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Congenital dyserythropoietic anemia type IV
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Coffin-Siris syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Atypical teratoid tumor
Neurofibromatosis type 3
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
Ewing sarcoma
Extraskeletal Ewing sarcoma
Isolated delta-storage pool disease
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- CDA IV
- CDA due to KLF1 mutation
- CDA type 4
- CDA type IV
- CDAN4
- Congenital dyserythropoietic anemia due to KLF1 mutation
- Congenital dyserythropoietic anemia type 4

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: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
KLF1 Q13351600599
No signs/symptoms info available.