Alagille syndrome due to a NOTCH2 point mutation
Findings
No curated finding names Alagille syndrome due to a NOTCH2 point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present.
Definition from the Mondo Disease Ontology (MONDO:0012439), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad foreheadHPOHP:0000337
- Renal insufficiencyHPOHP:0000083
- Triangular faceHPOHP:0000325
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NOTCH2HGNC:7882
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
5 names
Resolves to: Alagille syndrome due to a NOTCH2 point mutation
- Also called
- Alagille syndrome type 2Alagille syndrome-NOTCH2Alagille-Watson syndrome due to a NOTCH2 point mutationArteriohepatic dysplasia due to a NOTCH2 point mutationsyndromic bile duct paucity due to a NOTCH2 point mutation