Details of Disease | DrugMAP

General Information of Disease (ID: DISGQXDE)

Disease Name	Congenital dyserythropoietic anemia type 4
Synonyms	CDA, type 4; anemia, congenital dyserythropoietic, type 4; anemia, congenital dyserythropoietic, type IV; CDAN4; CDA type IV; congenital dyserythropoietic anemia due to KLF1 mutation; congenital dyserythropoietic anaemia due to KLF1 mutation; CDA IV; CDA due to KLF1 mutation; congenital dyserythropoietic anemia type 4; dyserythropoietic anemia, congenital, type IV; CDA type 4
Definition	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
Disease Hierarchy	DIS6FAT6: Congenital dyserythropoietic anemia DISTW0J6: Congenital anemia DISGQXDE: Congenital dyserythropoietic anemia type 4
Disease Identifiers	MONDO ID MONDO_0013355 UMLS CUI C3150926 OMIM ID 613673 MedGen ID 462276 Orphanet ID 293825 SNOMED CT ID 719453009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLF1	OT1FK08U	Definitive	Autosomal dominant	[1]
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References

1	A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4.