Diamond-Blackfan anemia
MONDO:0015253Mondo
Findings
No curated finding names Diamond-Blackfan anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Definition from the Mondo Disease Ontology (MONDO:0015253), read 2026-09-29. CC BY 4.0.
Features
59 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
- Very frequent (80% to 99% of cases)
- Pure red cell aplasiaHPOHP:0012410
- Very frequent (80% to 99% of cases)
- Abnormality of the headHPOHP:0000234
- Frequent (30% to 79% of cases)
- Erythroid hypoplasiaHPOHP:0012133
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Increased mean corpuscular volumeHPOHP:0005518
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- Macrocytic dyserythropoietic anemiaHPOHP:0005532
- Frequent (30% to 79% of cases)
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- Persistence of hemoglobin FHPOHP:0011904
- Frequent (30% to 79% of cases)
- ReticulocytopeniaHPOHP:0001896
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
Show the remaining 47
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Occasional (5% to 29% of cases)
- Abnormality of the thenar eminenceHPOHP:0001227
- Occasional (5% to 29% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Occasional (5% to 29% of cases)
- Absent thumbHPOHP:0009777
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
Genes
25 genes
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.
- RPS10HGNC:10383
- Definitive · ClinGen · Unknown · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- RPS19HGNC:10402
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- RPS24HGNC:10411
- Definitive · ClinGen · Unknown · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- GATA1HGNC:4170
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (22)
- Diamond-Blackfan anemia 1
- Diamond-Blackfan anemia 10
- Diamond-Blackfan anemia 11
- Diamond-Blackfan anemia 12
- Diamond-Blackfan anemia 13
- Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- Diamond-Blackfan anemia 16
- Diamond-Blackfan anemia 17
- Diamond-Blackfan anemia 18
- Diamond-Blackfan anemia 19
- Diamond-Blackfan anemia 2
- Diamond-Blackfan anemia 20
- Diamond-Blackfan anemia 21
- Diamond-Blackfan anemia 22
- Diamond-Blackfan anemia 3
- Diamond-Blackfan anemia 4
- Diamond-Blackfan anemia 5
- Diamond-Blackfan anemia 6
- Diamond-Blackfan anemia 7
Other names
14 names
Resolves to: Diamond-Blackfan anemia
- Also called
- Aase syndromeAase-Smith II syndromeBlackfan-Diamond anaemiaBlackfan-Diamond anemiachronic constitutional pure red cell anemiacongenital hypoplastic anaemiacongenital hypoplastic anemiacongenital hypoplastic anemia, Blackfan-Diamond typecongenital PRCAcongenital pure red cell aplasiaDBADiamond Blackfan Anemiaerythrogenesis imperfectainherited erythroblastopenia