Arts Syndrome (ARTS)

Alias:

Ataxia, Fatal X-Linked, with Deafness and Loss of Vision

Lethal Ataxia with Deafness and Optic Atrophy

Mrxsarts

Mrxs18

Arts

Fatal X-Linked Ataxia with Deafness and Loss of Vision

Lethal Ataxia with Hearing Loss and Optic Atrophy

Mental Retardation, X-Linked, Syndromic, Arts Type

Syndromic X-Linked Mental Retardation Arts Type

Mental Retardation, X-Linked, Syndromic 18

Syndromic X-Linked Mental Retardation 18

Ataxia-Deafness-Optic Atrophy, Lethal

Art

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arts Syndrome, also known as ataxia, fatal x-linked, with deafness and loss of vision, is related to charcot-marie-tooth disease type 5 and urolithiasis, and has symptoms including ataxia, seizures and unspecified visual loss. An important gene associated with Arts Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. The drugs Ethanol and Eugenol have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are muscle weakness and visual impairment

Related ID：

MALACARDS：ART002

OMIM：301835

MESH：C535388