Scapuloperoneal spinal muscular atrophy

Preferred Label : Scapuloperoneal spinal muscular atrophy;

Symbol : SPSMA;

CISMeF acronym : SPSMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophy, neurogenic scapuloperoneal, new england type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008);

Prefixed ID : #181405;

Details

Origin ID

181405;

UMLS CUI

C0751335;

Automatic exact mappings (from CISMeF team)
- Scapuloperoneal form of spinal muscular atrophy [ICD-11 More detail]
- TRPV4 wt Allele [NCIt concept]
- muscular atrophy, spinal [MeSH Descriptor]
Currated CISMeF NLP mapping
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy (disorder) [SNOMED CT concept]
- scapuloperoneal form of spinal muscular atrophy [MeSH concept]
- scapuloperoneal spinal muscular atrophy [Disease (Nov.)]
- scapuloperoneal spinal muscular atrophy [DO Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH Supplementary Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH concept]
DO Cross reference
- scapuloperoneal spinal muscular atrophy [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Abducens palsy [HPO term]
- Abducens palsy [HPO term]
- Amyoplasia [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly [HPO term]
- Diaphragmatic weakness [HPO term]
- Distal sensory impairment [HPO term]
- Facial palsy [HPO term]
- Gowers sign [HPO term]
- Hip dysplasia [HPO term]
- Hoarse voice [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Incomplete penetrance [HPO term]
- Kyphosis [HPO term]
- Metatarsus adductus [HPO term]
- Motor delay [HPO term]
- Motor polyneuropathy [HPO term]
- Muscle fiber splitting [HPO term]
- Neurogenic scapuloperoneal amyotrophy [HPO term]
- Peroneal muscle atrophy [HPO term]
- Peroneal muscle weakness [HPO term]
- Progressive distal muscle weakness [HPO term]
- Progressive distal muscle weakness and atrophy [HPO term]
- Progressive distal muscular atrophy [HPO term]
- Progressive scapuloperoneal atrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Scapular muscle atrophy [HPO term]
- Scapular winging [HPO term]
- Scapuloperoneal amyotrophy [HPO term]
- Scoliosis [HPO term]
- Small hand [HPO term]
- Stridor [HPO term]
- Talipes equinovarus [HPO term]
- Torticollis [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy (disorder) [SNOMED CT concept]
- scapuloperoneal form of spinal muscular atrophy [MeSH concept]
- scapuloperoneal spinal muscular atrophy [Disease (Nov.)]
- scapuloperoneal spinal muscular atrophy [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients