atransferrinemia
Findings
No curated finding names atransferrinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Definition from the Mondo Disease Ontology (MONDO:0008846), read 2026-09-29. CC BY 4.0.
Features
6 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
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
- Abnormality of the pancreasHPOHP:0001732
- Occasional (5% to 29% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- HypothyroidismHPOHP:0000821
- Occasional (5% to 29% 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.
- TFHGNC:11740
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: atransferrinemia
- Also called
- congenital atransferrinemiacongenital hypotransferrinemiafamilial hypotransferrinemiahereditary atransferrinemia