Charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive

Preferred Label : Charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cmt2 with vocal cord paresis, autosomal recessive; Charcot-marie-tooth disease, type 4a, axonal form; Charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive;

Inheritance : Autosomal recessive;

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

Prefixed ID : #607706;

Détails

Origin ID

607706;

UMLS CUI

C1843183;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2G [ICD-11 More detail]
- Charcot-Marie-Tooth disease, Type 2G [MeSH concept]
Genes related to phenotype
- Ganglioside-induced differentiation-associated protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration/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 sensation loss [HPO term]
- Distal sensory impairment [HPO term]
- Flexion contracture [HPO term]
- Neonatal onset [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Onion bulb formation [HPO term]
- Pes cavus [HPO term]
- Spinal deformities [HPO term]
- Split hand [HPO term]
- Vocal cord paresis [HPO term]
ORDO concept(s)
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Charcot-Marie-Tooth disease, Type 4A, axonal form [MeSH concept]
- Charcot-Marie-Tooth disease, type 4A, axonal form [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease, Type 4A, axonal form [MeSH concept]
- Charcot-Marie-Tooth disease, type 4A, axonal form [MeSH Supplementary Concept]

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