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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
6 signs/symptoms
Isolated focal cortical dysplasia type IIb
Moyamoya disease

TSC1 ACTA2
RNF213


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.63)
ACTA2



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Moyamoya disease
ACTA2 RNF213



Isolated focal cortical dysplasia type IIb
Moyamoya disease

Synonym(s):
- FCD type IIb

Synonym(s):
(no synonyms)

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 circulatory system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
2 MeSH references: C536991 / D009072

Moyamoya disease

Very frequent
- Autosomal recessive inheritance
- Vascular anomalies of skin / mucosae

Frequent
- Cerebral vascular anomalies
- Dilated cerebral ventricles without hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus



Isolated focal cortical dysplasia type IIb

(no data available)