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[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].

Medicina clinica - 10 Jun 2006

García Erce José Antonio, Cortés Teresa, Cremonesi Laura, Cazzola Mario, Pérez-Lungmus Gonzalo, Giralt Manual

Abstract excerpt

BACKGROUND AND OBJECTIVE: Nuclear congenital cataracts associated with hyperferritinemia--hereditary hyperferritinemia cataract syndrome (HHCS)--without clinical or biochemical signs of iron overload have been recently described in several Spanish families. This HHCS is associated with mutations in the gene of ferritin subunit L, located in chromosome 19. We describe 2 new families with HHCS, one of them...

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Source

Identifiers

PMID: 16900584
DOI: 10.1157/13089990

Genes

HFE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.Semantic proximity Read ↗

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