Diamond-Blackfan anemia 5
MONDO:0012925Mondo
Findings
No curated finding names Diamond-Blackfan anemia 5 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 RPL35A gene.
Definition from the Mondo Disease Ontology (MONDO:0012925), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Decreased total leukocyte countHPOHP:0001882
- Erythroid hypoplasiaHPOHP:0012133
- Global developmental delayHPOHP:0001263
- HypertelorismHPOHP:0000316
- HypospadiasHPOHP:0000047
- Low-set earsHPOHP:0000369
- Macrocytic anemiaHPOHP:0001972
- Ventricular septal defectHPOHP:0001629
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.
- RPL35AHGNC:10345
- 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 5
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPL35ADiamond-Blackfan Anaemia type 5Diamond-Blackfan anemia caused by mutation in RPL35ADiamond-Blackfan Anemia type 5RPL35A Diamond-Blackfan anaemiaRPL35A Diamond-Blackfan anemia