Details of Disease

General Information of Disease (ID: DISYK31B)

Disease Name Polycystic kidney disease 3 with or without polycystic liver disease
Synonyms
PKD3; autosomal dominant polycystic kidney disease caused by mutation in GANAB; Apkd3; polycystic kidney disease 3; polycystic kidney disease, type 3; polycystic kidney disease 3 with or without polycystic liver disease; polycystic kidney disease, adult, type III; GANAB autosomal dominant polycystic kidney disease; polycystic kidney disease, adult, type 3; polycystic kidney disease 3, autosomal dominant; Pkd3; polycystic kidney disease type 3
Definition Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.
Disease Hierarchy
DISBHWUI: Autosomal dominant polycystic kidney disease
DISYK31B: Polycystic kidney disease 3 with or without polycystic liver disease
Disease Identifiers
MONDO ID
MONDO_0010916
UMLS CUI
C3887964
OMIM ID
600666
MedGen ID
854672

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GANAB DEMWKYT Strong Biomarker [1]
GANAB DEMWKYT Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PKD1 OT5ALRZ5 Strong Genetic Variation [3]
GANAB OTYLXY4M Definitive Autosomal dominant [2]
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References

1 Isolated polycystic liver disease genes define effectors of polycystin-1 function.J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1.
2 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.
3 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23.