Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary kidney diseases

This group contains all types of hereditary kidney disease.

Systematic

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Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
SALL4
Aplasia of lacrimal and salivary glands
FGF10
Autosomal dominant Robinow syndrome 1
WNT5A
Autosomal recessive Robinow syndrome
ROR2
BMP7
BNAR syndrome
FREM1
Brain malformations with urinary tract defects
NFIA
Branchio-oculo-facial syndrome
TFAP2A
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
CHARGE syndrome
CHD7
SEMA3E
TBX18
CHD1L
Congenital anomalies of kidney and urinary tract 1
DSTYK
Congenital anomalies of kidney and urinary tract 2
TBX18
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
WT1
Goldberg-Shprintzen syndrome
KIF1BP
IVIC syndrome
SALL4
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Lacrimoauriculodentodigital syndrome
FGF10
Mowat-Wilson syndrome
ZEB2
Papillorenal syndrome
PAX2
Renal cysts and diabetes (RCAD)
HNF1B
Renal dysplasia with hypopituitarism and diabetes
HNF1A
Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
ACE
AGT
AGTR1
REN
SERKAL syndrome
WNT4
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Smith-Lemli-Opitz syndrome
DHCR7
Somatic nephroblastoma
GPC3
WT1
Susceptibility to cystic renal dysplasia
BICC1
Syndromic microphthalmia 6
BMP4
Urofacial syndrome
HPSE2
Vesicoureteral reflux
Familial vesicoureteral reflux 2
ROBO2
Familial vesicoureteral reflux 3
SOX17
Familial vesicoureteral reflux 8
TNXB
WAGR syndrome
PAX6
WT1
Cystic kidney disease
Alagille syndrome 2
NOTCH2
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 1
PKD1
Polycystic kidney disease 2
PKD2
Polycystic kidney disease 3
GANAB
Polycystic kidney disease 6
DNAJB11
Autosomal recessive polycystic kidney and hepatic disease 1
Polycystic kidney disease 4
PKHD1
Polycystic kidney disease 5
DZIP1L
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
HNF1B
UMOD
Hajdu-Cheney syndrome
NOTCH2
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
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
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2
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
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
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
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
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