Diamond-Blackfan anemia 7
Findings
No curated finding names Diamond-Blackfan anemia 7 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 RPL11 gene.
Definition from the Mondo Disease Ontology (MONDO:0012938), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Horseshoe kidneyHPOHP:0000085
- Occasional (5% to 29% of cases)
- Tetralogy of FallotHPOHP:0001636
- Occasional (5% to 29% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Occasional (5% to 29% of cases)
- Increased mean corpuscular volumeHPOHP:0005518
- Macrocytic anemiaHPOHP:0001972
- Small hypothenar eminenceHPOHP:0010487
- Triphalangeal thumbHPOHP:0001199
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.
- RPL11HGNC:10301
- Definitive · G2P · Autosomal dominant · 2018
- 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 7
- Also called
- Diamond-Blackfan anaemia caused by mutation in RPL11Diamond-Blackfan Anaemia type 7Diamond-Blackfan anemia caused by mutation in RPL11Diamond-Blackfan Anemia type 7RPL11 Diamond-Blackfan anaemiaRPL11 Diamond-Blackfan anemia