Cholestasis, progressive familial intrahepatic, 5

Preferred Label : Cholestasis, progressive familial intrahepatic, 5;

Symbol : PFIC5;

CISMeF acronym : PFIC5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 1, group H, member 4 gene (NR1H4, 603826.0001);

Laboratory abnormalities : GGT is not increased; Abnormal liver enzymes; Hyperammonemia; Hypoglycemia; Increased alpha-fetoprotein;

Prefixed ID : #617049;

Details

Origin ID

617049;

UMLS CUI

C4310747;

CISMeF manual mappings
- Progressive familial intrahepatic cholestasis type 5 [ORDO Disease]
Currated CISMeF NLP mapping
- progressive familial intrahepatic cholestasis 5 [DO Concept]
DO Cross reference
- progressive familial intrahepatic cholestasis 5 [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 1, group h, member 4 [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Congenital onset [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Death in infancy [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Hyperammonemia [HPO term]
- Hypoglycemia [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Neonatal onset [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pleural effusion [HPO term]
- Prolonged prothrombin time [HPO term]
- Rapidly progressive [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
- Progressive familial intrahepatic cholestasis type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive familial intrahepatic cholestasis type 5 [ORDO Disease]

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