cholestasis, progressive familial intrahepatic, 6
MONDO:0030360Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- Bleeding requiring red cell transfusionHPOHP:0011888
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Intrahepatic cholestasisHPOHP:0001406
- 1 of 1 reported patient
- Periportal fibrosisHPOHP:0001405
- 1 of 1 reported patient
Genes
1 gene
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.
- SLC51AHGNC:29955
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: cholestasis, progressive familial intrahepatic, 6
- Also called
- PFIC6