Alagille syndrome due to a NOTCH2 point mutation

General Information (adopted from Orphanet):

Synonyms, Signs: ALGS2
Alagille-Watson syndrome due to a NOTCH2 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Number of Symptoms 8
OrphanetNr: 261629
OMIM Id: 610205
ICD-10: Q44.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Alagille syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare hepatic disease
 -Rare oncologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 16773578 IBIS 232 / 7739
2
 (HPO:0001947) Renal tubular acidosis 21 / 7739
3
 (HPO:0000337) Broad forehead 16773578 IBIS 116 / 7739
4
 (HPO:0000325) Triangular face 16773578 IBIS 91 / 7739
5
 (HPO:0001396) Cholestasis 136 / 7739
6
 (HPO:0001631) Atria septal defect 274 / 7739
7
 (HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal ...
Molecular genetics OMIM About 94% of patients with ALGS had been found to have mutations in the gene encoding the Notch signaling pathway ligand Jagged-1 (JAG1; 601920). McDaniell et al. (2006) screened 11 JAG1 mutation-negative probands with ALGS for alterations in ...