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Pathway Description
Fabry Disease
Homo sapiens
Disease Pathway
Created: 2022-11-23
Last Updated: 2023-10-25
Fabry disease, also called Anderson-Fabry disease is an X-linked inherited condition that begins in childhood. The symptoms are caused by the buildup of a substance called globotriaosylceramide in cells in the body, due to a mutation in the GLA gene, that causes a malfunction in the production of an enzyme called alpha-galactosidase A, which, when functioning properly, breaks down globotriaosylceramide. The symptoms include angiokeratomas, tinnitus, episodes of pain in the hands and feet and corneal opacity. This condition can also lead to severe complications such as heart attack, stroke and kidney damage.
References
Fabry Disease References
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Mehta A, Hughes DA: Fabry Disease.
Pubmed: 20301469
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Pubmed: 14702039
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Pubmed: 10751414
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Pubmed: 11230166
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Pubmed: 12411432
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Pubmed: 9305923
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Pubmed: 28181337
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Pubmed: 30090628
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Pubmed: 11018465
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Pubmed: 15063729
Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J: The DNA sequence and analysis of human chromosome 14. Nature. 2003 Feb 6;421(6923):601-7. doi: 10.1038/nature01348. Epub 2003 Jan 1.
Pubmed: 12508121
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