Neuronopathy, distal hereditary motor, autosomal recessive 5

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

Symbol : HMNR5;

CISMeF acronym : DSMA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DSMA5; Spinal muscular atrophy, distal, autosomal recessive, 5; Neuropathy, distal hereditary motor, autosomal recessive 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily B, member 2 gene (DNAJB2, 604139.0001);

Prefixed ID : #614881;

Details

Origin ID

614881;

UMLS CUI

C4749918;

Automatic exact mappings (from CISMeF team)
- Young adult-onset distal hereditary motor neuropathy [ORDO Disease]
- distal spinal muscular atrophy type 5 [DO Concept]
DO Cross reference
- distal spinal muscular atrophy type 5 [DO Concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily b, member 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Dysphonia [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- DNAJB2-related Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Young adult-onset distal hereditary motor neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Young adult-onset distal hereditary motor neuropathy (disorder) [SNOMED CT concept]

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