KEGG   DISEASE: H00946Help
Entry
H00946                      Disease                                

Name
Arts syndrome
Description
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.
Category
Developmental disorder; Nervous system disease
BRITE hierarchy
Pathway
Pentose phosphate pathway
Purine metabolism
Metabolic pathways
Gene
PRPS1 [HSA:5631] [KO:K00948]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20301738 (description, gene)
  Authors
de Brouwer APM, Duley JA, Christodoulou J
  Title
Arts Syndrome
  Journal
(1993)
Reference
  Authors
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H
  Title
Arts syndrome is caused by loss-of-function mutations in PRPS1.
  Journal
Am J Hum Genet 81:507-18 (2007)
Reference
  Authors
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
  Title
PRPS1 mutations: four distinct syndromes and potential treatment.
  Journal
Am J Hum Genet 86:506-18 (2010)

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