Diamond-Blackfan anemia 21
MONDO:0031071Mondo
Findings
No curated finding names Diamond-Blackfan anemia 21 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
37 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
- 6 of 6 reported patients
- Erythroid hypoplasiaHPOHP:0012133
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 4 of 6 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 6 reported patients
- ObesityHPOHP:0001513
- 4 of 6 reported patients
- Pes planusHPOHP:0001763
- 3 of 6 reported patients
- Short statureHPOHP:0004322
- 3 of 6 reported patients
- Aortic regurgitationHPOHP:0001659
- 1 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 6 reported patients
- Hallux valgusHPOHP:0001822
- 2 of 6 reported patients
- Horizontal eyebrowHPOHP:0011228
- 2 of 6 reported patients
- Low-set earsHPOHP:0000369
- 2 of 6 reported patients
Show the remaining 25
- NevusHPOHP:0003764
- 2 of 6 reported patients
- Protruding earHPOHP:0000411
- 2 of 6 reported patients
- Short toeHPOHP:0001831
- 2 of 6 reported patients
- SynophrysHPOHP:0000664
- 2 of 6 reported patients
- Tapered fingerHPOHP:0001182
- 2 of 6 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 6 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.
- HEATR3HGNC:26087
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: Diamond-Blackfan anemia 21
- Also called
- DBA21diamond-blackfan anaemia 21