Charcot-marie-tooth disease and deafness

Preferred Label : Charcot-marie-tooth disease and deafness;

CISMeF acronym : CMT1E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, demyelinating, type 1e; CMT1E; Charcot-marie-tooth neuropathy and deafness, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0010);

Prefixed ID : #118300;

Details

Origin ID

118300;

UMLS CUI

C3495591;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease and deafness [MeSH concept]
- Charcot-Marie-Tooth disease and deafness [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Charcot-Marie-Tooth disease type IE (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH concept]
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 1E [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 1E [DO Concept]
Genes related to phenotype
- Peripheral myelin protein 22 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased motor nerve conduction velocity [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]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Limb muscle weakness [HPO term]
- Pes cavus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Talipes calcaneovalgus [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH concept]

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