Cytoscape Web
Click node...


Deafness - lymphedema - leukemia
1 OMIM reference -
1 associated gene
25 connected diseases
29 signs/symptoms
Disease Type of connection
Acute myeloid leukemia
Monocytopenia with susceptibility to infections
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):
- Emberger syndrome

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
GATA2 P23769137295
Very frequent
- Acute leukemia
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Bone marrow failure / pancytopenia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lymphedema
- Polynuclear cells / neutrophils anomalies / neutropenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thrombocytopenia / thrombopenia

Frequent
- Blood hyperviscosity / hypercoagulability
- Bruisability
- Chronic / relapsing otitis
- Dizziness
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intracranial / cerebral / meningeal hemorrhage
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pallor
- Repeat respiratory infections
- Splenomegaly
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Hyperleukocytosis / leukocytosis
- Lymphadenopathy / polyadenopathies
- Myeloproliferative syndrome / chronic leukemia