Details of Disease

General Information of Disease (ID: DIS8SWG0)

Disease Name Autosomal dominant sideroblastic anemia
Synonyms anemia, sideroblastic, 4; SIDBA4; anemia, sideroblastic, autosomal dominant; sideroblastic anemia, autosomal dominant
Definition Autosomal dominant form of sideroblastic anemia.
Disease Hierarchy
DISLT2PU: Inherited sideroblastic anemia
DIS4F3X1: Sideroblastic anemia
DIS3HIWD: Autosomal dominant disease
DIS8SWG0: Autosomal dominant sideroblastic anemia
Disease Identifiers
MONDO ID
MONDO_0008422
UMLS CUI
C4225428
OMIM ID
182170
MedGen ID
902781

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HSPA9 TTMTPG3 Strong Autosomal dominant [1]
HSPA9 TTMTPG3 Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSPA9 OT4TMVS9 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Knockdown of Hspa9, a del(5q31.2) gene, results in a decrease in hematopoietic progenitors in mice. Blood. 2011 Feb 3;117(5):1530-9. doi: 10.1182/blood-2010-06-293167. Epub 2010 Dec 1.
2 Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21.