Polycystic liver disease 1 with or without kidney cysts

Preferred Label : Polycystic liver disease 1 with or without kidney cysts;

Symbol : PCLD1;

CISMeF acronym : PCLD1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase C substrate, 80-kD heavy chain gene (PRKCSH, 177060.0001);

Laboratory abnormalities : Slightly increased serum alkaline phosphatase may occur; Increased total bilirubin may occur; Lower total cholesterol; Lower triglycerides;

Prefixed ID : #174050;

Details

Origin ID

174050;

UMLS CUI

C0887850;

DO Cross reference
- polycystic liver disease [DO Concept]
Genes related to phenotype
- Protein kinase C substrate, 80-kd, heavy chain [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Abnormality of the nervous system [HPO term]
- Adult onset [HPO term]
- Ascites [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Dyspnea [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Increased total bilirubin [HPO term]
- Increased total bilirubin may occur [HPO term]
- Polycystic liver disease [HPO term]
- Renal cyst [HPO term]
Not associated HPO term(s)
- Dilatation of the cerebral artery [HPO term]
ORDO concept(s)
- Isolated polycystic liver disease [ORDO Disease]
See also inter- (CISMeF)
- Autosomal Dominant Polycystic Kidney Disease Type I [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult type polycystic kidney disease type 1 (disorder) [SNOMED CT concept]
- Autosomal Dominant Polycystic Kidney Disease Type I [NCIt concept]
- polycystic kidney, type 1 autosomal dominant disease [MeSH concept]
Validated automatic mappings to NTBT
- Congenital cystic disease of liver (disorder) [SNOMED CT concept]
- Isolated polycystic liver disease [ORDO Disease]
- Isolated polycystic liver disease (disorder) [SNOMED CT concept]
- Polycystic Liver Disease [NCIt concept]
- Polycystic liver disease [HPO term]
- Polycystic liver disease [MedDRA Preferred Term]
- Polycystic liver disease [MeSH concept]
- congenital cystic disease of liver [MedDRA Preferred Term]
- polycystic liver [Disease (Nov.)]
- polycystic liver disease [DO Concept]
- polycystic liver disease [MeSH Supplementary Concept]

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