Neuronopathy, distal hereditary motor, autosomal dominant 2

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 2;

Symbol : HMND2;

CISMeF acronym : DHMN2A; HMN2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMN2A; Hmn iia; Neuronopathy, distal hereditary motor, harding type iia; DHMN2A; Charcot-marie-tooth disease, spinal, iia; Spinal muscular atrophy, distal, adult, autosomal dominant, harding type iia; Neuropathy, distal hereditary motor, harding type iia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heat-shock 22-kD protein 8 gene (HSPB8, 608014.0001);

Prefixed ID : #158590;

Details

Origin ID

158590;

UMLS CUI

C1834692;

Automatic exact mappings (from CISMeF team)
- HSPB8 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- distal hereditary motor neuronopathy type 2A [DO Concept]
- neuropathy, distal hereditary motor, type IIA [MeSH concept]
- neuropathy, distal hereditary motor, type IIA [MeSH Supplementary Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 2A [DO Concept]
Genes related to phenotype
- Heat-shock 22-kd protein 8 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal 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]
ORDO concept(s)
- Distal hereditary motor neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neuropathy, distal hereditary motor, type IIA [MeSH Supplementary Concept]
- neuropathy, distal hereditary motor, type IIA [MeSH concept]
Validated automatic mappings to NTBT
- Distal hereditary motor neuropathy type 2 [ORDO Disease]

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