Hyperferritinemia cataract syndrome

Common Name(s)

Hyperferritinemia cataract syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperferritinemia cataract syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperferritinemia cataract syndrome" returned 22 free, full-text research articles on human participants. First 3 results:

Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.
 

Author(s): Dan Yin, Vasu Kulhalli, Ann P Walker

Journal: Hepatology. 2014 Mar;59(3):1204-6.

 

Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient ...

Last Updated: 27 Feb 2014

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Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
 

Author(s): Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez

Journal: Haematologica. 2013 Apr;98(4):e42-3.

 

Last Updated: 1 Apr 2013

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[Hereditary hyperferritinemia and cataract syndrome: a de novo mutation].
 

Author(s): D Hernández Martín, A Cervera Bravo, A Balas Pérez

Journal: An Pediatr (Barc). 2008 Apr;68(4):408-10.

 

Last Updated: 8 Apr 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperferritinemia cataract syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.