TIMP3, TIMP metallopeptidase inhibitor 3, 7078

N. diseases: 325; N. variants: 19
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE All were later found to carry a predicted C113G mutation in the TIMP3 gene, other known mutations in which are associated with Sorsby's fundus dystrophy. 26493035 2016
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The eyes of an SFD donor with a confirmed TIMP-3 mutation were examined using histologic techniques demonstrating connective tissue, calcium, and lipid. 10711711 2000
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE TIMP3 novel variants were found in two SFD patients, PRPH2 variants in 14 PD patients, ABCA4 variants in four PD patients, and p.Arg838His GUCY2D mutation in six patients diagnosed with dominant CRD; one patient additionally had a CRX VUS. 25082885 2014
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 PosttranslationalModification disease BEFREE A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. 23023527 2013
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease CTD_human
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease UNIPROT A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 8634721 1995
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE These data show that increased deposition of active TIMP-3, rather than dysregulation of metalloproteinase inhibition, is likely to be the primary, initiating event in SFD. 16223891 2005
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the disease and to report the effect of anti-VEGF therapy. 25766588 2015
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The pathogenic role of TIMP-3 in these diseases is uncertain, but causative mutations have been identified in the TIMP-3 gene of patients with SFD. 11801512 2002
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Specific mutation analysis of the TIMP3 gene confirmed SFD, identifying a pathogenic mutation of p.Ser204Cys:c.610A>T. 31415707 2019
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE Increased expression of TIMP-3 mRNA does not cause accumulation of TIMP-3 in the Bruch membrane of Sorsby fundus dystrophy nor is it likely to cause age-related macular degeneration. 14597066 2003
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The Y172C mutation in the TIMP3 gene is another cause of Sorsby fundus dystrophy. 11879143 2002
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism. 11734514 2001
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Mutations in the Timp-3 gene cause Sorsby fundus dystrophy (SFD), a hereditary macular degenerative disease. 15123717 2004
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Furthermore, both of the assemblies associated with SFD can be explained in terms of collagen VI tetramers, one in which the tetramers bind to the mutant tissue inhibitor of metalloproteinases-3 (the gene product of TIMP-3) and the other in which little or no binding occurs. 12064931 2002
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE These enhanced signaling events appear to be mediated as a consequence of a post-transcriptionally regulated increase in the expression of membrane-associated VEGFR-2 in endothelial cells of Timp-3(156/156) mutant mice as well as in human Sorsby fundus dystrophy eyes. 19478078 2009
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions. 27601084 2016
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply. 7550309 1995
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE TIMP-3 is a component of the increased ECM sequestered in Bruch's membrane in SFD. 9924344 1998
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE This haplotype analysis has refined the TIMP3 gene localization to a 1- to 3-cM interval between marker loci D22S273 and D22S281 and provides strong evidence for a single mutational event being responsible for the majority of SFD identified in the British Isles. 8919688 1996
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 CausalMutation disease CLINVAR
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE This review confines itself to a discussion of the known biochemical properties of the wild-type and SFD TIMP3 proteins and attempts to relate these to the pathology encountered in SFD patients. 16259644 2005
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease UNIPROT In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply. 7550309 1995
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. 12757930 2003
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Matrix bound SFD mutant TIMP-3s are thermodynamically more stable than wild type. 17383996 2007