Diamond-Blackfan anemia 1
Findings
No curated finding names Diamond-Blackfan anemia 1 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 RPS19 gene.
Definition from the Mondo Disease Ontology (MONDO:0007110), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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
- 8 of 9 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 8 of 9 reported patients
- Macrocytic anemiaHPOHP:0001972
- 8 of 10 reported patients
- Small thenar eminenceHPOHP:0001245
- 7 of 10 reported patients
- Persistence of hemoglobin FHPOHP:0011904
- 6 of 9 reported patients
- ThrombocytosisHPOHP:0001894
- 21 of 38 reported patients
- Short statureHPO
Show the remaining 11
- Global developmental delayHPOHP:0001263
- 1 of 10 reported patients
- Spina bifida occultaHPOHP:0003298
- 1 of 10 reported patients
- EpicanthusHPOHP:0000286
- 3 of 60 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 55 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 55 reported patients
- Primary congenital glaucomaHPOHP:0008007
- 2 of 55 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.
- RPS19HGNC:10402
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- 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 1
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPS19Diamond-Blackfan Anaemia type 1Diamond-Blackfan anemia caused by mutation in RPS19Diamond-Blackfan Anemia type 1RPS19 Diamond-Blackfan anaemiaRPS19 Diamond-Blackfan anemia