Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Common Name(s)

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].
 

Author(s): Da-Gui Huang, Jia-Jia Liu, Li Guo, Yuan-Zong Song

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct;19(10):1077-1082.

 

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old ...

Last Updated: 31 Dec 1969

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Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.
 

Author(s): Ozkan Ilhan, Esra A Ozer, Senem A Ozdemir, Sinem Akbay, Seyma Memur, Berat Kanar, Mustafa M Tatli

Journal: Arch Argent Pediatr. 2016 Feb;114(1):e9-12.

 

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction ...

Last Updated: 31 Dec 1969

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The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.
 

Author(s): Angela C Weyand, Rebecca M Lombel, Steven W Pipe, Jordan A Shavit

Journal: Pediatr Blood Cancer. 2016 Mar;63(3):561-3.

 

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare disorder associated with platelet abnormalities resembling gray platelet syndrome. Affected patients have normal platelet numbers but abnormal morphology and function. Bleeding symptomatology ranges from postprocedural ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

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

Author(s): Yaoyao Zhou, Junfeng Zhang

Journal:

 

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. ...

Last Updated: 31 Dec 1969

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Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
 

Author(s): S P Horslen, O W Quarrell, M S Tanner

Journal: J. Med. Genet.. 1994 Jan;31(1):62-4.

 

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.