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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
7 associated genes
8 signs/symptoms
Isolated focal cortical dysplasia type IIb
Congenital fiber-type disproportion myopathy

TSC1 ACTA1
ITGA7
MYL2
PTPLA
SEPN1
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.55)
ACTA1



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Isolated focal cortical dysplasia type IIb
Congenital fiber-type disproportion myopathy

Synonym(s):
- FCD type IIb

Synonym(s):
- CFTDM

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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



Isolated focal cortical dysplasia type IIb

(no data available)