Neuronopathy, distal hereditary motor, autosomal dominant 5

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 5;

Symbol : HMND5;

CISMeF acronym : DHMN5A; DSMAVA; DSMAV; HMN5A; HMN5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DHMN5A; DSMAV; Spinal muscular atrophy, distal, with upper limb predominance; Dhmn va; Spinal muscular atrophy, distal, harding type V; Neuronopathy, distal hereditary motor, harding type va; Neuropathy, distal hereditary motor, harding type va; Neuronopathy, distal hereditary motor, harding type V; Hmn 5a; HMN5; DSMAVA; HMN5A; Spinal muscular atrophy, distal, harding type va;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glycyl tRNA synthetase gene (GARS, 600287.0002); Caused by mutation in the seipin gene (BSCL2, 606158.0013);

Prefixed ID : #600794;

Details

Origin ID

600794;

UMLS CUI

C1833308;

Automatic exact mappings (from CISMeF team)
- GARS1 wt Allele [NCIt concept]
- distal hereditary motor neuronopathy type 5 [DO Concept]
- distal hereditary motor neuronopathy type 5A [DO Concept]
- glycyl-tRNA synthetase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
- Distal hereditary motor neuropathy type 5 (disorder) [SNOMED CT concept]
- neuronopathy, distal hereditary motor, type V [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type V [MeSH concept]
DO Cross reference
- distal hereditary motor neuronopathy type 5A [DO Concept]
Genes related to phenotype
- Glycyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cold-induced hand cramps [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]
- First dorsal interossei muscle atrophy [HPO term]
- First dorsal interossei muscle weakness [HPO term]
- Hammertoe [HPO term]
- Hyperreflexia [HPO term]
- Onset [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Slowly progressive [HPO term]
- Thenar muscle atrophy [HPO term]
- Thenar muscle weakness [HPO term]
- Upper limb amyotrophy [HPO term]
- Upper limb muscle weakness [HPO term]
- Upper limb weakness and atrophy predominates [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
- Distal hereditary motor neuropathy type 5 (disorder) [SNOMED CT concept]
- distal hereditary motor neuronopathy type 5A [DO Concept]
- neuronopathy, distal hereditary motor, type V [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type V [MeSH concept]

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