Charcot-marie-tooth disease, recessive intermediate a

Preferred Label : Charcot-marie-tooth disease, recessive intermediate a;

Symbol : CMTRIA;

CISMeF acronym : CMTRIA; RI-CMTA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, recessive intermediate a; RI-CMTA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, 606598.0006);

Prefixed ID : #608340;

Details

Origin ID

608340;

UMLS CUI

C1842197;

Currated CISMeF NLP mapping
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease recessive intermediate A [DO Concept]
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH concept]
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH Supplementary Concept]
- Recessive intermediate Charcot-Marie-Tooth disease type A [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease recessive intermediate A [DO Concept]
False automatic mappings
- Autosomal recessive intermediate Charcot-Marie-Tooth disease [ORDO Disease]
Genes related to phenotype
- Ganglioside-induced differentiation-associated protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Demyelination [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- EMG: neuropathic changes [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Onion bulb formation [HPO term]
- Peripheral demyelination [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Steppage gait [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar claw [HPO term]
ORDO concept(s)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Charcot-Marie-Tooth disease recessive intermediate A [DO Concept]
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH concept]
Validated automatic mappings to NTBT
- Charcot-Marie-Tooth disease intermediate type [DO Concept]
- Recessive intermediate Charcot-Marie-Tooth disease [ICD-11 More detail]

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