IRIDA syndrome
Findings
No curated finding names IRIDA syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Definition from the Mondo Disease Ontology (MONDO:0008788), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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 mean corpuscular volumeHPOHP:0025066
- Very frequent (80% to 99% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Very frequent (80% to 99% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Very frequent (80% to 99% of cases)
- Decreased circulating iron concentrationHPOHP:0040303
- Frequent (30% to 79% of cases)
- Decreased transferrin saturationHPOHP:0012464
- Frequent (30% to 79% of cases)
- Elevated circulating hepcidin concentrationHPOHP:0031877
- Frequent (30% to 79% of cases)
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.
- TMPRSS6HGNC:16517
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: IRIDA syndrome
- Also called
- iron-refractory iron deficiency anaemiairon-refractory iron deficiency anemia