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;
Origin ID : 311070;
UMLS CUI : C1839566;
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)