Diamond-Blackfan anemia 9
Findings
No curated finding names Diamond-Blackfan anemia 9 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 RPS10 gene.
Definition from the Mondo Disease Ontology (MONDO:0013216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset
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.
- AnemiaHPOHP:0001903
- 5 of 5 reported patients
- Webbed neckHPOHP:0000465
- 1 of 5 reported patients
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.
- RPS10HGNC:10383
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 9
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPS10Diamond-Blackfan Anaemia type 9Diamond-Blackfan anemia caused by mutation in RPS10Diamond-Blackfan Anemia type 9RPS10 Diamond-Blackfan anaemiaRPS10 Diamond-Blackfan anemia