Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 (CMTX5)

Alias:

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Rosenberg-Chutorian Syndrome

Cmtx5

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

Optic Atrophy, Polyneuropathy, and Deafness

X-Linked Charcot-Marie-Tooth Disease Type 5

Optic Atrophy Polyneuropathy Deafness

Cmt5x

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

Optic Atrophy with Polyneuropathy and Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5, also known as charcot-marie-tooth disease x-linked recessive 5, is related to charcot-marie-tooth disease and charcot-marie-tooth disease type 5, and has symptoms including gait ataxia An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. Affiliated tissues include eye and retina, and related phenotypes are muscle weakness and hearing impairment

Related ID：

MALACARDS：CHR408

OMIM：311070

MESH：D002607