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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
7 associated genes
8 signs/symptoms
Fibrosarcoma
Congenital fiber-type disproportion myopathy

ETV6 ACTA1
NTRK3 ITGA7
MYL2
PTPLA
SEPN1
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ETV6
(0.55)
ACTA1



Citations in the biomedical literature:


Fibrosarcoma
ETV6 NTRK3
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Fibrosarcoma
Congenital fiber-type disproportion myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- CFTDM

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

Classification (ICD10):
(no data available)
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 -
1 MeSH reference: D005354
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



Fibrosarcoma

(no data available)