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

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

Symbol : CMT2D;

CISMeF acronym : CMT2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, neuronal, type 2d; Charcot-marie-tooth neuropathy, type 2d;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glycyl tRNA synthetase gene (GARS, 600287.0001);

Prefixed ID : #601472;

Details

Origin ID

601472;

UMLS CUI

C1832274;

Automatic exact mappings (from CISMeF team)
- AIFM1 wt Allele [NCIt concept]
- GARS1 wt Allele [NCIt concept]
- symbol withdrawn CMT2D [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2D [NCIt concept]
- Charcot-Marie-Tooth disease type 2D [DO Concept]
- Charcot-Marie-Tooth disease type 2D [ICD-11 More detail]
- Charcot-Marie-Tooth disease, Type 2D [MeSH concept]
- Charcot-Marie-Tooth disease, type 2D [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2D [DO Concept]
Genes related to phenotype
- Glycyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cold-induced hand cramps [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]
- First dorsal interossei muscle atrophy [HPO term]
- First dorsal interossei muscle weakness [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Onset [HPO term]
- Pes cavus [HPO term]
- Postural instability [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Thenar muscle atrophy [HPO term]
- Thenar muscle weakness [HPO term]
- Upper limb amyotrophy [HPO term]
- Upper limb muscle weakness [HPO term]
- Upper limb weakness and atrophy predominates [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2D [NCIt concept]
- Charcot-Marie-Tooth disease, Type 2D [MeSH concept]
- Charcot-Marie-Tooth disease, type 2D [MeSH Supplementary Concept]

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