Details of Disease | DrugMAP

General Information of Disease (ID: DISMOIC2)

Disease Name	Arthrogryposis, renal dysfunction, and cholestasis 2
Synonyms	ARCS2; arthrogryposis, renal dysfunction, and cholestasis 2; VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome; arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39; arthrogryposis, renal dysfunction, and cholestasis type 2
Definition	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.
Disease Hierarchy	DISRQJH4: Arthrogryposis-renal dysfunction-cholestasis syndrome DISMOIC2: Arthrogryposis, renal dysfunction, and cholestasis 2
Disease Identifiers	MONDO ID MONDO_0013255 UMLS CUI C3150672 OMIM ID 613404 MedGen ID 462022

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
VIPAS39	OTBZMED0	Definitive	Autosomal recessive	[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.