hereditary Hyperferritinemia with congenital cataracts

A heriditary autosomal dominant disorder of iron metabolism characterized by the development of cataracts at a young age and up to age 40, elevated serum FERRITIN, but normal serum iron and ERYTHROCYTE COUNT. Mutations in the FTL gene have been identified. OMIM: 600886

Also Known As:

Hyperferritinemia, hereditary, with congenital cataracts; Bonneau-Beaumont Syndrome; Dominant hyperferritinemia and cataract; Hereditary Hyperferritinemia with Congenital Cataracts; Hereditary hyperferritinemia-cataract syndrome; Hyperferritinemia cataract syndrome; Hyperferritinemia-Cataract Syndrome

Networked: 76 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cataract (Cataracts)
2.	Iron Overload
3.	Hyperferritinemia
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Rare Diseases (Rare Disease)

Experts

1.	Camaschella, Clara: 4 articles (10/2010 - 11/2002)
2.	Cremonesi, Laura: 4 articles (10/2010 - 10/2003)
3.	Ferrari, Maurizio: 3 articles (10/2010 - 10/2003)
4.	Beaumont, Carole: 3 articles (03/2009 - 09/2003)
5.	Levi, Sonia: 3 articles (02/2006 - 10/2003)
6.	Beaumont, C: 3 articles (10/2001 - 01/2001)
7.	Burdon, Kathryn P: 2 articles (03/2017 - 07/2007)
8.	Craig, Jamie E: 2 articles (03/2017 - 07/2007)
9.	Mackey, David A: 2 articles (03/2017 - 07/2007)
10.	Aguilar-Martinez, Patricia: 2 articles (04/2013 - 05/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to hereditary Hyperferritinemia with congenital cataracts:

1.	HepcidinsIBA 07/28/2010 - "To study the role of hepcidin in hereditary hyperferritinemia cataract syndrome (HHCS). "
2.	ApoferritinsIBA 01/01/2022 - "This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. " 10/01/2017 - "Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome." 03/01/2017 - "Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome." 04/01/2005 - "Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome." 11/01/1999 - "Recent investigations indicated the involvement of naturally occurring IRE mutations of the ferritin L subunit in the hyperferritinemia-cataract syndrome, a hereditary disorder. "
3.	IronIBA 04/01/2003 - "[Genetics of iron overloads and hereditary hyperferritinemia cataract syndrome]." 09/01/2021 - "A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China." 04/01/2015 - "Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant hereditary disease, characterized by hyperferritinemia but with absence of body iron excess and early onset of bilateral cataracts. " 01/01/2013 - "C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS). " 02/01/2006 - "Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism."
4.	Ferritins (Ferritin)IBA 05/21/2021 - "Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases." 04/01/2015 - "Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome." 01/15/2010 - "In this paper, we describe the molecular pathogenesis of non-hereditary hyperferritinemia cataract syndrome (non-H-HCS) in a patient with typical HHCS ocular lens morphology and high ferritin levels without obvious family history. " 01/01/2001 - "[A potential etiology of elevated ferritin: hyperferritinemia-cataract syndrome]." 06/01/1998 - "Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome."
5.	ElementsIBA 09/10/1999 - "Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome." 06/01/1999 - "Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family." 09/01/2018 - "We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. " 01/15/2010 - "A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome." 01/01/2009 - "Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome."
6.	Messenger RNA (mRNA)IBA 10/01/2002 - "Hereditary hyperferritinemia-cataract syndrome is associated with point mutations or deletions in the IRE of L-subunit mRNA and is characterized by constitutively increased synthesis of L-subunits but is unrelated to iron overload. " 06/01/2000 - "Hereditary hyperferritinemia/cataract syndrome arises from various point mutations or deletions within a protein-binding sequence in the 5'-UTR of the L-ferritin mRNA. " 08/19/2010 - "For six disease-states (Hyperferritinemia Cataract Syndrome, beta-Thalassemia, Cartilage-Hair Hypoplasia, Retinoblastoma, Chronic Obstructive Pulmonary Disease (COPD), and Hypertension), we identified multiple SNPs in UTRs that alter the mRNA structural ensemble of the associated genes. " 10/01/2003 - "Hereditary hyperferritinemia cataract syndrome is caused by mutations of the iron responsive elements (IREs) of L-ferritin mRNA. " 10/31/2003 - "These data indicate that the inability of cells to more strictly control cytosolic levels of L-chain may augment its accumulation in lenses of humans with hereditary hyperferritinemia cataract syndrome, which is caused by overexpression of L-chain due to mutation in the regulatory element in the untranslated region of the mRNA of the chain."
7.	5' Untranslated Regions (5' UTR)IBA 04/01/2013 - "Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype." 10/01/2017 - "Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. " 01/01/2022 - "Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. " 03/01/2009 - "Genetic causes of hyperferritinemia associated to early cataract include mutations in the iron responsive element in the 5' untranslated region of the L ferritin mRNA, responsible for the hereditary hyperferritinemia cataract syndrome. " 02/01/2006 - "Hereditary hyperferritinemia cataract syndrome (HHCS) is caused by mutations in the regulatory iron responsive element (IRE) in the 5'UTR of the L-ferritin transcript that reduce binding affinity to the iron regulatory proteins (IRPs) and lead to a constitutive upregulation of the protein in tissue and serum. "
8.	Transferrin (beta 2 Transferrin)IBA 09/01/2011 - "Hereditary hyperferritinemia-cataract syndrome (HHCS) is one of the differential diagnoses of hyperferritinemia (HF) with low or normal transferrin saturation but is usually not associated with anemia. " 10/01/2001 - "In hyperferritinemia cataract syndrome, serum iron and transferrin saturation are normal, and the elevated serum ferritin level is the consequence of an autosomal dominant disorder. " 05/01/1998 - "However, several hyperferritinemic conditions are not related to iron overload, but may imply severe disorders (inflammations, neoplasia) or a deregulation of ferritin synthesis (hereditary hyperferritinemia-cataract syndrome), and iron overload secondary to aceruloplasminemia, and the recently described dysmetabolic-associated liver iron overload syndrome, are characterized by low or normal transferrin saturation levels. "
9.	metal transporting protein 1 (ferroportin)IBA 04/01/2023 - "In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-cataract syndrome. " 12/01/2010 - "However, if such values develop in the absence of iron overload, they may be secondary to hemochromatosis type 4a (ferroportin disease) or more often to hereditary hyperferritinemia-cataract syndrome (HHCS; Aguilar-Martinez et al., Am J Gastroenterol 100:1185-1194, 2005; Ferrante et al., Eur J Gastroenterol Hepatol 17:1247-1253, 2005). " 05/01/2005 - "Hereditary hyperferritinemias are linked to mutations of three genes: the L-ferritin gene responsible for the hereditary hyperferritinemia cataract syndrome (without iron overload), the ferroportin gene leading to a dominant form of iron overload, and the ceruloplasmin (CP) gene corresponding to an iron overload syndrome with neurological symptoms. "
10.	Iron-Regulatory Proteins (Iron-Responsive Element Binding Proteins)IBA 06/01/1998 - "Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal and dominant disease caused by heterogeneous mutations in the iron responsive element (IRE) of the 5' untranslated flanking region of ferritin L-chain mRNA, which reduce the binding to the trans iron regulatory proteins and make L-chain synthesis constitutively upregulated. " 02/01/2006 - "Hereditary hyperferritinemia cataract syndrome (HHCS) is caused by mutations in the regulatory iron responsive element (IRE) in the 5'UTR of the L-ferritin transcript that reduce binding affinity to the iron regulatory proteins (IRPs) and lead to a constitutive upregulation of the protein in tissue and serum. "

Therapies and Procedures

1.	Cryotherapy (Therapy, Cold) 12/23/2021 - "The precision care included cryotherapy to prevent retinal detachment in COL2A1 Stickler syndrome, osteoporosis management in patients with LRP5-associated familial exudative vitreoretinopathy, and avoidance of unnecessary phlebotomy in hyperferritinemia-cataract syndrome. "
2.	Lenses 10/31/2003 - "These data indicate that the inability of cells to more strictly control cytosolic levels of L-chain may augment its accumulation in lenses of humans with hereditary hyperferritinemia cataract syndrome, which is caused by overexpression of L-chain due to mutation in the regulatory element in the untranslated region of the mRNA of the chain."