Diamond-Blackfan anemia 11
Findings
No curated finding names Diamond-Blackfan anemia 11 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 RPL26 gene.
Definition from the Mondo Disease Ontology (MONDO:0013964), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
18 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.
- Absent thumbHPOHP:0009777
- 1 of 1 reported patient
- Anemia of inadequate productionHPOHP:0010972
- 1 of 1 reported patient
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 1 reported patient
- Bicuspid aortic valveHPOHP:0001647
- 1 of 1 reported patient
- Bilateral cleft palateHPOHP:0100337
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Decreased total neutrophil countHPO
Show the remaining 6
- Hypoplasia of the ulnaHPOHP:0003022
- 1 of 1 reported patient
- Radioulnar synostosisHPOHP:0002974
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 1 reported patient
- Unilateral radial aplasiaHPOHP:0011908
- 1 of 1 reported patient
- Unilateral renal agenesisHPOHP:0000122
- 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.
- RPL26HGNC:10327
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 11
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPL26Diamond-Blackfan Anaemia type 11Diamond-Blackfan anemia caused by mutation in RPL26Diamond-Blackfan Anemia type 11RPL26 Diamond-Blackfan anaemiaRPL26 Diamond-Blackfan anemia