autosomal dominant sideroblastic anemia
Findings
No curated finding names autosomal dominant sideroblastic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of sideroblastic anemia.
Definition from the Mondo Disease Ontology (MONDO:0008422), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal erythrocyte morphologyHPOHP:0001877
- Refractory anemia with ringed sideroblastsHPOHP:0004828
- Sideroblastic anemiaHPOHP:0001924
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HSPA9HGNC:5244
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: autosomal dominant sideroblastic anemia
- Also called
- sideroblastic anemia, autosomal dominant