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 9 free, full-text research articles on human participants. First 3 results:

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: 26 Feb 2016

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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: 22 Jan 2016

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Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
 

Author(s): Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang

Journal: World J. Gastroenterol.. 2014 Jan;20(1):326-9.

 

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the ...

Last Updated: 13 Jan 2014

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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: 28 Apr 2015

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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: 10 May 1994

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.