KEGG DISEASE: Hereditary hyperferritinaemia-cataract syndrome

KEGG

DISEASE: Hereditary hyperferritinaemia-cataract syndrome

Entry

H02204                      Disease

Name

Hereditary hyperferritinaemia-cataract syndrome;
Bonneau-Beaumont syndrome

Description

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of lens
    9B10  Cataract
     H02204  Hereditary hyperferritinaemia-cataract syndrome

Pathway

Ferroptosis

Mineral absorption

Gene

FTL [HSA:2512] [KO:K13625]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R

Title

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.

Journal

Br J Haematol 115:334-40 (2001)
DOI:10.1046/j.1365-2141.2001.03116.x

Reference

Authors

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P

Title

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

Journal

Haematologica 98:e42-3 (2013)
DOI:10.3324/haematol.2012.077198

LinkDB

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