Details of Disease | DrugMAP

General Information of Disease (ID: DISPCPCH)

Disease Name	Congenital dyserythropoietic anemia type 3
Synonyms	anemia, congenital dyserythropoietic, type III; CDA 3; Erythroreticulosis, hereditary benign; dyserythropoietic anemia, congenital type 3; dyserythropoietic Anemia, congenital, type 3; anaemia with multinucleated erythroblasts; anemia with multinucleated erythroblasts; CDAN3; CDA III; congenital dyserythropoietic anemia type 3; CDA type 3; CDA type III; dyserythropoietic anemia, congenital, type III
Definition	Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
Disease Hierarchy	DIS6FAT6: Congenital dyserythropoietic anemia DISTW0J6: Congenital anemia DISPCPCH: Congenital dyserythropoietic anemia type 3
Disease Identifiers	MONDO ID MONDO_0007109 UMLS CUI C5676874 OMIM ID 105600 MedGen ID 1801596 Orphanet ID 98870

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
KIF23	OTY850JC	Supportive	Autosomal dominant	[1]
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References

1	Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013 Jun 6;121(23):4791-9. doi: 10.1182/blood-2012-10-461392. Epub 2013 Apr 9.