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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
No signs/symptoms info
Isolated focal cortical dysplasia type IIb
Hemoglobin H disease

TSC1 HBA1
HBA2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
TSC1
(0.63)
(0.63)
HBA1
HBA2



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Hemoglobin H disease
HBA1 HBA2



Isolated focal cortical dysplasia type IIb
Hemoglobin H disease

Synonym(s):
- FCD type IIb

Synonym(s):
- Alpha-thalassemia intermedia
- HbH disease

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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 recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.