Diamond-Blackfan anemia 6
Findings
No curated finding names Diamond-Blackfan anemia 6 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 RPL5 gene.
Definition from the Mondo Disease Ontology (MONDO:0012937), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Cleft upper lipHPOHP:0000204
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Persistence of hemoglobin FHPOHP:0011904
- Frequent (30% to 79% of cases)
- Triphalangeal thumbHPOHP:0001199
- 8 of 20 reported patients
- Atrial septal defectHPOHP:0001631
- 3 of 20 reported patients
- Increased mean corpuscular volumeHPO
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.
- RPL5HGNC:10360
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 6
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPL5Diamond-Blackfan Anaemia type 6Diamond-Blackfan anemia caused by mutation in RPL5Diamond-Blackfan Anemia type 6RPL5 Diamond-Blackfan anaemiaRPL5 Diamond-Blackfan anemia