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ENHyperferritinemia with or Without Cataract (HRFTC)
Alias:
Hyperferritinemia-Cataract Syndrome
Hereditary Hyperferritinemia with Congenital Cataracts
Hhcs
Hyperferritinemia, Hereditary, with Congenital Cataracts
Hereditary Hyperferritinemia-Cataract Syndrome
Bonneau-Beaumont Syndrome
Hrftc
Cataract-Hyperferritinemia Syndrome
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Hyperferritinemia with or Without Cataract, also known as hyperferritinemia-cataract syndrome, is related to neurodegeneration with brain iron accumulation 3 and iron metabolism disease. An important gene associated with Hyperferritinemia with or Without Cataract is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. Affiliated tissues include eye and liver, and related phenotypes are cataract and abnormality of metabolism/homeostasis
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MALACARDS
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