L-ferritin deficiency
MONDO:0014274Mondo
Findings
No curated finding names L-ferritin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 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 circulating ferritin concentrationHPOHP:0012343
- 2 of 2 reported patients
- Restless legsHPOHP:0012452
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
- 1 of 2 reported patients
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.
- FTLHGNC:3999
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: L-ferritin deficiency
- Also called
- L-ferritin deficiency, dominant and recessive