Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary malformations

Malformations are inborn morphological deviations from the normal body or organ structure. Such deformities show wide variability from non-disabling alterations to severe lethal disfigurement. Different organs and pody parts can be affected by a highly variable genetic background.

Systematic

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
Hereditary liver disease
Hereditary malformations
Bohring-Opitz syndrome
ASXL1
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
Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
KIF7
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1, A
IHH
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D
BMPR1B
Brachydactyly type A2
BMPR1B
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
NOG
Brachydactyly type C
GDF5
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Brachydactyly type E2
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome
GDF5
Branchio-oculo-facial syndrome
TFAP2A
Congenital contractural arachnodactyly
FBN2
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Hydrolethalus 2
KIF7
Lacrimoauriculodentodigital syndrome
FGF10
Multiple synostoses syndrome
Multiple synostoses syndrome 1
NOG
Multiple synostoses syndrome 2
GDF5
Multiple synostoses syndrome 3
FGF9
NOG
Multiple synostoses syndrome 3
FGF9
Orofacial cleft 11
BMP4
Orofaciodigital syndrome
Orofaciodigital syndrome 01
OFD1
Orofaciodigital syndrome 04
TCTN3
Orofaciodigital syndrome 06
CPLANE1
Orofaciodigital syndrome 16
TMEM107
Orofaciodigital syndrome 9
Periodontal Ehlers-Danlos syndrome
C1R
C1S
Proximal symphalangism
Proximal symphalangism 1A
NOG
Proximal symphalangism 1B
GDF5
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Stapes ankylosis with broad thumbs and toes
NOG
Syndactyly type 5
HOXD13
Synpolydactyly type 1
HOXD13
Tarsal-carpal coalition syndrome
NOG
Tatton-Brown-Rahman syndrome
DNMT3A
Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2
DACT1
Trigonocephaly 2
FREM1
Van Maldergem syndrome 2
FAT4
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension
Update: April 29, 2019