Diamond-Blackfan anemia 12
Findings
No curated finding names Diamond-Blackfan anemia 12 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 RPL15 gene.
Definition from the Mondo Disease Ontology (MONDO:0014245), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Elevated red cell adenosine deaminase activityHPOHP:0030270
- 1 of 1 reported patient
- Macrocytic anemiaHPOHP:0001972
- 1 of 1 reported patient
- Normochromic anemiaHPOHP:0001895
- 1 of 1 reported patient
- ReticulocytopeniaHPOHP:0001896
- 1 of 1 reported patient
- Triphalangeal thumbHPOHP:0001199
- 1 of 1 reported patient
- Ventricular septal defectHPOHP:0001629
- 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.
- RPL15HGNC:10306
- 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 12
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPL15Diamond-Blackfan Anaemia type 12Diamond-Blackfan anemia caused by mutation in RPL15Diamond-Blackfan Anemia type 12RPL15 Diamond-Blackfan anaemiaRPL15 Diamond-Blackfan anemia