Alagille syndrome due to a JAG1 point mutation
Findings
No curated finding names Alagille syndrome due to a JAG1 point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.
Definition from the Mondo Disease Ontology (MONDO:0016862), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
27 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
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 4 of 4 reported patients
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
Show the remaining 15
- Peripheral pulmonary artery stenosisHPOHP:0004969
- 5 of 5 reported patients
- Reduced number of intrahepatic bile ductsHPOHP:0006571
- 4 of 4 reported patients
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Triangular faceHPOHP:0000325
- 1 of 1 reported patient
- Butterfly vertebral archHPOHP:0004617
- 1 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 4 reported patients
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.
- JAG1HGNC:6188
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: Alagille syndrome due to a JAG1 point mutation
- Also called
- Alagille syndrome type 1Alagille syndrome-JAG1Alagille-Watson syndrome due to a JAG1 point mutationarteriohepatic dysplasia due to a JAG1 point mutationsyndromic bile duct paucity due to a JAG1 point mutation