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PLCG2-associated antibody deficiency and immune dysregulation
1 OMIM reference -
1 associated gene
51 connected diseases
No signs/symptoms info
Disease Type of connection
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal agammaglobulinemia
Acute myeloblastic leukemia with maturation
Primary familial polycythemia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Williams syndrome
MODY syndrome
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
Complete androgen insensitivity syndrome
Cutaneous mastocytoma
Familial hypospadias
Familial papillary renal cell carcinoma
Gastrointestinal stromal tumor
Hepatocellular carcinoma, childhood-onset
Isolated bone marrow mastocytosis
Juvenile myelomonocytic leukemia
Kennedy disease
LEOPARD syndrome
Lymphoadenopathic mastocytosis with eosinophilia
Metachondromatosis
Nodular urticaria pigmentosa
Noonan syndrome
Partial androgen insensitivity syndrome
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
Giant cell glioblastoma
Gliosarcoma
SHORT syndrome
Severe combined immunodeficiency due to LCK deficiency
Common variable immunodeficiency
Cherubism
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Autosomal recessive lymphoproliferative disease
Budd-Chiari syndrome
Essential thrombocythemia
Familial capillary hemangioma
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Synonym(s):
- FACU
- Familial atypical cold urticaria
- Familial cold urticaria with common variable immunodeficiency
- PLAID
Classification (Orphanet):
- Rare allergic disease
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PLCG2 P16885600220
No signs/symptoms info available.