ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1
PROTEIN INTERACTIONS: 2

2 OMIM references -
7 associated genes
8 signs/symptoms

Congenital myopathy with excess of thin filaments

Congenital fiber-type disproportion myopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTA1 ACTA1	(0.65) (0.56)	TPM3 TPM2

Citations in the biomedical literature:

Congenital myopathy with excess of thin filaments		Congenital fiber-type disproportion myopathy
	Synonym(s): - Actin myopathy		Synonym(s): - CFTDM

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Congenital fiber-type disproportion myopathy
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Areflexia / hyporeflexia - Autosomal recessive inheritance - Hypotonia - Myopathy Frequent - Pectus excavatum - Repeat respiratory infections - Scoliosis
Congenital myopathy with excess of thin filaments
(no data available)