Cholestasis, progressive familial intrahepatic, 1

Preferred Label : Cholestasis, progressive familial intrahepatic, 1;

Symbol : PFIC1;

CISMeF acronym : PFIC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Byler disease;

Description : Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). - Genetic Heterogeneity of Progressive Familial Intrahepatic Cholestasis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, 602397.0001);

Laboratory abnormalities : Normal or mildly increased serum gamma-GGT (231950); Decreased serum cholesterol; Conjugated hyperbilirubinemia; Increased serum bile acids;

Prefixed ID : #211600;

Details

Origin ID

211600;

UMLS CUI

C4551898;

Automatic exact mappings (from CISMeF team)
- Byler disease [PASCAL descriptor]
- symbol withdrawn PFIC1 [HGNC gene]
Currated CISMeF NLP mapping
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 [ICD-11 More detail]
- Progressive familial intrahepatic cholestasis type 1 (disorder) [SNOMED CT concept]
- benign recurrent intrahepatic cholestasis 1 [Disease (Nov.)]
- cholestasis, progressive familial intrahepatic 1 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis 1 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 1 [DO Concept]
Genes related to phenotype
- Atpase, class I, type 8b, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cholelithiasis [HPO term]
- Cirrhosis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Diarrhea [HPO term]
- Dwarfism [HPO term]
- Epistaxis [HPO term]
- Failure to thrive [HPO term]
- Fat malabsorption [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Intrahepatic cholestasis with episodic jaundice [HPO term]
- Jaundice [HPO term]
- Juvenile onset [HPO term]
- Osteopenia [HPO term]
- Pruritus [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Wheezing [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Byler disease [MedDRA LLT]
- Cholestasis, progressive familial intrahepatic 1 [MeSH concept]
- Familial intrahepatic cholestasis [ORDO Disease]
- Progressive Familial Intrahepatic Cholestasis [NCIt concept]
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis [MedDRA Preferred Term]
- Progressive familial intrahepatic cholestasis type 1 [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 1 (disorder) [SNOMED CT concept]
- Progressive intrahepatic cholestasis (disorder) [SNOMED CT concept]
- cholestasis, progressive familial intrahepatic 1 [MeSH Supplementary Concept]
- progressive familial intrahepatic cholestasis [DO Concept]
- progressive intrahepatic cholestasis [SNOMED Notion]

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