cirrhosis, familial
MONDO:0007329Mondo
Findings
No curated finding names cirrhosis, familial yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cirrhosis in which no causative agent can be identified.
Definition from the Mondo Disease Ontology (MONDO:0007329), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset
HPO, annotations 2026-09-02
Features
7 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.
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Esophageal varixHPOHP:0002040
- 1 of 1 reported patient
- CirrhosisHPOHP:0001394
- 3 of 6 reported patients
- Biliary cirrhosisHPOHP:0002613
- 1 of 5 reported patients
- Fulminant hepatitisHPOHP:0004787
- 1 of 5 reported patients
- Increased level of L-fucose in urineHPOHP:0410067
- Increased level of propylene glycol in bloodHPOHP:0410069
Genes
3 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.
- KRT18HGNC:6430
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- KRT8HGNC:6446
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
- UTP4HGNC:1983
- Disputed Evidence · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: cirrhosis, familial
- Also called
- cryptogenic cirrhosishereditary cirrhosis of liver