MCID: SRS007
MIFTS: 48

Sorsby Fundus Dystrophy

Categories: Genetic diseases, Rare diseases, Eye 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 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
SNOMED-CT via HPO 69 263681008

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 and endothelial, and related phenotypes are macular dystrophy and cardiovascular system

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 93)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 25.2 ELN FBN1 MMP13 MMP2 MMP3 MMP9
2 pseudoinflammatory fundus dystrophy 10.8 SYN3 TIMP3
3 extracranial arteriovenous malformation 10.6 MMP2 MMP9
4 focal myositis 10.6 MMP2 MMP9
5 lentigo maligna melanoma 10.6 MMP2 MMP9
6 villous adenocarcinoma 10.6 MMP2 MMP9
7 psammomatous meningioma 10.6 MMP2 MMP9
8 acute transverse myelitis 10.6 MMP2 MMP9
9 internal hemorrhoid 10.6 MMP2 MMP9
10 sialadenitis 10.6 MMP2 TIMP3
11 ischemic colitis 10.6 MMP2 MMP9
12 parotitis 10.6 MMP2 MMP9
13 light chain deposition disease 10.6 MMP2 MMP9
14 klatskin's tumor 10.6 MMP2 MMP9
15 rheumatoid nodulosis 10.5 MMP3 MMP9
16 odontogenic myxoma 10.5 MMP2 MMP9
17 transverse myelitis 10.5 MMP2 MMP9
18 choroiditis 10.5
19 blepharochalasis 10.5 MMP3 MMP9
20 nodular malignant melanoma 10.4 MMP2 TIMP2
21 autoimmune inner ear disease 10.4 MMP9 TIMP1
22 adult astrocytic tumour 10.4 MMP3 MMP9
23 metaphyseal anadysplasia 10.4 MMP13 MMP9
24 chronic venous leg ulcers 10.4 MMP9 TIMP1
25 diabetic foot ulcers 10.4 MMP9 TIMP1
26 septic arthritis 10.4 MMP2 MMP3
27 tonsil squamous cell carcinoma 10.4 MMP13 TIMP2
28 hypertrophic scars 10.4 MMP2 TIMP1
29 cryptogenic organizing pneumonia 10.3 MMP9 TIMP1
30 diverticulitis 10.3 MMP13 MMP9
31 hypertensive heart disease 10.3 MMP2 MMP9
32 chronic venous insufficiency 10.2 MMP9 TIMP1
33 central nervous system tuberculosis 10.2 MMP9 TIMP1
34 joint disorders 10.1 MMP3 TIMP1
35 tendinosis 10.1 MMP3 TIMP1
36 spastic entropion 10.1 MMP2 MMP3 MMP9
37 corneal ulcer 10.1 MMP2 MMP3 MMP9
38 tongue cancer 10.1 MMP2 MMP9
39 venous insufficiency 10.1 MMP9 TIMP1
40 osteochondritis dissecans 10.1 MMP13 MMP3
41 gingival hypertrophy 10.1 MMP3 MMP9 TIMP2
42 endotheliitis 10.1
43 conjunctival nevus 10.0 MMP2 MMP9 TIMP1
44 oral submucous fibrosis 10.0 MMP2 TIMP1
45 coronary artery aneurysm 10.0 MMP13 MMP3
46 lung giant cell carcinoma 10.0 MMP2 MMP9 TIMP1
47 epidermolysis bullosa dystrophica 10.0 FBN1 MMP3
48 arteriovenous malformation 10.0 MMP3 MMP9
49 diabetes mellitus 10.0
50 refractive error 10.0 MMP2 TIMP1 TIMP2

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:
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
pigment dispersion with ocular hypertension or glaucoma
more

Clinical features from OMIM:

136900

Human phenotypes related to Sorsby Fundus Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 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 9.91 TIMP1 FBN1 TIMP2 MMP13 TIMP3 MMP2
2 hematopoietic system MP:0005397 9.87 TIMP1 FBN1 TIMP2 TIMP3 MMP2 MMP3
3 homeostasis/metabolism MP:0005376 9.86 TIMP1 FBN1 TIMP2 MMP13 TIMP3 MMP2
4 immune system MP:0005387 9.7 MMP9 TIMP1 FBN1 TIMP2 TIMP3 MMP2
5 respiratory system MP:0005388 9.35 MMP9 TIMP1 FBN1 TIMP3 MMP2
6 skeleton MP:0005390 9.17 SYN3 TIMP1 FBN1 MMP13 MMP2 MMP3

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

Publications for Sorsby Fundus Dystrophy

Articles related to Sorsby Fundus Dystrophy:

(show all 32)
# Title Authors Year
1
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. ( 28847738 )
2017
2
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. ( 28775088 )
2017
3
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. ( 27587748 )
2016
4
ALTERING THE CLINICAL COURSE OF SORSBY FUNDUS DYSTROPHY WITH THE USE OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INTRAOCULAR THERAPY. ( 25383845 )
2014
5
Ranibizumab for the management of Sorsby fundus dystrophy. ( 23099917 )
2013
6
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. ( 23023527 )
2013
7
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. ( 25390527 )
2013
8
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. ( 22183341 )
2012
9
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. ( 25390961 )
2012
10
Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. ( 25389882 )
2011
11
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
12
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. ( 19536307 )
2009
13
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. ( 18295466 )
2008
14
Clinical course and treatment outcomes of Sorsby fundus dystrophy. ( 18501328 )
2008
15
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). ( 17433023 )
2007
16
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. ( 18019015 )
2007
17
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
18
Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy. ( 17151501 )
2006
19
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. ( 16989765 )
2006
20
A novel TIMP3 mutation associated with Sorsby fundus dystrophy. ( 15824229 )
2005
21
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide. ( 15805922 )
2005
22
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. ( 14977790 )
2004
23
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. ( 15180253 )
2003
24
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. ( 14597066 )
2003
25
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. ( 12942551 )
2003
26
A mouse model for Sorsby fundus dystrophy. ( 12147610 )
2002
27
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. ( 11879143 )
2002
28
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. ( 10873973 )
2000
29
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. ( 8981947 )
1997
30
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. ( 9400791 )
1997
31
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. ( 8639088 )
1996
32
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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2
2
Show member pathways
13.16 ELN FBN1 MMP13 MMP2 MMP3 MMP9
3
Show member pathways
12.85 ELN FBN1 TIMP1 TIMP2 TIMP3
4
Show member pathways
12.6 ELN MMP13 MMP3 MMP9
5
Show member pathways
12.51 ELN FBN1 MMP13 MMP2 MMP3 MMP9
6
Show member pathways
12.11 MMP13 MMP3 MMP9
7 12.08 MMP2 MMP9 TIMP3
8
Show member pathways
12.05 MMP13 MMP3 TIMP1 TIMP3
9 11.87 MMP13 MMP2 MMP3 MMP9
10 11.76 MMP2 MMP3 MMP9 TIMP1
11
Show member pathways
11.7 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2
12 11.53 MMP13 MMP2 MMP9
13 11.51 MMP13 MMP9 TIMP3
14
Show member pathways
11.49 MMP2 MMP3 MMP9
15 11.47 ELN MMP2 MMP9 TIMP1
16 11.45 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2
17 11.31 MMP2 MMP9
18
Show member pathways
11.28 MMP2 MMP9
19 11.21 ELN MMP3 MMP9 TIMP2
20 11.15 MMP2 MMP9
21 11.12 MMP2 MMP9
22 11.03 MMP9 TIMP1 TIMP2
23 11.01 MMP2 MMP9
24 10.99 MMP9 TIMP2 TIMP3
25 10.95 MMP2 MMP9
26 10.95 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2

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 9.76 FBN1 MMP13 MMP2 MMP3 MMP9 TIMP1
2 extracellular region GO:0005576 9.61 ELN FBN1 MMP13 MMP2 MMP3 MMP9
3 basement membrane GO:0005604 9.43 FBN1 TIMP1 TIMP3
4 extracellular matrix GO:0031012 9.28 ELN FBN1 MMP13 MMP2 MMP3 MMP9

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.86 MMP13 MMP2 MMP3 MMP9
2 cytokine-mediated signaling pathway GO:0019221 9.73 MMP2 MMP3 MMP9 TIMP1
3 extracellular matrix organization GO:0030198 9.7 ELN FBN1 MMP9
4 negative regulation of endopeptidase activity GO:0010951 9.67 TIMP1 TIMP2 TIMP3
5 negative regulation of peptidase activity GO:0010466 9.65 TIMP1 TIMP2 TIMP3
6 response to organic substance GO:0010033 9.63 TIMP1 TIMP2 TIMP3
7 cellular protein metabolic process GO:0044267 9.62 FBN1 MMP13 MMP2 TIMP1
8 response to cytokine GO:0034097 9.58 TIMP1 TIMP2 TIMP3
9 embryo implantation GO:0007566 9.55 MMP2 MMP9
10 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.54 MMP2 MMP9
11 response to hormone GO:0009725 9.54 TIMP1 TIMP2 TIMP3
12 endodermal cell differentiation GO:0035987 9.51 MMP2 MMP9
13 collagen catabolic process GO:0030574 9.46 MMP13 MMP2 MMP3 MMP9
14 negative regulation of metallopeptidase activity GO:1905049 9.26 TIMP1 TIMP2
15 extracellular matrix disassembly GO:0022617 9.23 ELN FBN1 MMP13 MMP2 MMP3 MMP9
16 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.13 TIMP1 TIMP2 TIMP3

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.76 MMP13 MMP2 MMP3 MMP9
2 serine-type endopeptidase activity GO:0004252 9.67 MMP13 MMP2 MMP3 MMP9
3 zinc ion binding GO:0008270 9.63 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2
4 peptidase inhibitor activity GO:0030414 9.61 TIMP1 TIMP2 TIMP3
5 protease binding GO:0002020 9.58 TIMP1 TIMP2 TIMP3
6 metallopeptidase activity GO:0008237 9.56 MMP13 MMP2 MMP3 MMP9
7 enzyme inhibitor activity GO:0004857 9.5 TIMP1 TIMP2 TIMP3
8 metalloendopeptidase activity GO:0004222 9.26 MMP13 MMP2 MMP3 MMP9
9 metalloendopeptidase inhibitor activity GO:0008191 8.8 TIMP1 TIMP2 TIMP3
10 metal ion binding GO:0046872 10.02 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2

Sources for Sorsby Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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