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

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]

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]

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.