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Thrombocytopenia with congenital dyserythropoietic anemia
1 OMIM reference -
1 associated gene
36 connected diseases
No signs/symptoms info
Disease Type of connection
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Coffin-Siris syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Precursor T-cell acute lymphoblastic leukemia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Congenital diaphragmatic hernia
Tetralogy of Fallot
Acute promyelocytic leukemia
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
2q37 microdeletion syndrome
Atypical teratoid tumor
Neurofibromatosis type 3
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Recurrent infection due to specific granule deficiency
17p11.2 microduplication syndrome
1p36 deletion syndrome
Pancytopenia due to IKZF1 mutations
Precursor B-cell acute lymphoblastic leukemia
Shprintzen-Goldberg syndrome
Smith-Magenis syndrome
Primary biliary cirrhosis
Autosomal dominant hyper-IgE syndrome
Cowden syndrome
Proteus syndrome
Distal 22q11.2 microdeletion syndrome
- Congenital dyserythropoietic anemia with thombocytopenia
- X-linked congenital dyserythropoietic anemia with thrombocytopenia

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
GATA1 P15976305371
No signs/symptoms info available.