Details of Disease

General Information of Disease (ID: DISF25HM)

Disease Name Polycystic liver disease 2
Synonyms polycystic liver disease 2 with or without kidney cysts; PCLD2; polycystic liver disease type 2; polycystic liver disease 2; polycystic liver disease 2; PCLD2
Definition Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
Disease Hierarchy
DISJS005: Autosomal dominant polycystic liver disease
DISF25HM: Polycystic liver disease 2
Disease Identifiers
MONDO ID
MONDO_0014860
UMLS CUI
C4310769
OMIM ID
617004
MedGen ID
934736

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SEC63 OT1ICPMK Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.