Myopathy, scapulohumeroperoneal

Preferred Label : Myopathy, scapulohumeroperoneal;

Symbol : SHPM;

CISMeF acronym : SHPM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin, alpha, skeletal muscle 1 gene (ACTA1, 102610.0018);

Prefixed ID : #616852;

Details

Origin ID

616852;

UMLS CUI

C4225181;

Currated CISMeF NLP mapping
- Progressive scapulohumeroperoneal distal myopathy [ORDO Disease]
- Progressive scapulohumeroperoneal distal myopathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Actin, alpha-1, skeletal muscle [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Facial palsy [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hand muscle atrophy [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Increased connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Neck flexor weakness [HPO term]
- Nemaline bodies [HPO term]
- Progressive muscle weakness [HPO term]
- Reduced tendon reflexes [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Wrist drop [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Progressive scapulohumeroperoneal distal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive scapulohumeroperoneal distal myopathy (disorder) [SNOMED CT concept]

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