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Hemimegalencephaly
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
Hemimegalencephaly
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

AKT3
(UniProt - OMIM)
 STAT1
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.52)
STAT1


Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Hemimegalencephaly
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- Unilateral megalencephaly
Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.