Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.

Klinische Padiatrie - 1 Nov 2011

Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald H-J, Meneksedag C, Kohne E, Gencik M, Debatin K-M, Cario H

Abstract excerpt

BACKGROUND: The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin and early onset cataract. Mutations in the iron responsive element (IRE) within the 5' untranslated region of the L-ferritin (FTL) gene lead to constitutive L-ferritin synthesis resulting in hyperferritinemia. Bilateral cataract formation is caused by the intracellular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5' Untranslated Regions
Share to Apoferritins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cataract

Share to Chromosome Aberrations

Share to Diagnosis, Differential

Share to Iron Metabolism Disorders

Share to Ophthalmoscopy

Share to Point Mutation

Source

Identifiers

PMID: 22020773
DOI: 10.1055/s-0031-1287825

Genes

FTL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.PMID 22020773Read ↗

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.Semantic proximity Read ↗

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.Semantic proximity Read ↗

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.Semantic proximity Read ↗

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.Semantic proximity Read ↗

Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature Review Semantic proximity Read ↗

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.Semantic proximity Read ↗

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.Semantic proximity Read ↗

Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome.Semantic proximity Read ↗

[Hereditary hyperferritinemia cataract syndrome--the first family in Germany].Semantic proximity Read ↗

The hereditary hyperferritinemia-cataract syndrome: a family study.Semantic proximity Read ↗

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.Semantic proximity Read ↗

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.