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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital fiber-type disproportion myopathy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

ACTA1
(UniProt - OMIM)
 EP300
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.63)
EP300


Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Congenital fiber-type disproportion myopathy
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- CFTDM
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
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



Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

(no data available)