Cytoscape Web
Click node...

Hemimegalencephaly
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to LCK deficiency
1 associated gene
No signs/symptoms info
Hemimegalencephaly
Severe combined immunodeficiency due to LCK deficiency

AKT3
(UniProt - OMIM)
 LCK
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.89)
LCK


Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Severe combined immunodeficiency due to LCK deficiency
LCK



Hemimegalencephaly
Severe combined immunodeficiency due to LCK deficiency

Synonym(s):
- Unilateral megalencephaly
Synonym(s):
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.