Neuronopathy, distal hereditary motor, autosomal recessive 4

Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 4;

Symbol : HMNR4;

CISMeF acronym : DSMA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DSMA4; Neuropathy, distal hereditary motor, autosomal recessive 4; Spinal muscular atrophy, distal, autosomal recessive, 4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pleckstrin homology domain-containing protein, family G, member 5 gene (PLEKHG5, 611101.0001);

Prefixed ID : #611067;

Détails

Origin ID

611067;

UMLS CUI

C1970211;

Automatic exact mappings (from CISMeF team)
- PLEKHG5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive lower motor neuron disease with childhood onset [ICD-11 More detail]
- Autosomal recessive lower motor neuron disease with childhood onset [ORDO Disease]
- Autosomal recessive lower motor neuron disease with childhood onset (disorder) [SNOMED CT concept]
- distal spinal muscular atrophy type 4 [DO Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH Supplementary Concept]
DO Cross reference
- distal spinal muscular atrophy type 4 [DO Concept]
Genes related to phenotype
- Pleckstrin homology domain- and rhogef domain-containing protein g5 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty walking [HPO term]
- Difficulty walking and climbing stairs [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal muscle weakness and atrophy [HPO term]
- EMG: neuropathic changes [HPO term]
- Emg shows neurogenic changes and denervation [HPO term]
- Hyperlordosis [HPO term]
- Joint contracture of the hand [HPO term]
- Muscle weakness and atrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Rapidly progressive [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scapuloperoneal amyotrophy [HPO term]
- Scoliosis [HPO term]
- Spinal muscular atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- Autosomal recessive lower motor neuron disease with childhood onset [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive lower motor neuron disease with childhood onset [ORDO Disease]
- Autosomal recessive lower motor neuron disease with childhood onset (disorder) [SNOMED CT concept]
- distal spinal muscular atrophy type 4 [DO Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH concept]

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