Details of Disease | DrugMAP

General Information of Disease (ID: DIS1XL7V)

Disease Name	Congenital dyserythropoietic anemia type type 1B
Synonyms	CDAN1B; CDA, type IB; anemia, congenital dyserythropoietic, type IB; congenital dyserythropoietic anemia type type 1B; dyserythropoietic anemia, congenital, type IB
Disease Hierarchy	DISCBVO6: Congenital dyserythropoietic anemia type 1 DIS1XL7V: Congenital dyserythropoietic anemia type type 1B
Disease Identifiers	MONDO ID MONDO_0014285 UMLS CUI C3810185 OMIM ID 615631 MedGen ID 816515

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
CDIN1	OTCAOZP1	Strong	Autosomal recessive	[1]
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References

1	Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28.