SFD
MCID: SRS007
MIFTS: 49

Sorsby Fundus Dystrophy (SFD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sorsby Fundus Dystrophy

MalaCards integrated aliases for Sorsby Fundus Dystrophy:

Name: Sorsby Fundus Dystrophy 57 75 37 29 13 6 40
Fundus Dystrophy, Pseudoinflammatory, of Sorsby 57 53 75 73
Sfd 57 12 53 75
Macular Dystrophy, Hemorrhagic 57 53 75
Sorsby's Fundus Dystrophy 12 15 73
Pseudoinflammatory Fundus Dystrophy of Sorsby 12
Sorsby's Pseudoinflammatory Macular Dystrophy 53
Sorsby Pseudoinflammatory Fundus Dystrophy 59
Hemorrhagic Macular Dystrophy 12

Characteristics:

Orphanet epidemiological data:

59
sorsby pseudoinflammatory fundus dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
sorsby fundus dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 136900
Disease Ontology 12 DOID:0090114
Orphanet 59 ORPHA59181
UMLS via Orphanet 74 C0339515
ICD10 via Orphanet 34 H35.5
MedGen 42 C1850938
MeSH 44 D008268
KEGG 37 H00732

Summaries for Sorsby Fundus Dystrophy

UniProtKB/Swiss-Prot : 75 Sorsby fundus dystrophy: Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years.

MalaCards based summary : Sorsby Fundus Dystrophy, also known as fundus dystrophy, pseudoinflammatory, of sorsby, is related to fundus dystrophy and pseudoinflammatory fundus dystrophy. An important gene associated with Sorsby Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3), and among its related pathways/superpathways are GPCR Pathway and Integrin Pathway. Affiliated tissues include eye, endothelial and lung, and related phenotypes are blindness and abnormal electroretinogram

Disease Ontology : 12 A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has material basis in heterozygous mutation in the TIMP3 gene on chromosome 22q12.

OMIM : 57 Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by Wijesuriya et al., 1996). (136900)

Wikipedia : 76 Sorsby''s fundus dystrophy (SFD) is a very rare genetic disorder characterized by the loss of central... more...

Related Diseases for Sorsby Fundus Dystrophy

Diseases related to Sorsby Fundus Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 29.7 TIMP3 TIMP2 TIMP1 SYN3 MMP3 MMP2
2 pseudoinflammatory fundus dystrophy 10.2 TIMP3 SYN3
3 hereditary retinal dystrophy 10.2 TIMP3 TIMP1
4 sialadenitis 10.2 TIMP3 MMP2
5 conjunctival nevus 10.1 TIMP1 MMP2
6 hypertrophic scars 10.1 TIMP1 MMP2
7 lung giant cell carcinoma 10.1 TIMP1 MMP2
8 maxillary cancer 10.1 TIMP1 MMP2
9 fungal keratitis 10.1 TIMP2 TIMP1
10 cerebral aneurysms 10.1 MMP2 ELN
11 senile ectropion 10.1 MMP2 ELN
12 diabetes mellitus 10.1
13 congenital giant megaureter 10.1
14 spastic entropion 10.1 MMP3 MMP2
15 corneal ulcer 10.1 MMP3 MMP2
16 vitreoretinopathy, neovascular inflammatory 10.0 TIMP2 TIMP1
17 gingival hypertrophy 10.0 TIMP2 MMP3
18 adenomyosis 10.0 TIMP2 MMP2
19 septic arthritis 10.0 MMP3 MMP2
20 joint disorders 10.0 TIMP1 MMP3
21 tendinosis 10.0 TIMP1 MMP3
22 microcystic meningioma 10.0 TIMP2 TIMP1 MMP2
23 nasal cavity squamous cell carcinoma 10.0 TIMP2 TIMP1 MMP2
24 refractive error 10.0 TIMP2 TIMP1 MMP2
25 hydrarthrosis 10.0 MMP3 MMP13
26 coronary artery aneurysm 10.0 MMP3 MMP13
27 late-onset focal dermal elastosis 10.0 FBN1 ELN
28 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.0 FBN1 ELN
29 osteochondritis dissecans 10.0 MMP3 MMP13
30 familial abdominal aortic aneurysm 9.9 ELN FBN1
31 bone structure disease 9.9 MMP3 MMP13
32 chronic actinic dermatitis 9.9 FBN1 ELN
33 pulmonary emphysema 9.9 TIMP2 TIMP1 ELN
34 autosomal recessive cutis laxa type iii 9.9 FBN1 ELN
35 oral submucous fibrosis 9.9 TIMP1 MMP3 MMP2
36 gingival fibromatosis 9.9 TIMP1 MMP3 MMP2
37 phacogenic glaucoma 9.9 FBN1 ELN
38 gingival overgrowth 9.9 TIMP1 MMP3 MMP2
39 supravalvular aortic stenosis 9.9 FBN1 ELN
40 periodontitis 9.9 TIMP1 MMP3 MMP2
41 aortic valve insufficiency 9.9 FBN1 ELN
42 spinal stenosis 9.9 TIMP2 TIMP1 MMP3
43 bone deterioration disease 9.9 TIMP1 MMP3 MMP13
44 bone inflammation disease 9.9 TIMP1 MMP3 MMP13
45 carotid artery disease 9.9 TIMP1 MMP3
46 epidermolysis bullosa dystrophica 9.9 MMP3 FBN1
47 osteoarthritis 9.9 TIMP1 MMP3 MMP13
48 exfoliation syndrome 9.9 FBN1 ELN
49 intracranial aneurysm 9.8 MMP2 ELN
50 cutis laxa, autosomal dominant 1 9.8 FBN1 ELN

Graphical network of the top 20 diseases related to Sorsby Fundus Dystrophy:



Diseases related to Sorsby Fundus Dystrophy

Symptoms & Phenotypes for Sorsby Fundus Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
macular dystrophy
severe visual loss (to 20/200 or worse--legal blindness), in the 4th to 6th decade
yellow deposits on bruch membrane, beginning in the temporal macula
atrophy of the choriocapillaris and retinal pigment epithelium
recurrent choroidal and subretinal neovascular membrane formation with subsequent hemorrhage
more

Clinical features from OMIM:

136900

Human phenotypes related to Sorsby Fundus Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 abnormal electroretinogram 32 HP:0000512
3 glaucoma 32 HP:0000501
4 macular dystrophy 32 HP:0007754

MGI Mouse Phenotypes related to Sorsby Fundus Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 FBN1 MMP13 MMP2 TIMP1 TIMP2 TIMP3
2 homeostasis/metabolism MP:0005376 9.5 FBN1 MMP13 MMP2 MMP3 TIMP1 TIMP2
3 skeleton MP:0005390 9.1 FBN1 MMP13 MMP2 MMP3 SYN3 TIMP1

Drugs & Therapeutics for Sorsby Fundus Dystrophy

Search Clinical Trials , NIH Clinical Center for Sorsby Fundus Dystrophy

Genetic Tests for Sorsby Fundus Dystrophy

Genetic tests related to Sorsby Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Sorsby Fundus Dystrophy 29 TIMP3

Anatomical Context for Sorsby Fundus Dystrophy

MalaCards organs/tissues related to Sorsby Fundus Dystrophy:

41
Eye, Endothelial, Lung, Skin, Bone, Heart, Tongue

Publications for Sorsby Fundus Dystrophy

Articles related to Sorsby Fundus Dystrophy:

(show all 35)
# Title Authors Year
1
Sorsby fundus dystrophy: Insights from the past and looking to the future. ( 30129971 )
2019
2
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. ( 30421618 )
2018
3
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. ( 28847738 )
2017
4
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. ( 28775088 )
2017
5
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. ( 27587748 )
2016
6
ALTERING THE CLINICAL COURSE OF SORSBY FUNDUS DYSTROPHY WITH THE USE OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INTRAOCULAR THERAPY. ( 25383845 )
2014
7
Ranibizumab for the management of Sorsby fundus dystrophy. ( 23099917 )
2013
8
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. ( 23023527 )
2013
9
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. ( 25390527 )
2013
10
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. ( 22183341 )
2012
11
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. ( 25390961 )
2012
12
Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. ( 25389882 )
2011
13
Retraction notice. "Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts" by G. T. Sukhikh and G. M. Soboleva, Vol. 143, No. 1, pp. 64-67, January 2007. ( 20082501 )
2009
14
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. ( 19536307 )
2009
15
Retraction notice. "Genetic aberrations in tissue inhibitor of metalloproteinases-3 lead to manifestations of the myofibroblast phenotye in mouse fibroblasts and fibroblasts of patients with Sorsby fundus dystrophy" by G. M. Soboleva and G. T. Sukhikh, Vol. 143, No. 2, pp. 231-235, February 2007. ( 20082502 )
2009
16
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. ( 18295466 )
2008
17
Clinical course and treatment outcomes of Sorsby fundus dystrophy. ( 18501328 )
2008
18
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). ( 17433023 )
2007
19
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. ( 18019015 )
2007
20
Genetic aberrations in tissue inhibitor of metalloproteinases-3 lead to manifestations of the myofibroblast phenotype in mouse fibroblasts and fibroblasts of patients with Sorsby fundus dystrophy. ( 17970209 )
2007
21
Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy. ( 17151501 )
2006
22
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. ( 16989765 )
2006
23
A novel TIMP3 mutation associated with Sorsby fundus dystrophy. ( 15824229 )
2005
24
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide. ( 15805922 )
2005
25
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. ( 14977790 )
2004
26
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. ( 15180253 )
2003
27
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. ( 14597066 )
2003
28
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. ( 12942551 )
2003
29
A mouse model for Sorsby fundus dystrophy. ( 12147610 )
2002
30
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. ( 11879143 )
2002
31
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. ( 10873973 )
2000
32
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. ( 8981947 )
1997
33
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. ( 9400791 )
1997
34
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. ( 8639088 )
1996
35
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. ( 7783180 )
1995

Variations for Sorsby Fundus Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Sorsby Fundus Dystrophy:

75
# Symbol AA change Variation ID SNP ID
1 TIMP3 p.Ser179Cys VAR_007508 rs137853300
2 TIMP3 p.Tyr191Cys VAR_007509 rs137853299
3 TIMP3 p.Ser204Cys VAR_007510 rs137853298
4 TIMP3 p.Gly189Cys VAR_008290 rs137853301
5 TIMP3 p.Gly190Cys VAR_010901

ClinVar genetic disease variations for Sorsby Fundus Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TIMP3 NM_000362.4(TIMP3): c.610A> T (p.Ser204Cys) single nucleotide variant Pathogenic rs137853298 GRCh37 Chromosome 22, 33255338: 33255338
2 TIMP3 NM_000362.4(TIMP3): c.610A> T (p.Ser204Cys) single nucleotide variant Pathogenic rs137853298 GRCh38 Chromosome 22, 32859351: 32859351
3 TIMP3 NM_000362.4(TIMP3): c.572A> G (p.Tyr191Cys) single nucleotide variant Pathogenic rs137853299 GRCh37 Chromosome 22, 33255300: 33255300
4 TIMP3 NM_000362.4(TIMP3): c.572A> G (p.Tyr191Cys) single nucleotide variant Pathogenic rs137853299 GRCh38 Chromosome 22, 32859313: 32859313
5 TIMP3 NM_000362.4(TIMP3): c.536C> G (p.Ser179Cys) single nucleotide variant Pathogenic rs137853300 GRCh37 Chromosome 22, 33255264: 33255264
6 TIMP3 NM_000362.4(TIMP3): c.536C> G (p.Ser179Cys) single nucleotide variant Pathogenic rs137853300 GRCh38 Chromosome 22, 32859277: 32859277
7 TIMP3 NM_000362.4(TIMP3): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs137853301 GRCh37 Chromosome 22, 33255293: 33255293
8 TIMP3 NM_000362.4(TIMP3): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs137853301 GRCh38 Chromosome 22, 32859306: 32859306
9 TIMP3 NM_000362.4(TIMP3): c.484G> T (p.Glu162Ter) single nucleotide variant Pathogenic rs137853302 GRCh37 Chromosome 22, 33255212: 33255212
10 TIMP3 NM_000362.4(TIMP3): c.484G> T (p.Glu162Ter) single nucleotide variant Pathogenic rs137853302 GRCh38 Chromosome 22, 32859225: 32859225

Expression for Sorsby Fundus Dystrophy

Search GEO for disease gene expression data for Sorsby Fundus Dystrophy.

Pathways for Sorsby Fundus Dystrophy

Pathways related to Sorsby Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 MMP13 MMP2 MMP3 TIMP1 TIMP2 TIMP3
2
Show member pathways
13.09 ELN FBN1 MMP13 MMP2 MMP3
3
Show member pathways
12.77 ELN FBN1 TIMP1 TIMP2 TIMP3
4
Show member pathways
12.46 ELN FBN1 MMP13 MMP2 MMP3 TIMP1
5
Show member pathways
11.99 MMP13 MMP3 TIMP1 TIMP3
6
Show member pathways
11.96 TIMP1 TIMP2 TIMP3
7
Show member pathways
11.91 ELN FBN1 MMP13 MMP2 MMP3
8
Show member pathways
11.78 TIMP1 TIMP2 TIMP3
9 11.78 MMP13 MMP2 MMP3
10 11.73 MMP2 MMP3 TIMP1
11
Show member pathways
11.63 MMP13 MMP2 MMP3 TIMP1 TIMP2 TIMP3
12 11.43 TIMP1 TIMP2 TIMP3
13 11.43 ELN MMP2 TIMP1
14 11.41 MMP13 TIMP3
15
Show member pathways
11.38 MMP2 MMP3
16 11.38 MMP13 MMP2 MMP3 TIMP1 TIMP2 TIMP3
17 11.09 ELN MMP3 TIMP2
18 10.93 TIMP1 TIMP2
19 10.9 TIMP2 TIMP3
20 10.89 MMP13 MMP2 MMP3 TIMP1 TIMP2 TIMP3
21 10.67 ELN FBN1 TIMP1 TIMP2 TIMP3

GO Terms for Sorsby Fundus Dystrophy

Cellular components related to Sorsby Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 FBN1 MMP13 MMP2 MMP3 TIMP1 TIMP2
2 extracellular region GO:0005576 9.76 ELN FBN1 MMP13 MMP2 MMP3 TIMP1
3 basement membrane GO:0005604 9.5 FBN1 TIMP1 TIMP3
4 collagen-containing extracellular matrix GO:0062023 9.35 ELN FBN1 MMP2 TIMP2 TIMP3
5 extracellular matrix GO:0031012 9.23 ELN FBN1 MMP13 MMP2 MMP3 TIMP1

Biological processes related to Sorsby Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.67 MMP2 MMP3 TIMP1
2 negative regulation of endopeptidase activity GO:0010951 9.65 TIMP1 TIMP2 TIMP3
3 negative regulation of peptidase activity GO:0010466 9.63 TIMP1 TIMP2 TIMP3
4 response to organic substance GO:0010033 9.61 TIMP1 TIMP2 TIMP3
5 response to cytokine GO:0034097 9.58 TIMP1 TIMP2 TIMP3
6 cellular protein metabolic process GO:0044267 9.56 FBN1 MMP13 MMP2 TIMP1
7 response to hormone GO:0009725 9.54 TIMP1 TIMP2 TIMP3
8 collagen catabolic process GO:0030574 9.33 MMP13 MMP2 MMP3
9 negative regulation of metallopeptidase activity GO:1905049 9.32 TIMP1 TIMP2
10 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.13 TIMP1 TIMP2 TIMP3
11 extracellular matrix disassembly GO:0022617 9.02 MMP13 MMP2 MMP3 TIMP1 TIMP2

Molecular functions related to Sorsby Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.65 MMP13 MMP2 MMP3 TIMP1 TIMP2
2 serine-type endopeptidase activity GO:0004252 9.63 MMP13 MMP2 MMP3
3 metallopeptidase activity GO:0008237 9.61 MMP13 MMP2 MMP3
4 peptidase inhibitor activity GO:0030414 9.58 TIMP1 TIMP2 TIMP3
5 metalloendopeptidase activity GO:0004222 9.54 MMP13 MMP2 MMP3
6 protease binding GO:0002020 9.5 TIMP1 TIMP2 TIMP3
7 extracellular matrix constituent conferring elasticity GO:0030023 9.16 ELN FBN1
8 enzyme inhibitor activity GO:0004857 9.13 TIMP1 TIMP2 TIMP3
9 metalloendopeptidase inhibitor activity GO:0008191 8.8 TIMP1 TIMP2 TIMP3

Sources for Sorsby Fundus Dystrophy

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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