Literature DB >> 16155421

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

Omar Abu-Sa'da1, Maha Barbar, Naffaa Al-Harbi, Doris Taha.   

Abstract

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.

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Year:  2005        PMID： 16155421     DOI： 10.1097/00019605-200510000-00005

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  9 in total

Review 1.  Recognition and diagnosis of neuro-ichthyotic syndromes.

Authors:  William B Rizzo; Sabrina Malone Jenkens; Philip Boucher
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

2.  Metazoan cell biology of the HOPS tethering complex.

Authors:  Stephanie A Zlatic; Karine Tornieri; Steven W L'hernault; Victor Faundez
Journal:  Cell Logist       Date:  2011-05

3.  ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Authors:  Jian-She Wang; Jing Zhao; Li-Ting Li
Journal:  World J Gastroenterol       Date:  2014-04-28       Impact factor: 5.742

4.  Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase.

Authors:  Jian Zhang; Charles Tracy; Chandrashekhar Pasare; Jinsheng Zeng; Helmut Krämer
Journal:  Traffic       Date:  2020-08-03       Impact factor: 6.215

Review 5.  Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Authors:  Ebru Arhan; Arzu Meltem Yusufoğlu; Tülin Revide Sayli
Journal:  Eur J Pediatr       Date:  2008-10-30       Impact factor: 3.183

Review 6.  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Authors:  Yaoyao Zhou; Junfeng Zhang
Journal:  Ital J Pediatr       Date:  2014-09-20       Impact factor: 2.638

Review 7.  Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Authors:  Robert Gruber; Clare Rogerson; Christian Windpassinger; Blerida Banushi; Anna Straatman-Iwanowska; Joanna Hanley; Federico Forneris; Robert Strohal; Peter Ulz; Debra Crumrine; Gopinathan K Menon; Stefan Blunder; Matthias Schmuth; Thomas Müller; Holly Smith; Kevin Mills; Peter Kroisel; Andreas R Janecke; Paul Gissen
Journal:  J Invest Dermatol       Date:  2016-12-23       Impact factor: 8.551

8.  VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.

Authors:  Clare Rogerson; Paul Gissen
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2018-01-31       Impact factor: 5.187

9.  Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.

Authors:  Natália Duarte Linhares; Eleonora Druve Tavares Fagundes; Alexandre Rodrigues Ferreira; Thaís Costa Nascentes Queiroz; Luiz Roberto da Silva; Sergio D J Pena
Journal:  Front Genet       Date:  2022-02-25       Impact factor: 4.599
  9 in total

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