01
Diseases
Myopathy, Congenital, With Fiber-Type Disproportion
myopathy, congenital, with fiber-type disproportion
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Myopathy, Congenital, With Fiber-Type Disproportion
- Standard Disease Name
- myopathy, congenital, with fiber-type disproportion
- MeSH Tree
- No data
- ICD-10
- G71.2
Identifiers
- DO ID
- No data
- MeSH ID
- D020914
- OMIM ID
- 255310|255310|300580
- UMLS ID
- C0546264
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.
Related
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Related Targets
target disease8 Targets