Preferred Label : Arts syndrome;
Symbol : ARTS;
CISMeF acronym : MRXSARTS; ARTS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, X-linked, syndromic, arts type; Mental retardation, X-linked, syndromic 18; MRXSARTS; MRXS18; Ataxia, fatal X-linked, with deafness and loss of vision;
Description : Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset
hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy
(de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory
tract, can result in early death.;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1, 311850.0011);
Laboratory abnormalities : Reduced serum uric acid; Undetectable urinary hypoxanthine; Decreased PRPP synthetase activity in erythrocytes and fibroblasts;
Prefixed ID : #301835;
Origin ID : 301835;
UMLS CUI : C0796028;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)