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Arthrogryposis with renal dysfunction and cholestasis syndrome(ARCS)

MedGen UID:
1647210
Concept ID:
C4551984
Disease or Syndrome
Synonyms: ARC syndrome; Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; Arthrogryposis-renal dysfunction-cholestasis syndrome
SNOMED CT: Arthrogryposis with renal dysfunction and cholestasis syndrome (720513002); ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome (720513002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017123
OMIM®: 208085
OMIM® Phenotypic series: PS208085
Orphanet: ORPHA2697

Definition

Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis with renal dysfunction and cholestasis syndrome

Professional guidelines

PubMed

Hahn JW, Lee H, Shin M, Seong MW, Moon JS, Ko JS
J Gastroenterol Hepatol 2024 May;39(5):964-974. Epub 2024 Feb 7 doi: 10.1111/jgh.16505. PMID: 38323732

Recent clinical studies

Etiology

Banushi B, Simpson F
Cells 2022 Nov 21;11(22) doi: 10.3390/cells11223702. PMID: 36429129Free PMC Article
Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P
Am J Case Rep 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. PMID: 34531360Free PMC Article
Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS
Hum Mutat 2019 Dec;40(12):2247-2257. Epub 2019 Sep 3 doi: 10.1002/humu.23770. PMID: 31479177
Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH
J Pediatr Orthop 2011 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83. PMID: 21150740
Choi HJ, Lee MW, Choi JH, Moon KC, Koh JK
Pediatr Dermatol 2005 Nov-Dec;22(6):539-42. doi: 10.1111/j.1525-1470.2005.00135.x. PMID: 16354257

Diagnosis

Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY, Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL, Kahr WHA
J Biol Chem 2023 Jun;299(6):104718. Epub 2023 Apr 14 doi: 10.1016/j.jbc.2023.104718. PMID: 37062417Free PMC Article
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M
Turk J Pediatr 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019. PMID: 29624233
Chen CH, Lo RW, Urban D, Pluthero FG, Kahr WH
Platelets 2017 Mar;28(2):147-154. Epub 2017 Feb 22 doi: 10.1080/09537104.2017.1280599. PMID: 28277061
Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, Tatli MM
Arch Argent Pediatr 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9. PMID: 26914089
Zhou Y, Zhang J
Ital J Pediatr 2014 Sep 20;40:77. doi: 10.1186/s13052-014-0077-3. PMID: 25239142Free PMC Article

Therapy

Weyand AC, Lombel RM, Pipe SW, Shavit JA
Pediatr Blood Cancer 2016 Mar;63(3):561-3. Epub 2015 Oct 27 doi: 10.1002/pbc.25814. PMID: 26505894Free PMC Article
Dehghani SM, Bahador A, Nikeghbalian S, Salahi H, Geramizadeh B, Malekpour A, Malek-Hosseini SA
Exp Clin Transplant 2013 Jun;11(3):290-2. Epub 2012 Nov 22 doi: 10.6002/ect.2012.0202. PMID: 23190456
Choi HJ, Lee MW, Choi JH, Moon KC, Koh JK
Pediatr Dermatol 2005 Nov-Dec;22(6):539-42. doi: 10.1111/j.1525-1470.2005.00135.x. PMID: 16354257
Hayes JA, Kahr WH, Lo B, Macpherson BA
Paediatr Anaesth 2004 Nov;14(11):960-3. doi: 10.1111/j.1460-9592.2004.01301.x. PMID: 15500499
Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM
Saudi Med J 2000 Mar;21(3):297-9. PMID: 11533803

Prognosis

Yu L, Li D, Zhang T, Xiao Y, Wang Y, Ge T
BMC Nephrol 2022 Jun 27;23(1):228. doi: 10.1186/s12882-022-02851-2. PMID: 35761207Free PMC Article
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M
Turk J Pediatr 2017;59(4):487-490. doi: 10.24953/turkjped.2017.04.019. PMID: 29624233
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P
J Invest Dermatol 2017 Apr;137(4):845-854. Epub 2016 Dec 23 doi: 10.1016/j.jid.2016.12.010. PMID: 28017832Free PMC Article
Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, Tatli MM
Arch Argent Pediatr 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9. PMID: 26914089
Arhan E, Yusufoğlu AM, Sayli TR
Eur J Pediatr 2009 Aug;168(8):995-8. Epub 2008 Oct 30 doi: 10.1007/s00431-008-0860-5. PMID: 18972129

Clinical prediction guides

Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY, Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL, Kahr WHA
J Biol Chem 2023 Jun;299(6):104718. Epub 2023 Apr 14 doi: 10.1016/j.jbc.2023.104718. PMID: 37062417Free PMC Article
Yu L, Li D, Zhang T, Xiao Y, Wang Y, Ge T
BMC Nephrol 2022 Jun 27;23(1):228. doi: 10.1186/s12882-022-02851-2. PMID: 35761207Free PMC Article
Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P
Am J Case Rep 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. PMID: 34531360Free PMC Article
Gupta V, Pandita A, Panghal A, Kallem V
BMJ Case Rep 2018 Aug 9;2018 doi: 10.1136/bcr-2017-223715. PMID: 30093463Free PMC Article
Wang JS, Zhao J, Li LT
World J Gastroenterol 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830. PMID: 24782640Free PMC Article

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