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Combined immunodeficiency due to ZAP70 deficiency
1 OMIM reference -
1 associated gene
56 connected diseases
No signs/symptoms info
Disease Type of connection
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Autosomal agammaglobulinemia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Severe combined immunodeficiency due to LCK deficiency
Cherubism
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Giant cell arteritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial papillary renal cell carcinoma
Gastrointestinal stromal tumor
Hepatocellular carcinoma, childhood-onset
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Lissencephaly due to TUBA1A mutation
Nasu-Hakola disease
Giant cell glioblastoma
Gliosarcoma
Lethal congenital contracture syndrome type 2
SHORT syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary gingival fibromatosis
Noonan syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Persistent polyclonal B-cell lymphocytosis
Severe combined immunodeficiency due to CARD11 deficiency
Wiskott-Aldrich syndrome
Synonym(s):
- Zeta-associated-protein 70 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ZAP70 P43403176947
No signs/symptoms info available.