Neuronopathy, distal hereditary motor, X-linked

Preferred Label : Neuronopathy, distal hereditary motor, X-linked;

Symbol : HMNX;

CISMeF acronym : DSMAX; SMAX3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, distal, X-linked recessive; DSMAX; SMAX3; Spinal muscular atrophy, distal, X-linked 3; Neuropathy, distal hereditary motor, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, Cu(2 )-transporting, alpha polypeptide (ATP7A, 300011.0015);

Prefixed ID : #300489;

Détails

Origin ID

300489;

UMLS CUI

C1845359;

Automatic exact mappings (from CISMeF team)
- ATP7A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- X-linked distal spinal muscular atrophy 3 [DO Concept]
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH concept]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH Supplementary Concept]
DO Cross reference
- X-linked distal spinal muscular atrophy 3 [DO Concept]
Genes related to phenotype
- Atpase, cu(2+)-transporting, alpha polypeptide [OMIM gene]
HPO term(s)
- Abnormal peripheral nervous system morphology [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- EMG: neuropathic changes [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
- Unsteady gait [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked distal spinal muscular atrophy 3 [DO Concept]
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
- X-linked distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH concept]
Validated automatic mappings to BTNT
- X-linked distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]

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