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

ACTA1 FBXO7
ITGA7 SNCA
MYL2
PTPLA
SEPN1
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.56)
SNCA



Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Parkinsonian-pyramidal syndrome
FBXO7 SNCA



Congenital fiber-type disproportion myopathy
Parkinsonian-pyramidal syndrome

Synonym(s):
- CFTDM

Synonym(s):
- Pallidopyramidal syndrome

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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
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



Parkinsonian-pyramidal syndrome

(no data available)