Neuronopathy, distal hereditary motor, autosomal dominant 3

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 3;

Symbol : HMND3;

CISMeF acronym : DHMN2B; HMN2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, harding type iib; Hmn iib; DHMN2B; Neuronopathy, distal hereditary motor, harding type iib; HMN2B;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heat-shock 27-kD protein 1 gene (HSPB1, 602195.0001);

Prefixed ID : #608634;

Détails

Origin ID

608634;

UMLS CUI

C2608087;

Automatic exact mappings (from CISMeF team)
- HSPB1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- distal hereditary motor neuropathy type 2B [DO Concept]
- neuronopathy, distal hereditary motor, type IIB [MeSH concept]
- neuronopathy, distal hereditary motor, type IIB [MeSH Supplementary Concept]
DO Cross reference
- distal hereditary motor neuropathy type 2B [DO Concept]
Genes related to phenotype
- Heat-shock 27-kd protein 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Difficulty walking [HPO term]
- Distal lower limb muscle weakness [HPO term]
- EMG: neuropathic changes [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy [HPO term]
- Paralysis [HPO term]
- Paresis of extensor muscles of the big toe [HPO term]
- Peripheral neuropathy [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neuronopathy, distal hereditary motor, type IIB [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type IIB [MeSH concept]
Validated automatic mappings to NTBT
- Distal hereditary motor neuropathy type 2 [ORDO Disease]

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