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

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

Symbol : CMT2K;

CISMeF acronym : CMT2K;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, axonal, autosomal recessive, type 2k; Charcot-marie-tooth neuropathy, axonal, type 2k;

Included titles and symbols : Charcot-marie-tooth disease, autosomal dominant, type 2k;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, 606598.0002);

Prefixed ID : #607831;

Détails

Origin ID

607831;

UMLS CUI

C1842983;

Currated CISMeF NLP mapping
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ICD-11 More detail]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2K [NCIt concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
Genes related to phenotype
- Ganglioside-induced differentiation-associated protein 1 [OMIM gene]
- Junctophilin 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal regeneration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [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]
- Heterogeneous [HPO term]
- Infantile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Proximal muscle involvement may occur [HPO term]
- Proximal muscle weakness [HPO term]
- Split hand [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2K [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2K [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2K [NCIt concept]
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
- Charcot-Marie-Tooth disease, autosomal dominant, type 2k [MeSH concept]
- Charcot-Marie-Tooth disease, autosomal dominant, type 2k [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]
- ganglioside induced differentiation associated protein 1 [ORDO Gene]
- ganglioside induced differentiation associated protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2K [NCIt concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]

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