Diamond-Blackfan anemia 8
Findings
No curated finding names Diamond-Blackfan anemia 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.
Definition from the Mondo Disease Ontology (MONDO:0012939), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Increased mean corpuscular volumeHPOHP:0005518
- 1 of 1 reported patient
- Macrocytic anemiaHPOHP:0001972
- 1 of 1 reported patient
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.
- RPS7HGNC:10440
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 8
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPS7Diamond-Blackfan Anaemia type 8Diamond-Blackfan anemia caused by mutation in RPS7Diamond-Blackfan Anemia type 8RPS7 Diamond-Blackfan anaemiaRPS7 Diamond-Blackfan anemia