Charcot-marie-tooth disease, X-linked recessive, 5

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;

Détails

Origin ID

311070;

UMLS CUI

C1839566;

Automatic exact mappings (from CISMeF team)
- Optic atrophy polyneuropathy deafness [MeSH concept]
- optic atrophy polyneuropathy deafness [MeSH Supplementary Concept]
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
- phosphoribosyl pyrophosphate synthetase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- X-linked Charcot-Marie-Tooth disease type 5 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
Genes related to phenotype
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Childhood onset [HPO term]
- Decreased phosphoribosylpyrophosphate synthetase level [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Gait disturbance [HPO term]
- Hearing impairment [HPO term]
- Motor delay [HPO term]
- Onion bulb formation [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Polyneuropathy [HPO term]
- Progressive visual loss [HPO term]
- Rod-cone dystrophy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Sensorineural hearing impairment [HPO term]
- Usually autosomal dominant [HPO term]
- Variable expressivity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked recessive 5 [DO Concept]
- Optic atrophy polyneuropathy deafness [MeSH concept]
- X-linked Charcot-Marie-Tooth disease type 5 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 5 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 5 (disorder) [SNOMED CT concept]
- optic atrophy polyneuropathy deafness [MeSH Supplementary Concept]

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