Alagille syndrome

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Alagille syndrome due to 20p12 microdeletion

ORPHA:261600Etiological subtype

Also called Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12 · Alagille-Watson syndrome due to monosomy 20p12 · Arteriohepatic dysplasia due to monosomy 20p12 · Syndromic bile duct paucity due to monosomy 20p12

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Not applicable
Classified as
Etiological subtype

Recorded for the broader condition

Prevalence
1-9 / 100 000 (Australia)Alagille syndrome
Age of onset
All agesAlagille syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

JAG1Role in the phenotype of

ICD-10 codes

Q44.7filed under a broader ICD-10 category — shared with 3 other rare diseases

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

MONDO 0016861OMIM 118450UMLS C5679679

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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