KEGG DISEASE: Arthrogryposis, renal dysfunction, and cholestasis

KEGG

DISEASE: Arthrogryposis, renal dysfunction, and cholestasis

Entry

H00950                      Disease

Name

Arthrogryposis, renal dysfunction, and cholestasis;
ARC syndrome

Description

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H00950  Arthrogryposis, renal dysfunction, and cholestasis

Gene

VPS33B [HSA:26276] [KO:K23281]
VIPAR [HSA:63894] [KO:K23287]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA

Title

ARC syndrome: an expanding range of phenotypes.

Journal

Arch Dis Child 85:415-20 (2001)
DOI:10.1136/adc.85.5.415

Reference

Authors

Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C

Title

Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

Journal

Eur J Pediatr 154:835-9 (1995)
DOI:10.1007/BF01959793

Reference

Authors

Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P

Title

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Journal

Nat Genet 42:303-12 (2010)
DOI:10.1038/ng.538

Reference

Authors

Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW

Title

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

Journal

J Pediatr Gastroenterol Nutr 48:348-54 (2009)
DOI:10.1097/MPG.0b013e31817fcb3f

Reference

Authors

Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS

Title

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.

Journal

J Pediatr 148:269-71 (2006)
DOI:10.1016/j.jpeds.2005.10.005

LinkDB

» Japanese version

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