Alagille syndrome

What it is

A rare developmental disease characterized by the variable association of chronic cholestasis due to paucity of intrahepatic bile ducts, congenital heart disease including pulmonary artery stenosis, butterfly-shaped vertebrae, posterior embryotoxon, characteristic facies, frequent growth retardation, glomerular/tubular kidney disease, and diffuse vascular arterial anomalies.

Key facts

Prevalence

1-9 / 100 000 (Australia)

Age of onset

All ages

Inheritance

Autosomal dominant

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes reported in subtypes

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references