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

Renal tubular acidosis with arthrogryposis

Renal tubular acidosis with arthrogryposis is an autosomal recessive disorder with proximal tubular damage and defective position of joints.

Symptoms

Malposition
With the ARC syndrome an arthrogryposis is pathognomonic.
Proximal tubular damage syndrome
Renal tubular acidosis in ARC syndrome is part of the Fanconi syndrom and therefore proximal.
Proteinuria
Proteinuria pattern in ARC syndrome indicates glomerular in addition to the pathognomonic tubular damage.

Systematic

Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
Distal renal tubular acidosis (autosomal dominant)
Distal renal tubular acidosis (autosomal recessive)
Distal renal tubular acidosis with deafness (autosomal recessive)
Proximal renal tubular acidosis
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39

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.

Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

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.

Smith H et al. (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

external link
13.

Zhou Y et al. (2014) Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

external link
14.

Holme A et al. (2013) Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 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 | Website Credits