Diamond-Blackfan anemia 13
Findings
No curated finding names Diamond-Blackfan anemia 13 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 RPS29 gene.
Definition from the Mondo Disease Ontology (MONDO:0014394), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
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 facial shapeHPOHP:0001999
- 0 of 6 reported patients
- Elevated red cell adenosine deaminase activityHPOHP:0030270
- Normocytic anemiaHPOHP:0001897
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.
- RPS29HGNC:10419
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 13
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPS29Diamond-Blackfan Anaemia type 13Diamond-Blackfan anemia caused by mutation in RPS29Diamond-Blackfan Anemia type 13RPS29 Diamond-Blackfan anaemiaRPS29 Diamond-Blackfan anemia