cholestasis, progressive familial intrahepatic, 13
MONDO:0975807Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 13 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
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
48 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 4 of 4 reported patients
- Bile duct proliferationHPOHP:0001408
- 1 of 1 reported patient
- Biliary cirrhosisHPOHP:0002613
- 3 of 3 reported patients
- CholangitisHPOHP:0030151
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 5 of 5 reported patients
- CirrhosisHPOHP:0001394
- 5 of 5 reported patients
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
Show the remaining 36
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 4 of 4 reported patients
- Fat malabsorptionHPOHP:0002630
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Global glomerulosclerosisHPOHP:0004737
- 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.
- PSKH1HGNC:9529
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2026