Congenital myopathy 7b, myosin storage, autosomal recessive

Preferred Label : Congenital myopathy 7b, myosin storage, autosomal recessive;

Symbol : CMYO7B;

CISMeF acronym : MSMB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, hyaline body, autosomal recessive; Myopathy, myosin storage, autosomal recessive; MSMB;

Description : Hyaline body myopathy is a rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type I muscle fibers. See also autosomal dominant hyaline body myopathy (608358).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin, heavy chain 7, cardiac muscle, beta gene (MYH7, 160760.0035);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #255160;

Détails

Origin ID

255160;

UMLS CUI

C1850709;

Automatic exact mappings (from CISMeF team)
- Beta-Microseminoprotein [NCIt concept]
- MSMB Gene [NCIt concept]
- autosomal recessive hyaline body myopathy [DO Concept]
- microseminoprotein beta [HGNC gene]
- microseminoprotein beta [ORDO Gene]
Broader ORDO disease(s)
- Myosin storage myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Hyaline body myopathy [ICD-11 More detail]
- Myosin storage myopathy [ORDO Disease]
- myopathy, hyaline body, autosomal recessive [MeSH concept]
- myopathy, hyaline body, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive hyaline body myopathy [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 7, cardiac muscle, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- High palate [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Myopathic facies [HPO term]
- Respiratory insufficiency [HPO term]
- Scapuloperoneal amyotrophy [HPO term]
- Scapuloperoneal weakness [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Type 1 muscle fiber predominance [HPO term]
ORDO concept(s)
- Myosin storage myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyaline body myopathy [ICD-11 More detail]
- Myosin storage myopathy [ORDO Disease]
- myopathy, hyaline body, autosomal recessive [MeSH Supplementary Concept]
- myopathy, hyaline body, autosomal recessive [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients