Charcot-marie-tooth disease, demyelinating, type 1d

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 1d;

Symbol : CMT1D;

CISMeF acronym : CMT1D; HMSN1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hmsn id; Charcot-marie-tooth neuropathy, type 1d; HMSN1D; Hereditary motor and sensory neuropathy 1d;

Description : For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the early growth response-2 gene (EGR2, 129010.0002);

Prefixed ID : #607678;

Details

Origin ID

607678;

UMLS CUI

C1843247;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 1D [ICD-11 More detail]
- EGR2 wt Allele [NCIt concept]
- charcot-marie-tooth disease [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1D [DO Concept]
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
- Charcot-Marie-Tooth disease type ID (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 1D [MeSH concept]
- Charcot-Marie-Tooth disease, type 1D [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 1D [DO Concept]
Genes related to phenotype
- Early growth response 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [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]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Heterogeneous [HPO term]
- Juvenile onset [HPO term]
- Peripheral neuropathy [HPO term]
- Steppage gait [HPO term]
- Upper limb muscle weakness [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
- Charcot-Marie-Tooth disease type 1D [DO Concept]
- Charcot-Marie-Tooth disease type ID (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 1D [MeSH concept]
- Charcot-Marie-Tooth disease, type 1D [MeSH Supplementary Concept]

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