Charcot-marie-tooth disease, axonal, type 2gg

Preferred Label : Charcot-marie-tooth disease, axonal, type 2gg;

Symbol : CMT2GG;

CISMeF acronym : CMTDIA; DI-CMTA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2gg;

Description : This form of dominant intermediate Charcot-Marie-Tooth disease (CMTDIA) has been linked to chromosome 10q24.1-q25.1. For a phenotypic description and a discussion of genetic heterogeneity of dominant intermediate CMT neuropathy, see CMTDIB (606482).;

Inheritance : Autosomal dominant;

Prefixed ID : #606483;

Details

Origin ID

606483;

UMLS CUI

C5561933;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease [ORDO Disease]
- Charcot-Marie-Tooth disease intermediate type [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate A [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate A [MeSH concept]
- Charcot-Marie-Tooth disease, dominant intermediate A [MeSH Supplementary Concept]
- Dominant intermediate Charcot-Marie-Tooth disease type A [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate A [DO Concept]
Genes related to phenotype
- Golgi-specific brefeldin-a resistance factor 1 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [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]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Muscle spasm [HPO term]
- Onion bulb formation [HPO term]
- Onset [HPO term]
- Pes cavus [HPO term]
- Segmental peripheral demyelination [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Charcot-Marie-Tooth disease dominant intermediate A [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate A [MeSH concept]
Validated automatic mappings to NTBT
- Dominant intermediate Charcot-Marie-Tooth disease [ICD-11 More detail]

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