Congenital myopathy 7a, myosin storage, autosomal dominant

Preferred Label : Congenital myopathy 7a, myosin storage, autosomal dominant;

Symbol : CMYO7A;

CISMeF acronym : MSMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, hyaline body, autosomal dominant; Myopathy with lysis of type I myofibrils; SPMD; Scapuloperoneal muscular dystrophy; Scapuloperoneal syndrome, myopathic type; Myopathy, myosin storage, autosomal dominant; MSMA; SPMM; Scapuloperoneal myopathy, myh7-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta cardiac myosin heavy chain gene (MYH7, 160760.0028);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #608358;

Détails

Origin ID

608358;

UMLS CUI

C4759774;

Automatic exact mappings (from CISMeF team)
- autosomal dominant hyaline body myopathy [DO Concept]
- monomethylarsonic acid [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Myosin storage myopathy [ORDO Disease]
- Myosin storage myopathy (disorder) [SNOMED CT concept]
- myopathy, myosin storage [MeSH concept]
- myopathy, myosin storage [MeSH Supplementary Concept]
- myosin storage myopathy [Disease (Nov.)]
DO Cross reference
- autosomal dominant hyaline body myopathy [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 7, cardiac muscle, beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Difficulty walking [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Falls [HPO term]
- Generalized limb muscle atrophy [HPO term]
- Generalized muscle atrophy, proximal and distal [HPO term]
- Generalized muscle weakness [HPO term]
- Generalized muscle weakness, proximal and distal [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Neck flexor weakness [HPO term]
- Onset in childhood or early adulthood [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Reduced vital capacity [HPO term]
- Scapular winging [HPO term]
- Scapuloperoneal amyotrophy [HPO term]
- Scapuloperoneal weakness [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Myosin storage myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myosin storage myopathy (disorder) [SNOMED CT concept]
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- myopathy, myosin storage [MeSH Supplementary Concept]
- myopathy, myosin storage [MeSH concept]
- myosin storage myopathy [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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