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Alagille syndrome due to a NOTCH2 point mutation
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Acroosteolysis dominant type
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Isolated NADH-CoQ reductase deficiency
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Tetralogy of Fallot
Congenital lethal myopathy, Compton-North type
Adams-Oliver syndrome
Congenital glaucoma
Distal 22q11.2 microdeletion syndrome
Heritable pulmonary arterial hypertension
Juvenile glaucoma
Autosomal recessive spondylocostal dysostosis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Leigh syndrome with leukodystrophy
Synonym(s):
- Alagille-Watson syndrome due to a NOTCH2 point mutation
- Arteriohepatic dysplasia due to a NOTCH2 point mutation
- Syndromic bile duct paucity due to a NOTCH2 point mutation
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 -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NOTCH2 Q04721600275
No signs/symptoms info available.