Diamond-Blackfan anemia 10
Findings
No curated finding names Diamond-Blackfan anemia 10 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 RPS26 gene.
Definition from the Mondo Disease Ontology (MONDO:0013217), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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
- 8 of 8 reported patients
- Macrocytic anemiaHPOHP:0001972
- 4 of 4 reported patients
- Atresia of the external auditory canalHPOHP:0000413
- 2 of 4 reported patients
- Cleft palateHPOHP:0000175
- 2 of 4 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 4 reported patients
- Malar flatteningHPOHP:0000272
- 2 of 4 reported patients
- MicrotiaHPOHP:0008551
Show the remaining 3
- Morgagni diaphragmatic herniaHPOHP:0025194
- 1 of 4 reported patients
- Renal duplicationHPOHP:0000075
- 1 of 4 reported patients
- Supernumerary ribsHPOHP:0005815
- 1 of 4 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.
- RPS26HGNC:10414
- Definitive · G2P · Autosomal dominant · 2020
- 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 10
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPS26Diamond-Blackfan Anaemia type 10Diamond-Blackfan anemia caused by mutation in RPS26Diamond-Blackfan Anemia type 10RPS26 Diamond-Blackfan anaemiaRPS26 Diamond-Blackfan anemia