Neuronopathy, distal hereditary motor, autosomal recessive 2

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

Symbol : HMNR2;

CISMeF acronym : DSMA2; HMNJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, jerash type; Spinal muscular atrophy, jerash type; HMNJ; Neuronopathy, distal hereditary motor, jerash type; Neuropathy, distal hereditary motor, autosomal recessive 2; DSMA2; Spinal muscular atrophy, distal, autosomal recessive, 2;

Description : Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sigma nonopioid intracellular receptor 1 gene (SIGMAR1, 601978.0003);

Prefixed ID : #605726;

Details

Origin ID

605726;

UMLS CUI

C1854023;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy type 2 [ORDO Disease]
- SIGMAR1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Distal hereditary motor neuropathy Jerash type (disorder) [SNOMED CT concept]
- Distal hereditary motor neuropathy, Jerash type [ICD-11 More detail]
- Distal hereditary motor neuropathy, Jerash type [ORDO Disease]
- Spinal muscular atrophy, Jerash type [MeSH concept]
- distal spinal muscular atrophy 2 [DO Concept]
- spinal muscular atrophy, jerash type [MeSH Supplementary Concept]
DO Cross reference
- distal spinal muscular atrophy 2 [DO Concept]
Genes related to phenotype
- Sigma nonopioid intracellular receptor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Spinal muscular atrophy [HPO term]
- Split hand [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- Distal hereditary motor neuropathy, Jerash type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal hereditary motor neuropathy Jerash type (disorder) [SNOMED CT concept]
- Distal hereditary motor neuropathy, Jerash type [ORDO Disease]
- Spinal muscular atrophy, Jerash type [MeSH concept]
- distal spinal muscular atrophy 2 [DO Concept]
- spinal muscular atrophy, jerash type [MeSH Supplementary Concept]

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