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Telangiectasia macularis eruptiva perstans
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to LCK deficiency
1 associated gene
No signs/symptoms info
Telangiectasia macularis eruptiva perstans
Severe combined immunodeficiency due to LCK deficiency

KIT
(UniProt - OMIM)
 LCK
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIT
(0.88)
LCK


Citations in the biomedical literature:


Telangiectasia macularis eruptiva perstans
KIT
Severe combined immunodeficiency due to LCK deficiency
LCK



Telangiectasia macularis eruptiva perstans
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 allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin 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.