sideroblastic anemia 3
MONDO:0014804Mondo
Findings
No curated finding names sideroblastic anemia 3 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
10 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
- AnisocytosisHPOHP:0011273
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Decreased mean corpuscular volumeHPOHP:0025066
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Elevated hepatic iron concentrationHPOHP:0012465
- Erythroid hyperplasiaHPOHP:0012132
- HepatosplenomegalyHPOHP:0001433
- Increased circulating ferritin concentrationHPOHP:0003281
- Type II diabetes mellitusHPOHP:0005978
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.
- GLRX5HGNC:20134
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: sideroblastic anemia 3
- Also called
- adult-onset autosomal recessive sideroblastic anaemiaadult-onset autosomal recessive sideroblastic anemiaanemia, sideroblastic, 3, pyridoxine-refractoryGLRX5-related sideroblastic anaemiaGLRX5-related sideroblastic anemiaSIDBA3