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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Severe combined immunodeficiency due to LCK deficiency
Familial thoracic aortic aneurysm and aortic dissection

LCK ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LCK
(0.56)
SMAD3



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Severe combined immunodeficiency due to LCK deficiency
Familial thoracic aortic aneurysm and aortic dissection

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

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 OMIM references -
No MeSH references

No signs/symptoms info available.