Details of Disease

General Information of Disease (ID: DISRQJH4)

• Disease Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
• Synonyms: arthrogryposis renal dysfunction cholestasis syndrome; arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; arthrogryposis - renal dysfunction - cholestasis; arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARC syndrome; arthrogryposis, renal dysfunction, and cholestasis; arthrogryposis-renal dysfunction-cholestasis
• Definition: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)
• Disease Hierarchy:
  DISV5DEN: Arthrogryposis multiplex congenita 2, neurogenic type
  DIS6SVEE: Syndromic disease
  DISMFQKM: Developmental anomaly of metabolic origin
  DISFGCQF: Inborn disorder of bilirubin metabolism
  DISRQJH4: Arthrogryposis-renal dysfunction-cholestasis syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017123
  UMLS CUI: C4551984
  MedGen ID: 1647210
  Orphanet ID: 2697
  SNOMED CT ID: 720513002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VIPAS39	OTBZMED0	Supportive	Autosomal recessive	[1]
VPS33B	OTMYRRNE	Supportive	Autosomal recessive	[1]
GFI1B	OTRDW8YO	Strong	Biomarker	[3]
GGTLC1	OTWJKUHQ	Strong	Altered Expression	[4]

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] Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr. 2014 Sep 20;40:77. doi: 10.1186/s13052-014-0077-3.
• [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] 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.
• [4] 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.