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Monocytopenia with susceptibility to infections
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Acute myeloid leukemia
Deafness - lymphedema - leukemia
Myelodysplastic syndromes
Acute promyelocytic leukemia
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Autosomal agammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant hyper-IgE syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Cowden syndrome
Distal 22q11.2 microdeletion syndrome
Inherited acute myeloid leukemia
Proteus syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Dentritic cell, monocyte, B and NK lymphoid deficiency
- MonoMAC
- Monocyte - B - natural killer - dendritic cell deficiency
- Monocytopenia and mycobacterial infection syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GATA2 P23769137295
No signs/symptoms info available.