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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
3 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Pseudoxanthomatous diffuse cutaneous mastocytosis

LCK KIT


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Pseudoxanthomatous diffuse cutaneous mastocytosis
KIT



Severe combined immunodeficiency due to LCK deficiency
Pseudoxanthomatous diffuse cutaneous mastocytosis

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):
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Pseudoxanthomatous DCM

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Pseudoxanthomatous diffuse cutaneous mastocytosis

Very frequent
- Dermal / subcutaneous infiltration / induration
- Mastocytosis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Severe combined immunodeficiency due to LCK deficiency

(no data available)