ARTS syndrome

Home » Classic Medicine » Syndromes » ARTS syndrome
ARTS syndrome2016-11-24T20:44:56+00:00

ARTS syndrome 

GENETICS  

Definition A hereditary disorder (OMIM:301835) characterised by ataxia, mental retardation, early-onset hypotonia, delayed motor development, hearing impairment, optic atrophy, and susceptibility to infections, especially upper respiratory, which can cause early death.

Molecular pathology Defects of PRPS1, which encodes an enzyme that catalyses a critical step in purine metabolism and nucleotide biosynthesis, cause ARTS syndrome. 

Synonyms Ataxia—fatal X-linked—with deafness and loss of vision, mental retardation—X-linked—syndromic type 18, mental retardation—X-linked—syndromic—ARTS type

References http://www.uniprot.org/uniprot/P60891

http://www.omim.org/entry/301835  

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.