Details of Disease

General Information of Disease (ID: DIS7V020)

Disease Name Severe congenital hypochromic anemia with ringed sideroblasts
Synonyms
anemia, hypochromic microcytic, with iron overload 2; AHMIO2; severe congenital hypochromic sideroblastic anemia; anemia, hypochromic microcytic, with iron overload type 2; severe congenital hypochromic sideroblastic anaemia
Definition
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
Disease Hierarchy
DISLT2PU: Inherited sideroblastic anemia
DISQL71U: Inherited deficiency anemia
DISTW0J6: Congenital anemia
DIST0BXW: Anemia, hypochromic microcytic with iron overload
DIS7V020: Severe congenital hypochromic anemia with ringed sideroblasts
Disease Identifiers
MONDO ID
MONDO_0014094
UMLS CUI
C3808920
OMIM ID
615234
MedGen ID
815250
Orphanet ID
300298

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
STEAP3 OTS9GZK5 Moderate Autosomal dominant [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.