Diamond-Blackfan anemia 18
MONDO:0032668Mondo
Findings
No curated finding names Diamond-Blackfan anemia 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- Erythroid hypoplasiaHPOHP:0012133
- 2 of 2 reported patients
- Granulocytic hypoplasiaHPOHP:0012139
- 2 of 2 reported patients
- Steroid-responsive anemiaHPOHP:0033074
- 2 of 2 reported patients · Infantile onset
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.
- RPL18HGNC:10310
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of