autosomal dominant polycystic liver disease

MONDO:0000447Mondo

Findings

No curated finding names autosomal dominant polycystic liver disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.

Definition from the Mondo Disease Ontology (MONDO:0000447), read 2026-09-29. CC BY 4.0.

Features

22 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.

Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
Polycystic liver diseaseHPOHP:0006557
- Very frequent (80% to 99% of cases)
Early satietyHPOHP:0033842
- Frequent (30% to 79% of cases)
Multiple renal cystsHPOHP:0005562
- Frequent (30% to 79% of cases)
Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
Abnormal heart valve morphologyHPOHP:0001654
- Occasional (5% to 29% of cases)
Abnormality of the pancreasHPOHP:0001732
- Occasional (5% to 29% of cases)
Abnormality of the respiratory systemHPOHP:0002086
- Occasional (5% to 29% of cases)
Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
Dilatation of the cerebral arteryHPOHP:0004944
- Occasional (5% to 29% of cases)
DyspneaHPOHP:0002094
- Occasional (5% to 29% of cases)

Show the remaining 10

Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Occasional (5% to 29% of cases)
Elevated gamma-glutamyltransferase levelHPOHP:0030948
- Occasional (5% to 29% of cases)
Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
Gastroesophageal refluxHPOHP:0002020
- Occasional (5% to 29% of cases)
Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
Increased total bilirubinHPOHP:0003573

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.

SEC16BHGNC:30301
- Moderate · PanelApp Australia · Autosomal dominant · 2025
SEC61BHGNC:16993
- Moderate · PanelApp Australia · Autosomal dominant · 2025

Where it sits

A kind of: autosomal dominant disease
liver disorder
Narrower terms (5): polycystic liver disease 1
polycystic liver disease 2
polycystic liver disease 3 with or without kidney cysts
polycystic liver disease 4 with or without kidney cysts
SEC61B-related polycystic liver disease

Other names

6 names

Resolves to: autosomal dominant polycystic liver disease

Also called: AD polycystic liver diseaseADPLDisolated congenital polycystic liver diseaseisolated polycystic liver diseasePCLDpolycystic liver disease