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Severe combined immunodeficiency due to LCK deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3 OMIM references -
2 associated genes
No signs/symptoms info
Severe combined immunodeficiency due to LCK deficiency
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

LCK
(UniProt - OMIM)
 MUC1
(UniProt - OMIM)
UMOD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LCK
(0.55)
MUC1


Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD



Severe combined immunodeficiency due to LCK deficiency
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

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):
- Autosomal dominant nephronophthisis
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.