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Combined immunodeficiency due to ZAP70 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
1 associated gene
4 signs/symptoms
Combined immunodeficiency due to ZAP70 deficiency
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

ZAP70
(UniProt - OMIM)
 KIT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ZAP70
(0.72)
KIT


Citations in the biomedical literature:


Combined immunodeficiency due to ZAP70 deficiency
ZAP70
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
KIT



Combined immunodeficiency due to ZAP70 deficiency
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Synonym(s):
- Zeta-associated-protein 70 deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
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: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
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



Combined immunodeficiency due to ZAP70 deficiency

(no data available)