Neuronopathy, distal hereditary motor, autosomal dominant 12

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 12;

Symbol : HMND12;

CISMeF acronym : DHMN5B; DSMAVB; HMN5B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DHMN5B; Neuropathy, distal hereditary motor, harding type vb; Neuronopathy, distal hereditary motor, harding type vb; Dhmn vb; Hmn vb; DSMAVB; HMN5B; Spinal muscular atrophy, distal, harding type vb;

Description : Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; 182960).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the receptor expression-enhancing protein 1 gene (REEP1, 609139.0006);

Prefixed ID : #614751;

Details

Origin ID

614751;

UMLS CUI

C3553656;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
- autosomal dominant distal hereditary motor neuronopathy 12 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 17 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Spastic paraplegia 17 [MeSH concept]
- hereditary spastic paraplegia 17 [DO Concept]
- spastic paraplegia 17 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant distal hereditary motor neuronopathy 12 [DO Concept]
False automatic mappings
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
Genes related to phenotype
- Receptor expression-enhancing protein 1 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased patellar reflex [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Early young adult onset [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Peroneal muscle atrophy [HPO term]
- Peroneal muscle weakness [HPO term]
- Pes cavus [HPO term]
- Thenar muscle atrophy [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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