Details of Disease

General Information of Disease (ID: DISRS2RG)

Disease Name Arthrogryposis, renal dysfunction, and cholestasis 1
Synonyms
ARCS1; Arc syndrome; VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome; arthrogryposis, renal dysfunction, and cholestasis type 1; arthrogryposis, renal dysfunction, and cholestasis 1; arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B
Definition Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
Disease Hierarchy
DISRQJH4: Arthrogryposis-renal dysfunction-cholestasis syndrome
DISRS2RG: Arthrogryposis, renal dysfunction, and cholestasis 1
Disease Identifiers
MONDO ID
MONDO_0008822
MESH ID
C535382
UMLS CUI
C1859722
OMIM ID
208085
MedGen ID
347219

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VPS33B OTMYRRNE Definitive Autosomal recessive [1]
ARC OTN2QQPG Strong Biomarker [3]
GFI1B OTRDW8YO Strong Biomarker [4]
GGTLC1 OTWJKUHQ Strong Altered Expression [5]
TMUB1 OTR4RO3N Strong Genetic Variation [6]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AVPR2 TTK8R02 moderate Genetic Variation [2]
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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.
2 Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?.Am J Med Genet. 1997 Oct 31;72(3):335-8.
3 ARC syndrome in preterm baby.J Perinatol. 2013 Oct;33(10):821-2. doi: 10.1038/jp.2013.62.
4 Should any genetic defect affecting -granules in platelets be classified as gray platelet syndrome?.Am J Hematol. 2016 Jul;91(7):714-8. doi: 10.1002/ajh.24359. Epub 2016 Apr 26.
5 ARC syndrome with high GGT cholestasis caused by VPS33B mutations.World J Gastroenterol. 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830.
6 CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease.J Cell Sci. 2019 May 15;132(10):jcs189134. doi: 10.1242/jcs.189134.