Congenital myopathy 4a, autosomal dominant

Preferred Label : Congenital myopathy 4a, autosomal dominant;

Symbol : CMYO4A;

CISMeF acronym : CFTD; CFTDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CFTDM; Fiber-type disproportion myopathy, congenital; CAPM1; NEM1; Nemaline myopathy 1; Cap myopathy 1; CFTD; Myopathy, congenital, with fiber-type disproportion;

Description : Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the skeletal muscle alpha-1 actin gene (ACTA1, 102610.0011); Caused by mutation in the selenoprotein N, 1 gene (SEPN1, 606210.0008); Caused by mutation in the tropomyosin 3 gene (TPM3, 191030.0005);

Prefixed ID : #255310;

Details

Origin ID

255310;

UMLS CUI

C0546264;

Currated CISMeF NLP mapping
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber type disproportion myopathy [PASCAL descriptor]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion [MeSH concept]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber type disproportion myopathy [SNOMED Notion]
- congenital fiber-type disproportion [DO Concept]
DO Cross reference
- congenital fiber-type disproportion [DO Concept]
Genes related to phenotype
- Tropomyosin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Generalized muscle weakness [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Isolated cases [HPO term]
- Limb joint contracture [HPO term]
- Long face [HPO term]
- Long, thin face [HPO term]
- Lumbar hyperlordosis [HPO term]
- Narrow face [HPO term]
- Neonatal hypotonia [HPO term]
- Ophthalmoplegia [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Type 1 fibers relatively smaller than type 2 fibers [HPO term]
- Variable expressivity [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Congenital fiber-type disproportion myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion [MeSH concept]
- congenital fiber type disproportion myopathy [SNOMED Notion]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]

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