Congenital myopathy 5 with cardiomyopathy

Preferred Label : Congenital myopathy 5 with cardiomyopathy;

Symbol : CMYP5;

CISMeF acronym : EOMFC; SALMY;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EOMFC; Myopathy, early-onset, with fatal cardiomyopathy; Salih myopathy; SALMY;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0012);

Laboratory abnormalities : Serum creatine kinase may be increased;

Prefixed ID : #611705;

Details

Origin ID

611705;

UMLS CUI

C2673677;

Automatic exact mappings (from CISMeF team)
- TTN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Early onset myopathy with fatal cardiomyopathy (disorder) [SNOMED CT concept]
- Early-onset myopathy with fatal cardiomyopathy [ORDO Disease]
- myopathy, Early-Onset, with fatal cardiomyopathy [MeSH concept]
- myopathy, Early-Onset, with fatal cardiomyopathy [MeSH Supplementary Concept]
Genes related to phenotype
- Titin [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital onset [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Generalized muscle weakness [HPO term]
- Infantile onset [HPO term]
- Mitochondrial depletion [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Sudden death [HPO term]
ORDO concept(s)
- Early-onset myopathy with fatal cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early onset myopathy with fatal cardiomyopathy (disorder) [SNOMED CT concept]
- Early-onset myopathy with fatal cardiomyopathy [ORDO Disease]
- myopathy, Early-Onset, with fatal cardiomyopathy [MeSH Supplementary Concept]
- myopathy, Early-Onset, with fatal cardiomyopathy [MeSH concept]

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