syndromic microphthalmia 6
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BMP4
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Urofacial syndrome
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HPSE2
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Vesicoureteral reflux
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Familial vesicoureteral reflux 2
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ROBO2
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Familial vesicoureteral reflux 3
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SOX17
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Familial vesicoureteral reflux 8
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TNXB
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WAGR syndrome
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PAX6
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WT1
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Cystic kidney disease
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Alagille syndrome 2
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NOTCH2
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Autosomal dominant polycystic kidney disease
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Polycystic kidney disease 1
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PKD1
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Polycystic kidney disease 2
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PKD2
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Polycystic kidney disease 3
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GANAB
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Polycystic kidney disease 6
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DNAJB11
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Autosomal recessive polycystic kidney and hepatic disease 1
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Polycystic kidney disease 4
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PKHD1
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Polycystic kidney disease 5
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DZIP1L
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Branchiootorenal dysplasia
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Branchiootorenal dysplasia 1
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EYA1
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Branchiootorenal dysplasia 2
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SIX5
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SIX2
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Townes-Brocks branchiootorenal-like syndrome
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SALL1
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Glomerulocystic kidney disease with hyperuricemia and isosthenuria
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HNF1B
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UMOD
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Hajdu-Cheney syndrome
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NOTCH2
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Medullary cystic disease complex
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Ciliopathy
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Acrocallosal syndrome
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KIF7
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COACH syndrome
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CC2D2A
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RPGRIP1L
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TMEM67
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Cranioectodermal dysplasia
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Cranioectodermal dysplasia 1
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IFT122
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Cranioectodermal dysplasia 2
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WDR35
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Cranioectodermal dysplasia 3
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IFT43
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Cranioectodermal dysplasia 4
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WDR19
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Joubert syndrome
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Joubert syndrome 01
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INPP5E
|
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Joubert syndrome 02
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TMEM216
|
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Joubert syndrome 03
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AHI1
|
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Joubert syndrome 04
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NPHP1
|
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Joubert syndrome 05
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CEP290
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Joubert syndrome 06
|
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TMEM67
|
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Joubert syndrome 07
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RPGRIP1L
|
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Joubert syndrome 08
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ARL13B
|
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Joubert syndrome 09
|
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CC2D2A
|
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Joubert syndrome 10
|
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OFD1
|
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Joubert syndrome 11
|
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TTC21B
|
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Joubert syndrome 12
|
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KIF7
|
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Joubert syndrome 13
|
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TCTN1
|
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Joubert syndrome 14
|
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TMEM237
|
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Joubert syndrome 15
|
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CEP41
|
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Joubert syndrome 16
|
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TMEM138
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Joubert syndrome 17
|
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CPLANE1
|
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Joubert syndrome 18
|
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TCTN3
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Joubert syndrome 19
|
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ZNF423
|
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Joubert syndrome 20
|
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|
|
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TMEM231
|
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Joubert syndrome 21
|
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CSPP1
|
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Joubert syndrome 22
|
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PDE6D
|
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Joubert syndrome 23
|
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KIAA0586
|
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Joubert syndrome 24
|
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|
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TCTN2
|
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Joubert syndrome 25
|
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CEP104
|
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Joubert syndrome 26
|
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KIAA0556
|
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Joubert syndrome 27
|
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B9D1
|
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Joubert syndrome 28
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MKS1
|
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Joubert syndrome 29
|
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|
|
|
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TMEM107
|
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Joubert syndrome 30
|
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|
|
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ARMC9
|
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Joubert syndrome 31
|
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CEP120
|
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Joubert syndrome 32
|
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|
|
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SUFU
|
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Joubert syndrome 33
|
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PIBF1
|
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Joubert syndrome 34
|
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B9D2
|
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Joubert syndrome 35
|
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ARL3
|
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Leber congenital amaurosis
|
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Leber congenital amaurosis 01
|
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GUCY2D
|
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Leber congenital amaurosis 02
|
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RPE65
|
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Leber congenital amaurosis 03
|
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SPATA7
|
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|
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Leber congenital amaurosis 04
|
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AIPL1
|
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Leber congenital amaurosis 05
|
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LCA5
|
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|
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Leber congenital amaurosis 06
|
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RPGRIP1
|
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Leber congenital amaurosis 07
|
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CRX
|
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Leber congenital amaurosis 08
|
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CRB1
|
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|
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Leber congenital amaurosis 09
|
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|
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|
NMNAT1
|
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|
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Leber congenital amaurosis 10
|
|
|
|
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|
|
CEP290
|
|
|
|
|
|
|
Leber congenital amaurosis 11
|
|
|
|
|
|
|
|
IMPDH1
|
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|
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|
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Leber congenital amaurosis 12
|
|
|
|
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|
|
|
RD3
|
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|
|
|
|
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Leber congenital amaurosis 13
|
|
|
|
|
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|
|
RDH12
|
|
|
|
|
|
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Leber congenital amaurosis 14
|
|
|
|
|
|
|
|
LRAT
|
|
|
|
|
|
|
Leber congenital amaurosis 15
|
|
|
|
|
|
|
|
TULP1
|
|
|
|
|
|
|
Leber congenital amaurosis 16
|
|
|
|
|
|
|
|
KCNJ13
|
|
|
|
|
|
|
Leber congenital amaurosis 17
|
|
|
|
|
|
|
|
GDF6
|
|
|
|
|
|
|
Leber congenital amaurosis 18
|
|
|
|
|
|
|
|
PRPH2
|
|
|
|
|
|
Left-right axis malformations
|
|
|
|
|
|
|
LEFTY2
|
|
|
|
|
|
Meckel syndrome
|
|
|
|
|
|
|
Meckel syndrome 02
|
|
|
|
|
|
|
|
TMEM216
|
|
|
|
|
|
|
Meckel syndrome 03
|
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
|
Meckel syndrome 05
|
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
Meckel syndrome 06
|
|
|
|
|
|
|
|
CC2D2A
|
|
|
|
|
|
|
Meckel syndrome 08
|
|
|
|
|
|
|
|
TCTN2
|
|
|
|
|
|
|
Meckel syndrome 09
|
|
|
|
|
|
|
|
B9D1
|
|
|
|
|
|
|
Meckel syndrome 10
|
|
|
|
|
|
|
|
B9D2
|
|
|
|
|
|
|
Meckel syndrome 11
|
|
|
|
|
|
|
|
TMEM231
|
|
|
|
|
|
|
Meckel syndrome 13
|
|
|
|
|
|
|
|
TMEM107
|
|
|
|
|
|
Mental retardation, truncal obesity, retinal dystrophy and micropenis
|
|
|
|
|
|
|
INPP5E
|
|
|
|
|
|
Nephronophthisis
|
|
|
|
|
|
|
Nephronophthisis 01
|
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
|
Nephronophthisis 02
|
|
|
|
|
|
|
|
INVS
|
|
|
|
|
|
|
Nephronophthisis 03
|
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
|
Nephronophthisis 04
|
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
|
Nephronophthisis 05
|
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
|
Nephronophthisis 06
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Nephronophthisis 07
|
|
|
|
|
|
|
|
GLIS2
|
|
|
|
|
|
|
Nephronophthisis 08
|
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
Nephronophthisis 09
|
|
|
|
|
|
|
|
NEK8
|
|
|
|
|
|
|
Nephronophthisis 10
|
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
|
Nephronophthisis 11
|
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
|
Nephronophthisis 12
|
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
|
Nephronophthisis 13
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Nephronophthisis 14
|
|
|
|
|
|
|
|
ZNF423
|
|
|
|
|
|
|
Nephronophthisis 15
|
|
|
|
|
|
|
|
CEP164
|
|
|
|
|
|
|
Nephronophthisis 16
|
|
|
|
|
|
|
|
ANKS6
|
|
|
|
|
|
|
Nephronophthisis 17
|
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
|
Nephronophthisis 18
|
|
|
|
|
|
|
|
CEP83
|
|
|
|
|
|
|
Nephronophthisis 19
|
|
|
|
|
|
|
|
DCDC2
|
|
|
|
|
|
|
Nephronophthisis 20
|
|
|
|
|
|
|
|
MAPKBP1
|
|
|
|
|
|
|
Nephronophthisis-like nephropathy 1
|
|
|
|
|
|
|
|
XPNPEP3
|
|
|
|
|
|
Orofaciodigital syndrome
|
|
|
|
|
|
|
Orofaciodigital syndrome 01
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
|
|
Orofaciodigital syndrome 04
|
|
|
|
|
|
|
|
TCTN3
|
|
|
|
|
|
|
Orofaciodigital syndrome 06
|
|
|
|
|
|
|
|
CPLANE1
|
|
|
|
|
|
|
Orofaciodigital syndrome 16
|
|
|
|
|
|
|
|
TMEM107
|
|
|
|
|
|
|
Orofaciodigital syndrome 9
|
|
|
|
|
|
Primary ciliary dyskinesia 3 with or without situs inversus
|
|
|
|
|
|
|
DNAH5
|
|
|
|
|
|
Retinitis pigmentosa
|
|
|
|
|
|
|
Retinitis pigmentosa 17
|
|
|
|
|
|
|
|
CA4
|
|
|
|
|
|
|
Retinitis pigmentosa 23
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
|
|
Retinitis pigmentosa and erythrocytic microcytosis
|
|
|
|
|
|
|
|
TRNT1
|
|
|
|
|
|
Senior-Loken syndrome
|
|
|
|
|
|
|
Senior-Loken syndrome 1
|
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
|
Senior-Loken syndrome 3
|
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
|
Senior-Loken syndrome 4
|
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
|
Senior-Loken syndrome 5
|
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
|
Senior-Loken syndrome 6
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Senior-Loken syndrome 7
|
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
|
Senior-Loken syndrome 8
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Senior-Loken syndrome 9
|
|
|
|
|
|
|
|
TRAF3IP1
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 01
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 02
|
|
|
|
|
|
|
|
IFT80
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 03
|
|
|
|
|
|
|
|
DYNC2H1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 04
|
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 05
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 06
|
|
|
|
|
|
|
|
NEK1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 07
|
|
|
|
|
|
|
|
WDR35
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 08
|
|
|
|
|
|
|
|
WDR60
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 09
|
|
|
|
|
|
|
|
IFT140
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 10
|
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 11
|
|
|
|
|
|
|
|
WDR34
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 12
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 13
|
|
|
|
|
|
|
|
CEP120
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 14
|
|
|
|
|
|
|
|
KIAA0586
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 15
|
|
|
|
|
|
|
|
DYNC2LI1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 16
|
|
|
|
|
|
|
|
IFT52
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 17
|
|
|
|
|
|
|
|
TCTEX1D2
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 18
|
|
|
|
|
|
|
|
IFT43
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 19
|
|
|
|
|
|
|
|
IFT81
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome
|
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome 1
|
|
|
|
|
|
|
|
GPC3
|
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome 2
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
Medullary cystic kidney disease
|
|
|
|
|
|
Medullary cystic kidney disease 1
|
|
|
|
|
|
|
MUC1
|
|
|
|
|
|
Medullary cystic kidney disease 2
|
|
|
|
|
|
|
UMOD
|
|
|
|
|
Nephronophthisis
|
|
|
|
|
|
Nephronophthisis 01
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
Nephronophthisis 02
|
|
|
|
|
|
|
INVS
|
|
|
|
|
|
Nephronophthisis 03
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
Nephronophthisis 04
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
Nephronophthisis 05
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
Nephronophthisis 06
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
Nephronophthisis 07
|
|
|
|
|
|
|
GLIS2
|
|
|
|
|
|
Nephronophthisis 08
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
Nephronophthisis 09
|
|
|
|
|
|
|
NEK8
|
|
|
|
|
|
Nephronophthisis 10
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
Nephronophthisis 11
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
Nephronophthisis 12
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
Nephronophthisis 13
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
Nephronophthisis 14
|
|
|
|
|
|
|
ZNF423
|
|
|
|
|
|
Nephronophthisis 15
|
|
|
|
|
|
|
CEP164
|
|
|
|
|
|
Nephronophthisis 16
|
|
|
|
|
|
|
ANKS6
|
|
|
|
|
|
Nephronophthisis 17
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
Nephronophthisis 18
|
|
|
|
|
|
|
CEP83
|
|
|
|
|
|
Nephronophthisis 19
|
|
|
|
|
|
|
DCDC2
|
|
|
|
|
|
Nephronophthisis 20
|
|
|
|
|
|
|
MAPKBP1
|
|
|
|
|
|
Nephronophthisis-like nephropathy 1
|
|
|
|
|
|
|
XPNPEP3
|
|
|
|
|
Senior-Loken syndrome
|
|
|
|
|
|
Senior-Loken syndrome 1
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
Senior-Loken syndrome 3
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
Senior-Loken syndrome 4
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
Senior-Loken syndrome 5
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
Senior-Loken syndrome 6
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
Senior-Loken syndrome 7
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
Senior-Loken syndrome 8
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
Senior-Loken syndrome 9
|
|
|
|
|
|
|
TRAF3IP1
|
|
|
|
Polycystic kidney disease with hyperinsulinemic hypoglycemia
|
|
|
|
|
PMM2
|
|
|
|
Renal cysts and diabetes (RCAD)
|
|
|
|
|
HNF1B
|
|
|
Disorders of tubular solute transport
|
|
|
|
Genetic disorders of proximal tubular function
|
|
|
|
|
Endocytotic disturbances of proximal tubular function
|
|
|
|
|
|
Donnai-Barrow syndrome
|
|
|
|
|
|
|
LRP2
|
|
|
|
|
|
Imerslund-Grasbeck syndrome
|
|
|
|
|
|
|
AMN
|
|
|
|
|
|
|
CUBN
|
|
|
|
|
Fanconi renotubular syndrome
|
|
|
|
|
|
Autosomal dominant idiopathic Fanconi syndrome
|
|
|
|
|
|
|
HNF4A
|
|
|
|
|
|
Fanconi renotubular syndrome 1
|
|
|
|
|
|
Fanconi renotubular syndrome 2
|
|
|
|
|
|
|
SLC34A1
|
|
|
|
|
|
Fanconi renotubular syndrome 3
|
|
|
|
|
|
|
EHHADH
|
|
|
|
|
Metabolic disturbances of proximal tubular function
|
|
|
|
|
|
Cystinosis
|
|
|
|
|
|
|
CTNS
|
|
|
|
|
|
Dent disease
|
|
|
|
|
|
|
CLCN5
|
|
|
|
|
|
|
OCRL
|
|
|
|
|
|
Fanconi renotubular syndrome
|
|
|
|
|
|
|
Autosomal dominant idiopathic Fanconi syndrome
|
|
|
|
|
|
|
|
HNF4A
|
|
|
|
|
|
|
Fanconi renotubular syndrome 1
|
|
|
|
|
|
|
Fanconi renotubular syndrome 2
|
|
|
|
|
|
|
|
SLC34A1
|
|
|
|
|
|
|
Fanconi renotubular syndrome 3
|
|
|
|
|
|
|
|
EHHADH
|
|
|
|
|
|
Fanconi-Bickel syndrome
|
|
|
|
|
|
|
SLC2A2
|
|
|
|
|
|
Fructose intolerance
|
|
|
|
|
|
|
ALDOB
|
|
|
|
|
|
Galactosemia
|
|
|
|
|
|
|
GALT
|
|
|
|
|
|
Glycogen storage disease 1
|
|
|
|
|
|
|
Glycogen storage disease 1A
|
|
|
|
|
|
|
|
G6PC
|
|
|
|
|
|
|
Glycogen storage disease 1B
|
|
|
|
|
|
|
|
SLC37A4
|
|
|
|
|
|
|
Glycogen storage disease 1C
|
|
|
|
|
|
|
|
SLC37A4
|
|
|
|
|
|
Hepatorenal tyrosinemia
|
|
|
|
|
|
|
FAH
|
|
|
|
|
|
Lowe disease
|
|
|
|
|
|
|
OCRL
|
|
|
|
|
|
MELAS syndrome
|
|
|
|
|
|
|
EHHADH
|
|
|
|
|
|
|
MT-ND1
|
|
|
|
|
|
|
MT-ND5
|
|
|
|
|
|
|
MT-ND6
|
|
|
|
|
|
|
MT-TC
|
|
|
|
|
|
|
MT-TH
|
|
|
|
|
|
|
MT-TK
|
|
|
|
|
|
|
MT-TQ
|
|
|
|
|
|
|
MT-TS1
|
|
|
|
|
|
|
MT-TS2
|
|
|
|
|
|
Wilson disease
|
|
|
|
|
|
|
ATP7B
|
|
|
|
|
Specific disturbances of proximal tubular transport
|
|
|
|
|
|
Aminoaciduria
|
|
|
|
|
|
|
Cystinuria
|
|
|
|
|
|
|
|
SLC3A1
|
|
|
|
|
|
|
|
SLC7A9
|
|
|
|
|
|
|
Dicarboxylic aminoaciduria
|
|
|
|
|
|
|
|
SLC1A1
|
|
|
|
|
|
|
Erythrocyte lactate transporter defect
|
|
|
|
|
|
|
|
SLC16A1
|
|
|
|
|
|
|
Fanconi renotubular syndrome
|
|
|
|
|
|
|
|
Autosomal dominant idiopathic Fanconi syndrome
|
|
|
|
|
|
|
|
|
HNF4A
|
|
|
|
|
|
|
|
Fanconi renotubular syndrome 1
|
|
|
|
|
|
|
|
Fanconi renotubular syndrome 2
|
|
|
|
|
|
|
|
|
SLC34A1
|
|
|
|
|
|
|
|
Fanconi renotubular syndrome 3
|
|
|
|
|
|
|
|
|
EHHADH
|
|
|
|
|
|
|
Fanconi-Bickel syndrome
|
|
|
|
|
|
|
|
SLC2A2
|
|
|
|
|
|
|
Hartnup disorder
|
|
|
|
|
|
|
|
SLC6A19
|
|
|
|
|
|
|
Hyperglycinuria
|
|
|
|
|
|
|
|
SLC36A2
|
|
|
|
|
|
|
|
SLC6A19
|
|
|
|
|
|
|
|
SLC6A20
|
|
|
|
|
|
|
Iminoglycinuria
|
|
|
|
|
|
|
|
SLC36A2
|
|
|
|
|
|
|
|
SLC6A19
|
|
|
|
|
|
|
|
SLC6A20
|
|
|
|
|
|
|
Lysinuric protein intolerance
|
|
|
|
|
|
|
|
SLC7A7
|
|
|
|
|
|
|
Monocarboxylate transporter 1 deficiency
|
|
|
|
|
|
|
|
SLC16A1
|
|
|
|
|
|
|
SLC36A1
|
|
|
|
|
|
|
SLC3A2
|
|
|
|
|
|
|
SLC6A18
|
|
|
|
|
|
|
SLC7A8
|
|
|
|
|
|
Disorders of the renal phosphate transporters
|
|
|
|
|
|
|
Hypophosphatemic rickets with hypercalciuria
|
|
|
|
|
|
|
|
SLC34A3
|
|
|
|
|
|
|
Idiopathic basal ganglia calcification 1
|
|
|
|
|
|
|
|
SLC20A2
|
|
|
|
|
|
|
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
|
|
|
|
|
|
|
|
SLC34A1
|
|
|
|
|
|
|
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
|
|
|
|
|
|
|
|
SLC9A3R1
|
|
|
|
|
|
Monosacchariduria
|
|
|
|
|
|
|
Fructosuria
|
|
|
|
|
|
|
|
KHK
|
|
|
|
|
|
|
Glucose-Galactose Malabsorption
|
|
|
|
|
|
|
|
SLC5A1
|
|
|
|
|
|
|
Renal Glucosuria
|
|
|
|
|
|
|
|
SLC5A2
|
|
|
|
|
|
Proximal renal tubular acidosis
|
|
|
|
|
|
|
SLC4A4
|
|
|
|
|
|
Renal Hypouricemia
|
|
|
|
|
|
|
SLC22A12
|
|
|
|
|
|
|
SLC2A9
|
|
|
|
Hereditary Salt-wasting tubulopathies
|
|
|
|
|
Bartter syndrome
|
|
|
|
|
|
Antenatal Bartter syndrome type 1
|
|
|
|
|
|
|
SLC12A1
|
|
|
|
|
|
Antenatal Bartter syndrome type 2
|
|
|
|
|
|
|
KCNJ1
|
|
|
|
|
|
Classic Bartter syndrome
|
|
|
|
|
|
|
CLCNKB
|
|
|
|
|
|
Hypercalciuric hypocalcemia 1
|
|
|
|
|
|
|
CASR
|
|
|
|
|
|
Hypercalciuric hypocalcemia 2
|
|
|
|
|
|
|
GNA11
|
|
|
|
|
|
Infantile Bartter syndrome with deafness type 4
|
|
|
|
|
|
|
BSND
|
|
|
|
|
|
|
CLCNKA
|
|
|
|
|
|
|
CLCNKB
|
|
|
|
|
|
Transient antenatal Bartter syndrome
|
|
|
|
|
|
|
MAGED2
|
|
|
|
|
EAST syndrome
|
|
|
|
|
|
KCNJ10
|
|
|
|
|
Gitelman syndrome
|
|
|
|
|
|
SLC12A3
|
|
|
|
|
Hypomagnesemia
|
|
|
|
|
|
EGFR
|
|
|
|
|
|
Gitelman syndrome
|
|
|
|
|
|
|
SLC12A3
|
|
|
|
|
|
Hereditary myokymia type 1
|
|
|
|
|
|
|
KCNA1
|
|
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis
|
|
|
|
|
|
|
CLDN16
|
|
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
|
|
|
|
|
|
|
CLDN19
|
|
|
|
|
|
Hypomagnesemia with normocalciuria
|
|
|
|
|
|
|
EGF
|
|
|
|
|
|
Intestinal hypomagnesemia with secondary hypocalcemia
|
|
|
|
|
|
|
TRPM6
|
|
|
|
|
|
Isolated dominant hypomagnesemia
|
|
|
|
|
|
|
FXYD2
|
|
|
|
|
|
PPI-induced Hypomagnesemia
|
|
|
|
|
|
|
TRPM6
|
|
|
|
|
|
Renal cysts and diabetes (RCAD)
|
|
|
|
|
|
|
HNF1B
|
|
|
|
|
|
Renal hypomagnesemia 6
|
|
|
|
|
|
|
CNNM2
|
|
|
|
|
|
TRPM7
|
|
|
|
Inherited disorders of calcium balance
|
|
|
|
|
Familial hypocalciuric hypercalcemia type 1
|
|
|
|
|
|
CASR
|
|
|
|
|
Familial hypocalciuric hypercalcemia type 2
|
|
|
|
|
|
GNA11
|
|
|
|
|
Familial hypocalciuric hypercalcemia type 3
|
|
|
|
|
|
AP2S1
|
|
|
|
|
Familial tumoral calcinosis
|
|
|
|
|
|
Familial normophosphatemic tumoral calcinosis
|
|
|
|
|
|
|
SAMD9
|
|
|
|
|
|
Hyperphosphatemic familial tumoral calcinosis
|
|
|
|
|
|
|
FGF23
|
|
|
|
|
|
|
GALNT3
|
|
|
|
|
|
|
KL
|
|
|
|
|
Hypophosphatasia
|
|
|
|
|
|
Adult hypophosphatasia
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
Childhood hypophosphatasia
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
Infantile hypophosphatasia
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
Odontohypophosphatasia
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
Infantile hypercalcemia
|
|
|
|
|
|
CYP24A1
|
|
|
|
Liddle syndrome
|
|
|
|
|
NEDD4
|
|
|
|
|
NEDD4L
|
|
|
|
|
NR3C2
|
|
|
|
|
OXSR1
|
|
|
|
|
SCNN1B
|
|
|
|
|
SCNN1G
|
|
|
|
|
STK39
|
|
|
|
Nephrogenic diabetes insipidus
|
|
|
|
|
AQP2
|
|
|
|
|
AVPR2
|
|
|
|
Pseudohypoaldosteronism
|
|
|
|
|
Pseudohypoaldosteronism type 2
|
|
|
|
|
|
CUL3
|
|
|
|
|
|
KLHL3
|
|
|
|
|
|
WNK1
|
|
|
|
|
|
WNK4
|
|
|
|
|
Pseudohypoaldosteronism type1
|
|
|
|
|
|
NR3C2
|
|
|
|
|
|
SCNN1A
|
|
|
|
|
|
SCNN1B
|
|
|
|
|
|
SCNN1G
|
|
|
|
Renal tubular acidosis
|
|
|
|
|
Combined renal tubular acidosis 3 with osteopetrosis 3
|
|
|
|
|
|
CA2
|
|
|
|
|
Distal renal tubular acidosis (autosomal dominant)
|
|
|
|
|
|
SLC4A1
|
|
|
|
|
Distal renal tubular acidosis (autosomal recessive)
|
|
|
|
|
|
ATP6V0A4
|
|
|
|
|
Distal renal tubular acidosis with deafness (autosomal recessive)
|
|
|
|
|
|
ATP6V1B1
|
|
|
|
|
Proximal renal tubular acidosis
|
|
|
|
|
|
SLC4A4
|
|
|
|
|
Renal tubular acidosis with arthrogryposis
|
|
|
|
|
|
Arthrogryposis, renal dysfunction, and cholestasis 1
|
|
|
|
|
|
|
VPS33B
|
|
|
|
|
|
Arthrogryposis, renal dysfunction, and cholestasis 2
|
|
|
|
|
|
|
VIPAS39
|
|
|
Hereditary glomerular disease
|
|
|
|
Fibronectin glomerulopathy
|
|
|
|
|
FN1
|
|
|
|
Glomerulonephritis
|
|
|
|
|
C3 glomerulopathy
|
|
|
|
|
|
C3 glomerulonephritis
|
|
|
|
|
|
|
ADAMTS13
|
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
|
C3
|
|
|
|
|
|
|
CD46
|
|
|
|
|
|
|
CFB
|
|
|
|
|
|
|
CFD
|
|
|
|
|
|
|
CFH
|
|
|
|
|
|
|
CFHR1
|
|
|
|
|
|
|
CFHR2
|
|
|
|
|
|
|
CFHR3
|
|
|
|
|
|
|
CFHR4
|
|
|
|
|
|
|
CFHR5
|
|
|
|
|
|
|
CFI
|
|
|
|
|
|
|
CLU
|
|
|
|
|
|
|
DGKE
|
|
|
|
|
|
|
PIGA
|
|
|
|
|
|
|
THBD
|
|
|
|
|
|
Dense deposit disease
|
|
|
|
|
|
|
ADAMTS13
|
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
|
C3
|
|
|
|
|
|
|
CD46
|
|
|
|
|
|
|
CFB
|
|
|
|
|
|
|
CFD
|
|
|
|
|
|
|
CFH
|
|
|
|
|
|
|
CFHR1
|
|
|
|
|
|
|
CFHR2
|
|
|
|
|
|
|
CFHR3
|
|
|
|
|
|
|
CFHR4
|
|
|
|
|
|
|
CFHR5
|
|
|
|
|
|
|
CFI
|
|
|
|
|
|
|
CLU
|
|
|
|
|
|
|
DGKE
|
|
|
|
|
|
|
PIGA
|
|
|
|
|
|
|
THBD
|
|
|
|
|
CFHR5 Nephropathy
|
|
|
|
|
|
CFHR5
|
|
|
|
|
Goodpasture syndrome
|
|
|
|
|
|
COL4A3
|
|
|
|
|
|
COL4A3BP
|
|
|
|
|
|
COL4A5
|
|
|
|
|
Lupus erythematosus nephritis
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
CFHR1
|
|
|
|
|
|
CFHR3
|
|
|
|
|
Membranoproliferative glomerulonephritis (MPGN)
|
|
|
|
|
|
ADAMTS13
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
C3
|
|
|
|
|
|
CD46
|
|
|
|
|
|
CFB
|
|
|
|
|
|
CFD
|
|
|
|
|
|
CFH
|
|
|
|
|
|
CFHR1
|
|
|
|
|
|
CFHR2
|
|
|
|
|
|
CFHR3
|
|
|
|
|
|
CFHR4
|
|
|
|
|
|
CFHR5
|
|
|
|
|
|
CFI
|
|
|
|
|
|
CLU
|
|
|
|
|
|
CR1 deficiency
|
|
|
|
|
|
|
CR1
|
|
|
|
|
|
Complement component C1q deficiency
|
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
Complement component C1s deficiency
|
|
|
|
|
|
|
C1S
|
|
|
|
|
|
DGKE
|
|
|
|
|
|
PIGA
|
|
|
|
|
|
THBD
|
|
|
|
|
Membranous nephropathy
|
|
|
|
|
|
HLA-DQA1
|
|
|
|
|
|
PLA2R1
|
|
|
|
|
Mesangioproliferative glomerulonephritis
|
|
|
|
|
|
CXCR1
|
|
|
|
|
|
Complement component C1q deficiency
|
|
|
|
|
|
|
C1QA
|
|
|
|
|
|
|
C1QB
|
|
|
|
|
|
|
C1QC
|
|
|
|
|
|
IgA nephropathy
|
|
|
|
|
|
|
CFHR1
|
|
|
|
|
|
|
CFHR3
|
|
|
|
|
|
|
CFHR5
|
|
|
|
|
|
|
IgA nephropathy type 1
|
|
|
|
|
|
|
IgA nephropathy type 2
|
|
|
|
|
|
|
IgA nephropathy type 3
|
|
|
|
|
|
|
|
SPRY2
|
|
|
|
|
|
Schimke Immunoosseous dysplasia
|
|
|
|
|
|
|
SMARCAL1
|
|
|
|
|
|
Wiskott–Aldrich syndrome
|
|
|
|
|
|
|
WAS
|
|
|
|
Glomerulosclerosis
|
|
|
|
|
Familial partial lipodystrophy type 2
|
|
|
|
|
|
LMNA
|
|
|
|
|
Focal, segmental glomerulosclerosis (FSGS)
|
|
|
|
|
|
ALG13
|
|
|
|
|
|
ARHGAP24
|
|
|
|
|
|
CLU
|
|
|
|
|
|
Hereditary FSGS type 1
|
|
|
|
|
|
|
ACTN4
|
|
|
|
|
|
Hereditary FSGS type 2
|
|
|
|
|
|
|
TRPC6
|
|
|
|
|
|
Hereditary FSGS type 3
|
|
|
|
|
|
|
CD2AP
|
|
|
|
|
|
Hereditary FSGS type 4
|
|
|
|
|
|
|
APOL1
|
|
|
|
|
|
Hereditary FSGS type 5
|
|
|
|
|
|
|
INF2
|
|
|
|
|
|
Hereditary FSGS type 6
|
|
|
|
|
|
|
MYO1E
|
|
|
|
|
|
Hereditary FSGS type 7
|
|
|
|
|
|
|
PAX2
|
|
|
|
|
|
Hereditary FSGS type 8
|
|
|
|
|
|
|
ANLN
|
|
|
|
|
|
Hereditary FSGS type 9
|
|
|
|
|
|
|
CRB2
|
|
|
|
|
|
ITGA9
|
|
|
|
|
|
LAMA5
|
|
|
|
|
|
NXF5
|
|
|
|
|
Frasier syndrome
|
|
|
|
|
|
WT1
|
|
|
|
|
Glycogen storage disease 1A
|
|
|
|
|
|
G6PC
|
|
|
|
|
Norum disease
|
|
|
|
|
|
LCAT
|
|
|
|
Lipoprotein glomerulopathy
|
|
|
|
|
APOE
|
|
|
|
Myoclonus-nephropathy syndrome
|
|
|
|
|
SCARB2
|
|
|
|
Nephritic syndrome
|
|
|
|
|
CFHR5 Nephropathy
|
|
|
|
|
|
CFHR5
|
|
|
|
|
Glomerular basement membrane disorders
|
|
|
|
|
|
Alport Syndrome
|
|
|
|
|
|
|
COL4A3
|
|
|
|
|
|
|
COL4A4
|
|
|
|
|
|
|
COL4A5
|
|
|
|
|
|
HANAC syndrome
|
|
|
|
|
|
|
COL4A1
|
|
|
|
|
|
|
COL4A2
|
|
|
|
|
|
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
|
|
|
|
|
|
|
COL4A5
|
|
|
|
|
|
|
COL4A6
|
|
|
|
|
|
MYH9 related disorders
|
|
|
|
|
|
|
Epstein syndrome
|
|
|
|
|
|
|
|
MYH9
|
|
|
|
|
|
|
Fechtner syndrome
|
|
|
|
|
|
|
|
MYH9
|
|
|
|
|
|
|
MYH9
|
|
|
|
|
|
|
Sebastian syndrome
|
|
|
|
|
|
|
|
MYH9
|
|
|
|
|
|
Nail-patella syndrome
|
|
|
|
|
|
|
LMX1B
|
|
|
|
|
|
Nephropathy with pretibial epidermolysis bullosa and deafness
|
|
|
|
|
|
|
CD151
|
|
|
|
|
|
PXDN
|
|
|
|
|
|
Thin basement membrane nephropathy
|
|
|
|
|
|
|
COL4A3
|
|
|
|
|
|
|
COL4A4
|
|
|
|
|
|
|
COL4A5
|
|
|
|
Nephrotic syndrome
|
|
|
|
|
Congenital nephrotic syndrome type 01 (Finnish type)
|
|
|
|
|
|
NPHS1
|
|
|
|
|
Congenital nephrotic syndrome type 02
|
|
|
|
|
|
NPHS2
|
|
|
|
|
Congenital nephrotic syndrome type 03
|
|
|
|
|
|
PLCE1
|
|
|
|
|
Congenital nephrotic syndrome type 04
|
|
|
|
|
|
WT1
|
|
|
|
|
Congenital nephrotic syndrome type 05 (Pierson syndrome)
|
|
|
|
|
|
LAMB2
|
|
|
|
|
Congenital nephrotic syndrome type 06
|
|
|
|
|
|
PTPRO
|
|
|
|
|
Congenital nephrotic syndrome type 07
|
|
|
|
|
|
DGKE
|
|
|
|
|
Congenital nephrotic syndrome type 08
|
|
|
|
|
|
ARHGDIA
|
|
|
|
|
Congenital nephrotic syndrome type 09
|
|
|
|
|
|
COQ8B
|
|
|
|
|
Congenital nephrotic syndrome type 10
|
|
|
|
|
|
EMP2
|
|
|
|
|
Congenital nephrotic syndrome type 11
|
|
|
|
|
|
NUP107
|
|
|
|
|
Congenital nephrotic syndrome type 12
|
|
|
|
|
|
NUP93
|
|
|
|
|
Congenital nephrotic syndrome type 13
|
|
|
|
|
|
NUP205
|
|
|
|
|
Congenital nephrotic syndrome type 14
|
|
|
|
|
|
SGPL1
|
|
|
|
|
Congenital nephrotic syndrome type 15
|
|
|
|
|
|
MAGI2
|
|
|
|
|
Congenital nephrotic syndrome type 16
|
|
|
|
|
|
KANK2
|
|
|
|
|
Congenital nephrotic syndrome type 17
|
|
|
|
|
|
NUP85
|
|
|
|
|
Congenital nephrotic syndrome type 18
|
|
|
|
|
|
NUP133
|
|
|
|
|
Congenital nephrotic syndrome type 19
|
|
|
|
|
|
NUP160
|
|
|
|
|
Congenital nephrotic syndrome type 20
|
|
|
|
|
|
TBC1D8B
|
|
|
|
|
Congenital nephrotic syndrome type 21
|
|
|
|
|
|
AVIL
|
|
|
|
|
Congenital nephrotic syndrome type 22
|
|
|
|
|
|
NOS1AP
|
|
|
|
|
Congenital nephrotic syndrome type 23
|
|
|
|
|
|
KIRREL1
|
|
|
|
|
Congenital nephrotic syndrome type 24
|
|
|
|
|
|
DAAM2
|
|
|
|
|
Donnai-Barrow syndrome
|
|
|
|
|
|
LRP2
|
|
|
|
|
GPC5
|
|
|
|
|
Glomerulotubular nephropathy
|
|
|
|
|
|
FAT1
|
|
|
|
|
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
|
|
|
|
|
|
ITGA3
|
|
|
|
|
Lipoprotein glomerulopathy
|
|
|
|
|
|
APOE
|
|
|
|
|
Schimke Immunoosseous dysplasia
|
|
|
|
|
|
SMARCAL1
|
|
|
|
|
XPO5
|
|
|
Hereditary metabolic kidney disease
|
|
|
|
Fabry disease
|
|
|
|
|
GLA
|
|
|
|
Hereditary amyloidosis
|
|
|
|
|
ATTR amyloidosis
|
|
|
|
|
|
TTR
|
|
|
|
|
Amyloidosis, cerebroarterial
|
|
|
|
|
|
Amyloidosis, cerebroarterial, Britisch type
|
|
|
|
|
|
|
ITM2B
|
|
|
|
|
|
Amyloidosis, cerebroarterial, Danish type
|
|
|
|
|
|
|
ITM2B
|
|
|
|
|
|
Amyloidosis, cerebroarterial, Dutch type
|
|
|
|
|
|
|
APP
|
|
|
|
|
|
Amyloidosis, cerebroarterial, Icelandic type
|
|
|
|
|
|
|
CST3
|
|
|
|
|
Cryopyrin-associated periodic syndrome
|
|
|
|
|
|
CINCA syndrome
|
|
|
|
|
|
|
NLRP3
|
|
|
|
|
|
Familial cold autoinflammatory syndrome 1
|
|
|
|
|
|
|
NLRP3
|
|
|
|
|
|
Muckle-Wells syndrome
|
|
|
|
|
|
|
NLRP3
|
|
|
|
|
Familial Mediterranean fever
|
|
|
|
|
|
MEFV
|
|
|
|
|
|
SAA1
|
|
|
|
|
|
TNFRSF1A
|
|
|
|
|
Finnish type Amyloidosis
|
|
|
|
|
|
GSN
|
|
|
|
|
Hereditary renal amyloidosis
|
|
|
|
|
|
APOA1
|
|
|
|
|
|
Apolipoprotein A-2 amyloidosis
|
|
|
|
|
|
|
APOA2
|
|
|
|
|
|
B2M
|
|
|
|
|
|
CST3
|
|
|
|
|
|
FGA
|
|
|
|
|
|
LYZ
|
|
|
|
Hyperoxaluria
|
|
|
|
|
Hyperoxaluria type 1
|
|
|
|
|
|
AGXT
|
|
|
|
|
Hyperoxaluria type 2
|
|
|
|
|
|
GRHPR
|
|
|
|
|
Hyperoxaluria type 3
|
|
|
|
|
|
HOGA1
|
|
|
|
Lysinuric protein intolerance
|
|
|
|
|
SLC7A7
|
|
|
Hereditary renal tumors
|
|
|
|
Hereditary leiomyomatosis and renal cell cancer
|
|
|
|
|
COL4A6
|
|
|
|
|
FH
|
|
|
|
Hereditary papillary renal cell carcinoma
|
|
|
|
|
Hereditary papillary renal cell carcinoma 1
|
|
|
|
|
|
MET
|
|
|
|
|
PRCC
|
|
|
|
Nonpapillary renal cell carcinoma
|
|
|
|
|
DIRC2
|
|
|
|
|
FLCN
|
|
|
|
|
HNF1A
|
|
|
|
|
HNF1B
|
|
|
|
|
OGG1
|
|
|
|
|
RNF139
|
|
|
|
|
VHL
|
|
|
|
Wilms tumor
|
|
|
|
|
Aniridia-Wilms-tumor syndrome
|
|
|
|
|
|
PAX6
|
|
|
|
|
|
WT1
|
|
|
|
|
Denys-Drash syndrome
|
|
|
|
|
|
WT1
|
|
|
|
|
Somatic nephroblastoma
|
|
|
|
|
|
GPC3
|
|
|
|
|
|
WT1
|
|
|
|
|
WAGR syndrome
|
|
|
|
|
|
PAX6
|
|
|
|
|
|
WT1
|
|
|
|
von Hippel-Lindau syndrome
|
|
|
|
|
VHL
|
|
|
Interstitial kidney disease
|
|
|
|
Alström syndrome
|
|
|
|
|
ALMS1
|
|
|
|
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
|
|
|
|
|
HNF1B
|
|
|
|
|
MUC1
|
|
|
|
|
REN
|
|
|
|
|
SEC61A1
|
|
|
|
|
UMOD
|
|
|
|
Bardet-Biedl syndrome
|
|
|
|
|
Bardet-Biedl syndrome 01
|
|
|
|
|
|
ARL6
|
|
|
|
|
|
BBS1
|
|
|
|
|
|
CCDC28B
|
|
|
|
|
|
TMEM67
|
|
|
|
|
Bardet-Biedl syndrome 02
|
|
|
|
|
|
BBS2
|
|
|
|
|
Bardet-Biedl syndrome 03
|
|
|
|
|
|
ARL6
|
|
|
|
|
Bardet-Biedl syndrome 04
|
|
|
|
|
|
BBS4
|
|
|
|
|
Bardet-Biedl syndrome 05
|
|
|
|
|
|
BBS5
|
|
|
|
|
Bardet-Biedl syndrome 06
|
|
|
|
|
|
MKKS
|
|
|
|
|
Bardet-Biedl syndrome 07
|
|
|
|
|
|
BBS7
|
|
|
|
|
Bardet-Biedl syndrome 08
|
|
|
|
|
|
TTC8
|
|
|
|
|
Bardet-Biedl syndrome 09
|
|
|
|
|
|
BBS9
|
|
|
|
|
Bardet-Biedl syndrome 10
|
|
|
|
|
|
BBS10
|
|
|
|
|
Bardet-Biedl syndrome 11
|
|
|
|
|
|
TRIM32
|
|
|
|
|
Bardet-Biedl syndrome 12
|
|
|
|
|
|
BBS12
|
|
|
|
|
Bardet-Biedl syndrome 13
|
|
|
|
|
|
MKS1
|
|
|
|
|
Bardet-Biedl syndrome 14
|
|
|
|
|
|
CEP290
|
|
|
|
|
Bardet-Biedl syndrome 15
|
|
|
|
|
|
WDPCP
|
|
|
|
|
Bardet-Biedl syndrome 16
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
Bardet-Biedl syndrome 17
|
|
|
|
|
|
LZTFL1
|
|
|
|
|
Bardet-Biedl syndrome 18
|
|
|
|
|
|
BBIP1
|
|
|
|
|
Bardet-Biedl syndrome 19
|
|
|
|
|
|
IFT27
|
|
|
|
|
Bardet-Biedl syndrome 20
|
|
|
|
|
|
IFT74
|
|
|
|
Hyperuricemic nephropathy
|
|
|
|
|
Hyperuricemic nephropathy, familial juvenile 1
|
|
|
|
|
|
UMOD
|
|
|
|
|
Hyperuricemic nephropathy, familial juvenile 2
|
|
|
|
|
|
REN
|
|
|
|
Karyomegalic interstitial nephritis
|
|
|
|
|
FAN1
|
|
|
|
Medullary cystic disease complex
|
|
|
|
|
Ciliopathy
|
|
|
|
|
|
Acrocallosal syndrome
|
|
|
|
|
|
|
KIF7
|
|
|
|
|
|
COACH syndrome
|
|
|
|
|
|
|
CC2D2A
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
Cranioectodermal dysplasia
|
|
|
|
|
|
|
Cranioectodermal dysplasia 1
|
|
|
|
|
|
|
|
IFT122
|
|
|
|
|
|
|
Cranioectodermal dysplasia 2
|
|
|
|
|
|
|
|
WDR35
|
|
|
|
|
|
|
Cranioectodermal dysplasia 3
|
|
|
|
|
|
|
|
IFT43
|
|
|
|
|
|
|
Cranioectodermal dysplasia 4
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
Joubert syndrome
|
|
|
|
|
|
|
Joubert syndrome 01
|
|
|
|
|
|
|
|
INPP5E
|
|
|
|
|
|
|
Joubert syndrome 02
|
|
|
|
|
|
|
|
TMEM216
|
|
|
|
|
|
|
Joubert syndrome 03
|
|
|
|
|
|
|
|
AHI1
|
|
|
|
|
|
|
Joubert syndrome 04
|
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
|
Joubert syndrome 05
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Joubert syndrome 06
|
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
|
Joubert syndrome 07
|
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
Joubert syndrome 08
|
|
|
|
|
|
|
|
ARL13B
|
|
|
|
|
|
|
Joubert syndrome 09
|
|
|
|
|
|
|
|
CC2D2A
|
|
|
|
|
|
|
Joubert syndrome 10
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
|
|
Joubert syndrome 11
|
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
|
Joubert syndrome 12
|
|
|
|
|
|
|
|
KIF7
|
|
|
|
|
|
|
Joubert syndrome 13
|
|
|
|
|
|
|
|
TCTN1
|
|
|
|
|
|
|
Joubert syndrome 14
|
|
|
|
|
|
|
|
TMEM237
|
|
|
|
|
|
|
Joubert syndrome 15
|
|
|
|
|
|
|
|
CEP41
|
|
|
|
|
|
|
Joubert syndrome 16
|
|
|
|
|
|
|
|
TMEM138
|
|
|
|
|
|
|
Joubert syndrome 17
|
|
|
|
|
|
|
|
CPLANE1
|
|
|
|
|
|
|
Joubert syndrome 18
|
|
|
|
|
|
|
|
TCTN3
|
|
|
|
|
|
|
Joubert syndrome 19
|
|
|
|
|
|
|
|
ZNF423
|
|
|
|
|
|
|
Joubert syndrome 20
|
|
|
|
|
|
|
|
TMEM231
|
|
|
|
|
|
|
Joubert syndrome 21
|
|
|
|
|
|
|
|
CSPP1
|
|
|
|
|
|
|
Joubert syndrome 22
|
|
|
|
|
|
|
|
PDE6D
|
|
|
|
|
|
|
Joubert syndrome 23
|
|
|
|
|
|
|
|
KIAA0586
|
|
|
|
|
|
|
Joubert syndrome 24
|
|
|
|
|
|
|
|
TCTN2
|
|
|
|
|
|
|
Joubert syndrome 25
|
|
|
|
|
|
|
|
CEP104
|
|
|
|
|
|
|
Joubert syndrome 26
|
|
|
|
|
|
|
|
KIAA0556
|
|
|
|
|
|
|
Joubert syndrome 27
|
|
|
|
|
|
|
|
B9D1
|
|
|
|
|
|
|
Joubert syndrome 28
|
|
|
|
|
|
|
|
MKS1
|
|
|
|
|
|
|
Joubert syndrome 29
|
|
|
|
|
|
|
|
TMEM107
|
|
|
|
|
|
|
Joubert syndrome 30
|
|
|
|
|
|
|
|
ARMC9
|
|
|
|
|
|
|
Joubert syndrome 31
|
|
|
|
|
|
|
|
CEP120
|
|
|
|
|
|
|
Joubert syndrome 32
|
|
|
|
|
|
|
|
SUFU
|
|
|
|
|
|
|
Joubert syndrome 33
|
|
|
|
|
|
|
|
PIBF1
|
|
|
|
|
|
|
Joubert syndrome 34
|
|
|
|
|
|
|
|
B9D2
|
|
|
|
|
|
|
Joubert syndrome 35
|
|
|
|
|
|
|
|
ARL3
|
|
|
|
|
|
Leber congenital amaurosis
|
|
|
|
|
|
|
Leber congenital amaurosis 01
|
|
|
|
|
|
|
|
GUCY2D
|
|
|
|
|
|
|
Leber congenital amaurosis 02
|
|
|
|
|
|
|
|
RPE65
|
|
|
|
|
|
|
Leber congenital amaurosis 03
|
|
|
|
|
|
|
|
SPATA7
|
|
|
|
|
|
|
Leber congenital amaurosis 04
|
|
|
|
|
|
|
|
AIPL1
|
|
|
|
|
|
|
Leber congenital amaurosis 05
|
|
|
|
|
|
|
|
LCA5
|
|
|
|
|
|
|
Leber congenital amaurosis 06
|
|
|
|
|
|
|
|
RPGRIP1
|
|
|
|
|
|
|
Leber congenital amaurosis 07
|
|
|
|
|
|
|
|
CRX
|
|
|
|
|
|
|
Leber congenital amaurosis 08
|
|
|
|
|
|
|
|
CRB1
|
|
|
|
|
|
|
Leber congenital amaurosis 09
|
|
|
|
|
|
|
|
NMNAT1
|
|
|
|
|
|
|
Leber congenital amaurosis 10
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Leber congenital amaurosis 11
|
|
|
|
|
|
|
|
IMPDH1
|
|
|
|
|
|
|
Leber congenital amaurosis 12
|
|
|
|
|
|
|
|
RD3
|
|
|
|
|
|
|
Leber congenital amaurosis 13
|
|
|
|
|
|
|
|
RDH12
|
|
|
|
|
|
|
Leber congenital amaurosis 14
|
|
|
|
|
|
|
|
LRAT
|
|
|
|
|
|
|
Leber congenital amaurosis 15
|
|
|
|
|
|
|
|
TULP1
|
|
|
|
|
|
|
Leber congenital amaurosis 16
|
|
|
|
|
|
|
|
KCNJ13
|
|
|
|
|
|
|
Leber congenital amaurosis 17
|
|
|
|
|
|
|
|
GDF6
|
|
|
|
|
|
|
Leber congenital amaurosis 18
|
|
|
|
|
|
|
|
PRPH2
|
|
|
|
|
|
Left-right axis malformations
|
|
|
|
|
|
|
LEFTY2
|
|
|
|
|
|
Meckel syndrome
|
|
|
|
|
|
|
Meckel syndrome 02
|
|
|
|
|
|
|
|
TMEM216
|
|
|
|
|
|
|
Meckel syndrome 03
|
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
|
Meckel syndrome 05
|
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
Meckel syndrome 06
|
|
|
|
|
|
|
|
CC2D2A
|
|
|
|
|
|
|
Meckel syndrome 08
|
|
|
|
|
|
|
|
TCTN2
|
|
|
|
|
|
|
Meckel syndrome 09
|
|
|
|
|
|
|
|
B9D1
|
|
|
|
|
|
|
Meckel syndrome 10
|
|
|
|
|
|
|
|
B9D2
|
|
|
|
|
|
|
Meckel syndrome 11
|
|
|
|
|
|
|
|
TMEM231
|
|
|
|
|
|
|
Meckel syndrome 13
|
|
|
|
|
|
|
|
TMEM107
|
|
|
|
|
|
Mental retardation, truncal obesity, retinal dystrophy and micropenis
|
|
|
|
|
|
|
INPP5E
|
|
|
|
|
|
Nephronophthisis
|
|
|
|
|
|
|
Nephronophthisis 01
|
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
|
Nephronophthisis 02
|
|
|
|
|
|
|
|
INVS
|
|
|
|
|
|
|
Nephronophthisis 03
|
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
|
Nephronophthisis 04
|
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
|
Nephronophthisis 05
|
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
|
Nephronophthisis 06
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Nephronophthisis 07
|
|
|
|
|
|
|
|
GLIS2
|
|
|
|
|
|
|
Nephronophthisis 08
|
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
|
Nephronophthisis 09
|
|
|
|
|
|
|
|
NEK8
|
|
|
|
|
|
|
Nephronophthisis 10
|
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
|
Nephronophthisis 11
|
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
|
Nephronophthisis 12
|
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
|
Nephronophthisis 13
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Nephronophthisis 14
|
|
|
|
|
|
|
|
ZNF423
|
|
|
|
|
|
|
Nephronophthisis 15
|
|
|
|
|
|
|
|
CEP164
|
|
|
|
|
|
|
Nephronophthisis 16
|
|
|
|
|
|
|
|
ANKS6
|
|
|
|
|
|
|
Nephronophthisis 17
|
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
|
Nephronophthisis 18
|
|
|
|
|
|
|
|
CEP83
|
|
|
|
|
|
|
Nephronophthisis 19
|
|
|
|
|
|
|
|
DCDC2
|
|
|
|
|
|
|
Nephronophthisis 20
|
|
|
|
|
|
|
|
MAPKBP1
|
|
|
|
|
|
|
Nephronophthisis-like nephropathy 1
|
|
|
|
|
|
|
|
XPNPEP3
|
|
|
|
|
|
Orofaciodigital syndrome
|
|
|
|
|
|
|
Orofaciodigital syndrome 01
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
|
|
Orofaciodigital syndrome 04
|
|
|
|
|
|
|
|
TCTN3
|
|
|
|
|
|
|
Orofaciodigital syndrome 06
|
|
|
|
|
|
|
|
CPLANE1
|
|
|
|
|
|
|
Orofaciodigital syndrome 16
|
|
|
|
|
|
|
|
TMEM107
|
|
|
|
|
|
|
Orofaciodigital syndrome 9
|
|
|
|
|
|
Primary ciliary dyskinesia 3 with or without situs inversus
|
|
|
|
|
|
|
DNAH5
|
|
|
|
|
|
Retinitis pigmentosa
|
|
|
|
|
|
|
Retinitis pigmentosa 17
|
|
|
|
|
|
|
|
CA4
|
|
|
|
|
|
|
Retinitis pigmentosa 23
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
|
|
Retinitis pigmentosa and erythrocytic microcytosis
|
|
|
|
|
|
|
|
TRNT1
|
|
|
|
|
|
Senior-Loken syndrome
|
|
|
|
|
|
|
Senior-Loken syndrome 1
|
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
|
Senior-Loken syndrome 3
|
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
|
Senior-Loken syndrome 4
|
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
|
Senior-Loken syndrome 5
|
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
|
Senior-Loken syndrome 6
|
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
|
Senior-Loken syndrome 7
|
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
|
Senior-Loken syndrome 8
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Senior-Loken syndrome 9
|
|
|
|
|
|
|
|
TRAF3IP1
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 01
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 02
|
|
|
|
|
|
|
|
IFT80
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 03
|
|
|
|
|
|
|
|
DYNC2H1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 04
|
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 05
|
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 06
|
|
|
|
|
|
|
|
NEK1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 07
|
|
|
|
|
|
|
|
WDR35
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 08
|
|
|
|
|
|
|
|
WDR60
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 09
|
|
|
|
|
|
|
|
IFT140
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 10
|
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 11
|
|
|
|
|
|
|
|
WDR34
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 12
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 13
|
|
|
|
|
|
|
|
CEP120
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 14
|
|
|
|
|
|
|
|
KIAA0586
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 15
|
|
|
|
|
|
|
|
DYNC2LI1
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 16
|
|
|
|
|
|
|
|
IFT52
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 17
|
|
|
|
|
|
|
|
TCTEX1D2
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 18
|
|
|
|
|
|
|
|
IFT43
|
|
|
|
|
|
|
Short-rib thoracic dysplasia with or without polydactyly 19
|
|
|
|
|
|
|
|
IFT81
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome
|
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome 1
|
|
|
|
|
|
|
|
GPC3
|
|
|
|
|
|
|
Simpson-Golabi-Behmel syndrome 2
|
|
|
|
|
|
|
|
OFD1
|
|
|
|
|
Medullary cystic kidney disease
|
|
|
|
|
|
Medullary cystic kidney disease 1
|
|
|
|
|
|
|
MUC1
|
|
|
|
|
|
Medullary cystic kidney disease 2
|
|
|
|
|
|
|
UMOD
|
|
|
|
|
Nephronophthisis
|
|
|
|
|
|
Nephronophthisis 01
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
Nephronophthisis 02
|
|
|
|
|
|
|
INVS
|
|
|
|
|
|
Nephronophthisis 03
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
Nephronophthisis 04
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
Nephronophthisis 05
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
Nephronophthisis 06
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
Nephronophthisis 07
|
|
|
|
|
|
|
GLIS2
|
|
|
|
|
|
Nephronophthisis 08
|
|
|
|
|
|
|
RPGRIP1L
|
|
|
|
|
|
Nephronophthisis 09
|
|
|
|
|
|
|
NEK8
|
|
|
|
|
|
Nephronophthisis 10
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
Nephronophthisis 11
|
|
|
|
|
|
|
TMEM67
|
|
|
|
|
|
Nephronophthisis 12
|
|
|
|
|
|
|
TTC21B
|
|
|
|
|
|
Nephronophthisis 13
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
Nephronophthisis 14
|
|
|
|
|
|
|
ZNF423
|
|
|
|
|
|
Nephronophthisis 15
|
|
|
|
|
|
|
CEP164
|
|
|
|
|
|
Nephronophthisis 16
|
|
|
|
|
|
|
ANKS6
|
|
|
|
|
|
Nephronophthisis 17
|
|
|
|
|
|
|
IFT172
|
|
|
|
|
|
Nephronophthisis 18
|
|
|
|
|
|
|
CEP83
|
|
|
|
|
|
Nephronophthisis 19
|
|
|
|
|
|
|
DCDC2
|
|
|
|
|
|
Nephronophthisis 20
|
|
|
|
|
|
|
MAPKBP1
|
|
|
|
|
|
Nephronophthisis-like nephropathy 1
|
|
|
|
|
|
|
XPNPEP3
|
|
|
|
|
Senior-Loken syndrome
|
|
|
|
|
|
Senior-Loken syndrome 1
|
|
|
|
|
|
|
NPHP1
|
|
|
|
|
|
Senior-Loken syndrome 3
|
|
|
|
|
|
|
NPHP3
|
|
|
|
|
|
Senior-Loken syndrome 4
|
|
|
|
|
|
|
NPHP4
|
|
|
|
|
|
Senior-Loken syndrome 5
|
|
|
|
|
|
|
IQCB1
|
|
|
|
|
|
Senior-Loken syndrome 6
|
|
|
|
|
|
|
CEP290
|
|
|
|
|
|
Senior-Loken syndrome 7
|
|
|
|
|
|
|
SDCCAG8
|
|
|
|
|
|
Senior-Loken syndrome 8
|
|
|
|
|
|
|
WDR19
|
|
|
|
|
|
Senior-Loken syndrome 9
|
|
|
|
|
|
|
TRAF3IP1
|
|
|
Kidney disease appearing as endocrinological disorders
|
|
|
|
Liddle syndrome
|
|
|
|
|
NEDD4
|
|
|
|
|
NEDD4L
|
|
|
|
|
NR3C2
|
|
|
|
|
OXSR1
|
|
|
|
|
SCNN1B
|
|
|
|
|
SCNN1G
|
|
|
|
|
STK39
|
|
|
|
Nephrogenic diabetes insipidus
|
|
|
|
|
AQP2
|
|
|
|
|
AVPR2
|
|
|
|
Pseudohypoaldosteronism
|
|
|
|
|
Pseudohypoaldosteronism type 2
|
|
|
|
|
|
CUL3
|
|
|
|
|
|
KLHL3
|
|
|
|
|
|
WNK1
|
|
|
|
|
|
WNK4
|
|
|
|
|
Pseudohypoaldosteronism type1
|
|
|
|
|
|
NR3C2
|
|
|
|
|
|
SCNN1A
|
|
|
|
|
|
SCNN1B
|
|
|
|
|
|
SCNN1G
|
|
|
|
Pseudohypoparathyroidism
|
|
|
|
|
Albright hereditary osteodystrophy
|
|
|
|
|
|
GNAS
|
|
|
|
|
Pseudohypoparathyroidism type IB
|
|
|
|
|
|
GNAS
|
|
|
|
|
|
GNAS-AS1
|
|
|
|
|
|
STX16
|
|
|
Thrombotic microangiopathies
|
|
|
|
Hemolytic-Uremic Syndrome
|
|
|
|
|
ADAMTS13
|
|
|
|
|
C3
|
|
|
|
|
C4BPA
|
|
|
|
|
C4BPB
|
|
|
|
|
CD46
|
|
|
|
|
CFB
|
|
|
|
|
CFH
|
|
|
|
|
CFHR1
|
|
|
|
|
CFHR2
|
|
|
|
|
CFHR3
|
|
|
|
|
CFHR4
|
|
|
|
|
CFHR5
|
|
|
|
|
CFI
|
|
|
|
|
CLU
|
|
|
|
|
DGKE
|
|
|
|
|
Methylmalonic aciduria
|
|
|
|
|
|
Methylmalonic aciduria and homocystinuria cblC
|
|
|
|
|
|
|
MMACHC
|
|
|
|
|
|
Methylmalonic aciduria and homocystinuria cblD
|
|
|
|
|
|
|
MMADHC
|
|
|
|
|
|
Methylmalonic aciduria type mut
|
|
|
|
|
|
|
MUT
|
|
|
|
|
PIGA
|
|
|
|
|
PLG
|
|
|
|
|
THBD
|
|
|
|
Poor response to Eculizumab
|
|
|
|
|
C5
|
|
|
|
Thrombotic Thrombocytopenic Purpura
|
|
|
|
|
ADAMTS13
|
|
|
Urolithiasis
|
|
|
|
Cystinuria
|
|
|
|
|
SLC3A1
|
|
|
|
|
SLC7A9
|
|
|
|
Dicarboxylic aminoaciduria
|
|
|
|
|
SLC1A1
|
|
|
|
Dihydroxyadenin urolithiasis
|
|
|
|
|
APRT
|
|
|
|
Nephrocalcinosis
|
|
|
|
|
Bartter syndrome
|
|
|
|
|
|
Antenatal Bartter syndrome type 1
|
|
|
|
|
|
|
SLC12A1
|
|
|
|
|
|
Antenatal Bartter syndrome type 2
|
|
|
|
|
|
|
KCNJ1
|
|
|
|
|
|
Classic Bartter syndrome
|
|
|
|
|
|
|
CLCNKB
|
|
|
|
|
|
Hypercalciuric hypocalcemia 1
|
|
|
|
|
|
|
CASR
|
|
|
|
|
|
Hypercalciuric hypocalcemia 2
|
|
|
|
|
|
|
GNA11
|
|
|
|
|
|
Infantile Bartter syndrome with deafness type 4
|
|
|
|
|
|
|
BSND
|
|
|
|
|
|
|
CLCNKA
|
|
|
|
|
|
|
CLCNKB
|
|
|
|
|
|
Transient antenatal Bartter syndrome
|
|
|
|
|
|
|
MAGED2
|
|
|
|
|
Dent disease
|
|
|
|
|
|
CLCN5
|
|
|
|
|
|
OCRL
|
|
|
|
|
Hereditary Rickets
|
|
|
|
|
|
Hypophosphatasia
|
|
|
|
|
|
|
Adult hypophosphatasia
|
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
|
Childhood hypophosphatasia
|
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
|
Infantile hypophosphatasia
|
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
|
Odontohypophosphatasia
|
|
|
|
|
|
|
|
ALPL
|
|
|
|
|
|
Hypophosphatemic bone and kindney disease
|
|
|
|
|
|
|
Disorders of the renal phosphate transporters
|
|
|
|
|
|
|
|
Hypophosphatemic rickets with hypercalciuria
|
|
|
|
|
|
|
|
|
SLC34A3
|
|
|
|
|
|
|
|
Idiopathic basal ganglia calcification 1
|
|
|
|
|
|
|
|
|
SLC20A2
|
|
|
|
|
|
|
|
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
|
|
|
|
|
|
|
|
|
SLC34A1
|
|
|
|
|
|
|
|
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
|
|
|
|
|
|
|
|
|
SLC9A3R1
|
|
|
|
|
|
|
FGF23-induced hypophosphatemic rickets
|
|
|
|
|
|
|
|
Autosomal dominant hypophosphatemic rickets
|
|
|
|
|
|
|
|
|
FGF23
|
|
|
|
|
|
|
|
Autosomal recessive hypophosphatemic rickets type 1
|
|
|
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DMP1
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Autosomal recessive hypophosphatemic rickets type 2
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ENPP1
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X-linked dominant hypophosphatemic rickets
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PHEX
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Fanconi-type hypophosphatemic rickets
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Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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SLC34A1
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X-linked recessive hypophosphatemic rickets
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CLCN5
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OCRL
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Hypophosphatemic rickets with hyperparathyroidism
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KL
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Osteoglophonic dysplasia
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FGFR1
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Raine syndrome
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FAM20C
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X-linked dominant hypophosphatemic rickets
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PHEX
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Vitamin D hydroxylation-deficient rickets type 1A
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CYP27B1
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Vitamin D hydroxylation-deficient rickets type 1B
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CYP2R1
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Vitamin D-dependent rickets, type 2A
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VDR
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Vitamin D-dependent rickets, type 2B
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RXRA
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Hyperoxaluria
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Hyperoxaluria type 1
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AGXT
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Hyperoxaluria type 2
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GRHPR
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Hyperoxaluria type 3
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HOGA1
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Hypomagnesemia with hypercalciuria and nephrocalcinosis
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CLDN16
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Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
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CLDN19
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Infantile hypercalcemia
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CYP24A1
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Lowe disease
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OCRL
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Renal tubular acidosis
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Combined renal tubular acidosis 3 with osteopetrosis 3
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CA2
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Distal renal tubular acidosis (autosomal dominant)
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SLC4A1
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Distal renal tubular acidosis (autosomal recessive)
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ATP6V0A4
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Distal renal tubular acidosis with deafness (autosomal recessive)
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ATP6V1B1
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Proximal renal tubular acidosis
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SLC4A4
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Renal tubular acidosis with arthrogryposis
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Arthrogryposis, renal dysfunction, and cholestasis 1
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VPS33B
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Arthrogryposis, renal dysfunction, and cholestasis 2
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VIPAS39
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Williams-Beuren syndrome
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ELN
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Nephrolithiasis diarrhea syndrome
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SLC26A6
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Susceptibility to nephrolithiasis
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ALPL
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CASR
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SLC26A1
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TRPV5
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ZNF365
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Uric acid nephropathy
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Hyperuricemic nephropathy
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Hyperuricemic nephropathy, familial juvenile 1
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UMOD
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Hyperuricemic nephropathy, familial juvenile 2
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REN
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Kelley-Seegmiller syndrome
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HPRT1
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Lesch-Nyhan syndrome
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HPRT1
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Renal Hypouricemia
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SLC22A12
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SLC2A9
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Hereditary liver disease
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Hereditary malformations
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Hereditary metabolic diseases
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Hereditary musculoskeletal diseases
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Hereditary neurological disorders
|
|
Hereditary ocular disease and visual impairment
|
|
Hereditary otorhinolaryngological disorders
|
|
Hereditary pancreatic disease
|
|
Hereditary tumors
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|
Hereditary vascular disease
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|
Hypertension
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