Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Arthrogryposis, renal dysfunction, and cholestasis 1

The ARC syndrome 1 is an autosomal recessive disorder caused by loss-of-funktion mutations of the VPS33B gene. The disorder is characterized by arthrogryposis (persisten flexure of a joint), renal dysfunction (metabolic acidosis), and cholestasis.

Epidemiology

Prevalence ist still unknown. About 100 cases are published so far.

Systematic

Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2

References:

1.

Gissen P et al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

external link
2.

Gissen P et al. (2006) Clinical and molecular genetic features of ARC syndrome.

external link
3.

Taha D et al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

external link
4.

Horslen SP et al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

external link
5.

Abu-Sa'da O et al. (2005) Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

external link
6.

None (2007) Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations.

external link
7.

Saraiva JM et al. (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant.

external link
8.

Di Rocco M et al. (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

external link
9.

Mikati MA et al. (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

external link
10.

Nezelof C et al. (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.

external link
11.

Di Rocco M et al. (1995) Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

external link
12.

OMIM.ORG article

Omim 208085 external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues