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 This review summarizes the current knowledge on TIMP3 and how mutations in TIMP3 cause SFD to provide insights into how we can study this disease going forward. 30129971 2019
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family. 8981947 1997
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. 30668888 2019
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice. 20206286 2010
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE It has been demonstrated that SFD-associated TIMP3 variants are more resistant to turnover, which is thought to be a result of dimerisation and thought to explain the accumulation of TIMP3 in drusen-like deposits at the level of Bruch's membrane. 28847738 2017
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The new findings add to an emerging pattern of SFD mutations which all seem to affect the C-terminal region of the mature TIMP3 protein. 8728699 1996
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease UNIPROT We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family. 8981947 1997
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease UNIPROT We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. 7894485 1994
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease MGD Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. 12147610 2002
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE TIMP3, which encodes a potent angiogenesis inhibitor, is mutated in Sorsby fundus dystrophy, a macular degenerative disease with submacular choroidal neovascularization. 12652295 2003
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The TIMP3 p.E139K mutation is another cause of SFD. 19536307 2009
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GermlineCausalMutation disease ORPHANET We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. 7894485 1994
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 7894485 1994
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE However, the mechanism by which TIMP-3 mutations induce the disease phenotype in SFD remains unknown. 11821400 2002
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Thus far, Sorsby's fundus dystrophy appears to be the only phenotype known to be associated with mutations in TIMP3. 9152224 1997
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 Biomarker disease BEFREE Mutations in the human TIMP-3 gene cause a dominantly inherited, adult-onset blindness (Sorsby's fundus dystrophy or SFD). 9164653 1996
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. 8747441 1995
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE His158Arg is the first reported TIMP3 SFD coding sequence mutation that does not create an unpaired cysteine. 16989765 2006
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Thus, understanding the molecular mechanisms that contribute to CNV as a consequence of TIMP-3 mutations will provide insight into the pathophysiology in SFD and likely the neovascular component of the more commonly seen AMD. 31757977 2019
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease UNIPROT The new findings add to an emerging pattern of SFD mutations which all seem to affect the C-terminal region of the mature TIMP3 protein. 8728699 1996
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene causing SFD has made it possible to readdress the question of genetic and clinical heterogeneity. 9400791 1997
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 AlteredExpression disease BEFREE These observations, together with the recent finding that expression of TIMP-3 is increased, rather than decreased, in eyes from patients with SFD, provides compelling evidence that dimerized TIMP-3 plays an active role in the disease process by accumulating in the eye. 10854443 2000
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. 8639088 1996
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		1.000 GeneticVariation disease BEFREE More recently, we have shown that mutations in TIMP3 cause the autosomal dominant disorder Sorsby's fundus dystrophy (SFD). 8808469 1995