Details of Disease | DrugMAP

General Information of Disease (ID: DIS0LANJ)

Disease Name	Sideroblastic anemia 3
Synonyms	GLRX5-related sideroblastic anaemia; SIDBA3; adult-onset autosomal recessive sideroblastic anaemia; GLRX5-related sideroblastic anemia; anemia, sideroblastic, 3, pyridoxine-refractory; adult-onset autosomal recessive sideroblastic anemia
Disease Hierarchy	DISHNY7Q: Mitochondrial substrate carrier disorder DIS4F3X1: Sideroblastic anemia DIS04G9O: Autosomal recessive sideroblastic anemia DIS0LANJ: Sideroblastic anemia 3
Disease Identifiers	MONDO ID MONDO_0014804 UMLS CUI C4225155 OMIM ID 616860 MedGen ID 895975 Orphanet ID 255132

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
GLRX5	OTE3L48D	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.