hereditary hyperferritinemia with congenital cataracts
Findings
No curated finding names hereditary hyperferritinemia with congenital cataracts yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Definition from the Mondo Disease Ontology (MONDO:0010952), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Anterior subcapsular cataractHPOHP:0010923
- 7 of 7 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 15 of 15 reported patients
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 6 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Decreased transferrin saturationHPOHP:0012464
- 1 of 7 reported patients
- Abnormal circulating iron concentrationHPOHP:0040130
- 0 of 8 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
- Definitive · G2P · Autosomal dominant · 2019
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hereditary hyperferritinemia with congenital cataracts
- Also called
- hereditary hyperferritinemia-cataract syndromeHHCSHyperferritinemia Cataract Syndrome