Cytoscape Web
Click node...

Tetralogy of Fallot
1 OMIM reference -
9 associated genes
13 signs/symptoms
COMMON GENES: 1
Alagille syndrome due to 20p12 microdeletion
1 OMIM reference -
1 associated gene
No signs/symptoms info
Tetralogy of Fallot
Alagille syndrome due to 20p12 microdeletion

CITED2
(UniProt - OMIM)
 JAG1
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA5
(UniProt - OMIM)
GATA6
(UniProt - OMIM)
GDF1
(UniProt - OMIM)
GJA5
(UniProt - OMIM)
JAG1
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
ZFPM2
(UniProt - OMIM)

COMMON
GENES 		JAG1


Citations in the biomedical literature:


Tetralogy of Fallot
CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
JAG1 NKX2-5 ZFPM2
Alagille syndrome due to 20p12 microdeletion



Tetralogy of Fallot
Alagille syndrome due to 20p12 microdeletion

Synonym(s):
(no synonyms)

Synonym(s):
- Alagille syndrome due to del(20)(p12)
- Alagille syndrome due to monosomy 20p12
- Alagille-Watson syndrome due to monosomy 20p12
- Arteriohepatic dysplasia due to monosomy 20p12
- Syndromic bile duct paucity due to monosomy 20p12
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare oncologic disease
- Rare renal disease
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D013771
External references:
1 OMIM reference -
No MeSH references
Tetralogy of Fallot

Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes



Alagille syndrome due to 20p12 microdeletion

(no data available)