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Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to LCK deficiency
1 associated gene
No signs/symptoms info
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe combined immunodeficiency due to LCK deficiency

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

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


Citations in the biomedical literature:


Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
PIK3CA
Severe combined immunodeficiency due to LCK deficiency
LCK



Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe combined immunodeficiency due to LCK deficiency

Synonym(s):
(no synonyms)

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
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
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.