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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
PLCG2-associated antibody deficiency and immune dysregulation

KIT PLCG2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.72)
PLCG2



Citations in the biomedical literature:


Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
KIT
PLCG2-associated antibody deficiency and immune dysregulation
PLCG2



Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
PLCG2-associated antibody deficiency and immune dysregulation

Synonym(s):
(no synonyms)

Synonym(s):
- FACU
- Familial atypical cold urticaria
- Familial cold urticaria with common variable immunodeficiency
- PLAID

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Very frequent
- Acute leukemia
- Eosinophils anomalies / hypereosinophilia
- Mastocytosis
- Myeloproliferative syndrome / chronic leukemia



PLCG2-associated antibody deficiency and immune dysregulation

(no data available)