" /> Charcot-marie-tooth disease, X-linked recessive, 5 - CISMeF





Preferred Label : Charcot-marie-tooth disease, X-linked recessive, 5;

Symbol : CMTX5;

CISMeF acronym : CMTX5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rosenberg-chutorian syndrome; Optic atrophy, polyneuropathy, and deafness; Charcot-marie-tooth neuropathy, X-linked recessive, 5;

Description : The phenotype of X-linked Charcot-Marie-Tooth disease-5 comprises the triad of optic atrophy, deafness, and polyneuropathy. See 165199 and 258650 for possible autosomal dominant and autosomal recessive forms of the disorder. For a discussion of genetic heterogeneity of X-linked Charcot-Marie-Tooth disease, see CMTX1 (302800).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1, 311850.0009);

Prefixed ID : #311070;

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04/05/2025


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