Alagille syndrome
Findings
No curated finding names Alagille syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Definition from the Mondo Disease Ontology (MONDO:0007318), read 2026-09-29. CC BY 4.0.
Features
43 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.
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Reduced number of intrahepatic bile ductsHPOHP:0006571
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Butterfly vertebral archHPOHP:0004617
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Long noseHPOHP:0003189
- Frequent (30% to 79% of cases)
Show the remaining 31
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- Frequent (30% to 79% of cases)
- Spina bifida occultaHPOHP:0003298
- Frequent (30% to 79% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
Other names
3 names
Resolves to: Alagille syndrome
- Also called
- Alagille-Watson syndromeArteriohepatic dysplasiasyndromic bile duct paucity