SFD
MCID: SRS007
MIFTS: 51

Sorsby Fundus Dystrophy (SFD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sorsby Fundus Dystrophy

MalaCards integrated aliases for Sorsby Fundus Dystrophy:

Name: Sorsby Fundus Dystrophy 56 73 36 29 13 6 39
Fundus Dystrophy, Pseudoinflammatory, of Sorsby 56 52 73 71
Sfd 56 12 52 73
Macular Dystrophy, Hemorrhagic 56 52 73
Sorsby's Fundus Dystrophy 12 15 71
Pseudoinflammatory Fundus Dystrophy of Sorsby 12
Sorsby's Pseudoinflammatory Macular Dystrophy 52
Sorsby Pseudoinflammatory Fundus Dystrophy 58
Hemorrhagic Macular Dystrophy 12

Characteristics:

Orphanet epidemiological data:

58
sorsby pseudoinflammatory fundus dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
sorsby fundus dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0090114
OMIM 56 136900
KEGG 36 H00732
MeSH 43 D008268
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339515
Orphanet 58 ORPHA59181
MedGen 41 C1850938
UMLS 71 C0339515 C1850938

Summaries for Sorsby Fundus Dystrophy

KEGG : 36 Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease.

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

Disease Ontology : 12 A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has material basis in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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.

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 159)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy, pseudoinflammatory, recessive form 31.3 TIMP3 SYN3
2 angioid streaks 31.0 ELN CFHR2 ARMS2
3 retinal disease 30.3 TIMP3 CRYAA CFHR2 ARMS2
4 macular degeneration, age-related, 1 30.2 TIMP3 MMP9 MMP2 FGF2 ELN CRYAA
5 eye disease 29.3 MMP9 MMP2 FGF2 FBN1 DCAF8 CRYAA
6 retinitis pigmentosa 29.3 TIMP3 TIMP1 NAT9 FGF2 DCAF8 CRYAA
7 fundus dystrophy 28.3 TYW1B TIMP3 TIMP2 TIMP1 SYN3 NAT9
8 yemenite deaf-blind hypopigmentation syndrome 10.6
9 extracranial arteriovenous malformation 10.6 MMP9 MMP2
10 rheumatoid nodulosis 10.5 MMP9 MMP3
11 focal myositis 10.5 MMP9 MMP2
12 autoimmune inner ear disease 10.5 TIMP1 MMP9
13 prolapse of lacrimal gland 10.5 MMP9 MMP3
14 lentigo maligna melanoma 10.5 MMP9 MMP2
15 late-onset focal dermal elastosis 10.5 FBN1 ELN
16 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 FBN1 ELN
17 acute transverse myelitis 10.5 MMP9 MMP2
18 transverse myelitis 10.5 MMP9 MMP2
19 cerebral aneurysms 10.5 MMP2 ELN
20 posttransplant acute limbic encephalitis 10.5
21 nasal cavity squamous cell carcinoma 10.5 MMP9 MMP2
22 familial abdominal aortic aneurysm 10.5 FBN1 ELN
23 light chain deposition disease 10.5 MMP9 MMP2
24 spastic entropion 10.4 MMP9 MMP3 MMP2
25 fungal keratitis 10.4 TIMP2 TIMP1 MMP9
26 metaphyseal anadysplasia 10.4 MMP9 MMP13
27 ureteric orifice cancer 10.4 FBN1 ELN
28 lung giant cell carcinoma 10.4 TIMP1 MMP9 MMP2
29 senile ectropion 10.4 MMP9 MMP2 ELN
30 night blindness 10.4
31 gingival hypertrophy 10.4 TIMP2 MMP9 MMP3
32 corneal ulcer 10.4 MMP9 MMP3 MMP2
33 mid-dermal elastolysis 10.4 TIMP1 FBN1 ELN
34 neuroretinitis 10.4
35 retinitis 10.4
36 systolic heart failure 10.4 TIMP1 MMP9 MMP2
37 chronic venous insufficiency 10.4 TIMP2 TIMP1 MMP9
38 adenomyosis 10.4 TIMP2 MMP9 MMP2
39 periapical periodontitis 10.4 MMP9 MMP2 MMP13
40 chronic actinic dermatitis 10.4 MMP9 FBN1 ELN
41 odontogenic myxoma 10.4 MMP9 MMP2
42 bone deterioration disease 10.4 TIMP1 MMP3 MMP13
43 appendicitis 10.4 TIMP1 MMP9 MMP3
44 actinic keratosis 10.4 MMP9 MMP3 MMP2
45 carotid artery disease 10.4 TIMP1 MMP9 MMP3
46 exfoliation syndrome 10.3 MMP3 FBN1 ELN
47 phacogenic glaucoma 10.3 FBN1 ELN CRYAA
48 bone structure disease 10.3 MMP3 MMP13 FBN1
49 takayasu arteritis 10.3 MMP9 MMP3 MMP2
50 arteriovenous malformation 10.3 TIMP3 MMP9 MMP3 MMP2

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



Diseases related to Sorsby Fundus Dystrophy

Symptoms & Phenotypes for Sorsby Fundus Dystrophy

Human phenotypes related to Sorsby Fundus Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 abnormal electroretinogram 31 HP:0000512
3 glaucoma 31 HP:0000501
4 macular dystrophy 31 HP:0007754

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Sorsby Fundus Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 BMP4 DCAF8 FBN1 FGF2 MMP13 MMP2
2 hematopoietic system MP:0005397 9.7 ATP6V1H BMP4 DCAF8 FBN1 FGF2 MMP2
3 skeleton MP:0005390 9.32 ATP6V1H BMP4 FBN1 FGF2 MMP13 MMP2

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:

40
Eye, Retina, Lung, Brain, Kidney, Testes, Endothelial

Publications for Sorsby Fundus Dystrophy

Articles related to Sorsby Fundus Dystrophy:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 61 56 6
8981947 1997
2
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. 56 6
10854443 2000
3
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. 6 56
8919688 1996
4
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 56 6
7894485 1994
5
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. 6 56
7148944 1982
6
Reticular Pseudodrusen in Sorsby Fundus Dystrophy. 61 56
26077580 2015
7
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. 56 61
25766588 2015
8
Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. 61 56
10636420 2000
9
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. 61 6
8639088 1996
10
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. 56
16223891 2005
11
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. 6
8634721 1995
12
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 56
7550309 1995
13
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. 56
7920634 1994
14
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. 56
1559761 1992
15
Sorsby's fundus dystrophy. A light and electron microscopic study. 56
2482957 1989
16
Sorsby's fundus dystrophy. A clinical study. 56
2622621 1989
17
Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies. 56
2457521 1988
18
Sorsby's pseudoinflammatory macular dystrophy. 56
7317334 1981
19
Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. 56
1085369 1976
20
Classification of the choroidal atrophies. 56
5315093 1971
21
Sorsby's familial pseudo-inflammatory macular dystrophy. 56
5314577 1971
22
Familial, central, areolar, choroidal atrophy of autosomal dominant inheritance. 56
13410569 1955
23
A fundus dystrophy with unusual features. 56
18111349 1949
24
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2020
25
Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. 61
32143276 2020
26
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. 61
30421618 2020
27
Sorsby fundus dystrophy with polypoidal choroidal vasculopathy: Extending TIMP3 phenotypes. 61
31369189 2019
28
The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain. 61
31877820 2019
29
LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT. 61
31764885 2019
30
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism. 61
31757977 2019
31
Late-Stage Sorsby Fundus Dystrophy Manifesting Severe Vision Loss in the Absence of Choroidal Neovascularization. 61
31415707 2019
32
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. 61
30668888 2019
33
Sorsby fundus dystrophy: Insights from the past and looking to the future. 61
30129971 2019
34
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME. 61
29979251 2018
35
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. 61
28847738 2017
36
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. 61
28775088 2017
37
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. 61
27587748 2016
38
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene. 61
27601084 2016
39
Altering the clinical course of Sorsby fundus dystrophy with the use of anti-vascular endothelial growth factor intraocular therapy. 61
25383845 2015
40
Role of Protease-Inhibitors in Ocular Diseases. 61
25493637 2014
41
Clinical characteristics and current therapies for inherited retinal degenerations. 61
25324231 2014
42
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
43
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. 61
23023527 2013
44
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. 61
25390527 2013
45
Ranibizumab for the management of Sorsby fundus dystrophy. 61
23099917 2013
46
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. 61
25390961 2012
47
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. 61
22183341 2012
48
Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. 61
25389882 2011
49
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). 61
20206286 2010
50
S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis. 61
19478078 2009

Variations for Sorsby Fundus Dystrophy

ClinVar genetic disease variations for Sorsby Fundus Dystrophy:

6 (show top 50) (show all 110) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIMP3 NM_003490.4(SYN3):c.711+5564T>ASNV Pathogenic 12676 rs137853298 22:33255338-33255338 22:32859351-32859351
2 TIMP3 NM_003490.4(SYN3):c.711+5602T>CSNV Pathogenic 12677 rs137853299 22:33255300-33255300 22:32859313-32859313
3 TIMP3 NM_003490.4(SYN3):c.711+5638G>CSNV Pathogenic 12678 rs137853300 22:33255264-33255264 22:32859277-32859277
4 TIMP3 NM_003490.4(SYN3):c.711+5609C>ASNV Pathogenic 12679 rs137853301 22:33255293-33255293 22:32859306-32859306
5 TIMP3 NM_003490.4(SYN3):c.711+5690C>ASNV Pathogenic 12680 rs137853302 22:33255212-33255212 22:32859225-32859225
6 TIMP3 NM_003490.4(SYN3):c.711+6894G>ASNV Conflicting interpretations of pathogenicity 289421 rs145553035 22:33254008-33254008 22:32858021-32858021
7 TIMP3 NM_003490.4(SYN3):c.711+5658G>ASNV Conflicting interpretations of pathogenicity 341347 rs149161075 22:33255244-33255244 22:32859257-32859257
8 TIMP3 NM_003490.4(SYN3):c.711+5587C>TSNV Conflicting interpretations of pathogenicity 341348 rs142288050 22:33255315-33255315 22:32859328-32859328
9 TIMP3 NM_003490.4(SYN3):c.711+5032C>TSNV Uncertain significance 341352 rs200570563 22:33255870-33255870 22:32859883-32859883
10 TIMP3 NM_003490.4(SYN3):c.711+4743T>CSNV Uncertain significance 341357 rs886057438 22:33256159-33256159 22:32860172-32860172
11 TIMP3 NM_003490.4(SYN3):c.711+4608A>GSNV Uncertain significance 341358 rs190547323 22:33256294-33256294 22:32860307-32860307
12 TIMP3 NM_003490.4(SYN3):c.711+4548C>TSNV Uncertain significance 341359 rs886057439 22:33256354-33256354 22:32860367-32860367
13 TIMP3 NM_003490.4(SYN3):c.711+3224G>ASNV Uncertain significance 341386 rs886057449 22:33257678-33257678 22:32861691-32861691
14 TIMP3 NM_003490.4(SYN3):c.711+5433G>TSNV Uncertain significance 341350 rs577017044 22:33255469-33255469 22:32859482-32859482
15 TIMP3 NM_003490.4(SYN3):c.711+2721A>GSNV Uncertain significance 341395 rs769981298 22:33258181-33258181 22:32862194-32862194
16 TIMP3 NM_003490.4(SYN3):c.711+2694G>ASNV Uncertain significance 341397 rs886057450 22:33258208-33258208 22:32862221-32862221
17 TIMP3 NM_003490.4(SYN3):c.711+2411A>GSNV Uncertain significance 341403 rs765621470 22:33258491-33258491 22:32862504-32862504
18 TIMP3 NM_003490.4(SYN3):c.711+64084C>TSNV Uncertain significance 341325 rs886057424 22:33196817-33196817 22:32800831-32800831
19 TIMP3 NM_003490.4(SYN3):c.711+64049C>GSNV Uncertain significance 341326 rs186649312 22:33196852-33196852 22:32800866-32800866
20 TIMP3 NM_003490.4(SYN3):c.711+63243G>ASNV Uncertain significance 341337 rs886057430 22:33197658-33197658 22:32801672-32801672
21 TIMP3 NM_003490.4(SYN3):c.711+5451A>GSNV Uncertain significance 341349 rs886057434 22:33255451-33255451 22:32859464-32859464
22 TIMP3 NM_003490.4(SYN3):c.711+4997A>TSNV Uncertain significance 341355 rs886057437 22:33255905-33255905 22:32859918-32859918
23 TIMP3 NM_003490.4(SYN3):c.711+4359A>GSNV Uncertain significance 341360 rs536794682 22:33256543-33256543 22:32860556-32860556
24 TIMP3 NM_003490.4(SYN3):c.711+3857A>GSNV Uncertain significance 341368 rs760355269 22:33257045-33257045 22:32861058-32861058
25 TIMP3 NM_003490.4(SYN3):c.711+63673C>TSNV Uncertain significance 903602 22:33197228-33197228 22:32801242-32801242
26 TIMP3 NM_003490.4(SYN3):c.711+63470T>GSNV Uncertain significance 903603 22:33197431-33197431 22:32801445-32801445
27 TIMP3 NM_003490.4(SYN3):c.711+63401G>ASNV Uncertain significance 903604 22:33197500-33197500 22:32801514-32801514
28 TIMP3 NM_000362.5(TIMP3):c.-284G>CSNV Uncertain significance 900005 22:33197704-33197704 22:32801718-32801718
29 TIMP3 NM_000362.5(TIMP3):c.-274G>CSNV Uncertain significance 900006 22:33197714-33197714 22:32801728-32801728
30 TIMP3 NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu)SNV Uncertain significance 901169 22:33245488-33245488 22:32849501-32849501
31 TIMP3 NM_000362.5(TIMP3):c.*232T>CSNV Uncertain significance 901720 22:33255596-33255596 22:32859609-32859609
32 TIMP3 NM_000362.5(TIMP3):c.*320G>TSNV Uncertain significance 901721 22:33255684-33255684 22:32859697-32859697
33 TIMP3 NM_000362.5(TIMP3):c.*541T>CSNV Uncertain significance 902629 22:33255905-33255905 22:32859918-32859918
34 TIMP3 NM_000362.5(TIMP3):c.*690C>GSNV Uncertain significance 902630 22:33256054-33256054 22:32860067-32860067
35 TIMP3 NM_000362.5(TIMP3):c.*854G>ASNV Uncertain significance 900074 22:33256218-33256218 22:32860231-32860231
36 TIMP3 NM_000362.5(TIMP3):c.*1115C>TSNV Uncertain significance 900075 22:33256479-33256479 22:32860492-32860492
37 TIMP3 NM_000362.5(TIMP3):c.*1188C>TSNV Uncertain significance 900076 22:33256552-33256552 22:32860565-32860565
38 TIMP3 NM_000362.5(TIMP3):c.*1504G>ASNV Uncertain significance 901237 22:33256868-33256868 22:32860881-32860881
39 TIMP3 NM_000362.5(TIMP3):c.*1802A>GSNV Uncertain significance 901238 22:33257166-33257166 22:32861179-32861179
40 TIMP3 NM_000362.5(TIMP3):c.*1841C>ASNV Uncertain significance 901779 22:33257205-33257205 22:32861218-32861218
41 TIMP3 NM_000362.5(TIMP3):c.*1929A>GSNV Uncertain significance 901780 22:33257293-33257293 22:32861306-32861306
42 TIMP3 NM_000362.5(TIMP3):c.*1935G>ASNV Uncertain significance 901781 22:33257299-33257299 22:32861312-32861312
43 TIMP3 NM_000362.5(TIMP3):c.*1957A>GSNV Uncertain significance 901782 22:33257321-33257321 22:32861334-32861334
44 TIMP3 NM_000362.5(TIMP3):c.*2014C>ASNV Uncertain significance 901783 22:33257378-33257378 22:32861391-32861391
45 TIMP3 NM_000362.5(TIMP3):c.*2152G>TSNV Uncertain significance 902690 22:33257516-33257516 22:32861529-32861529
46 TIMP3 NM_000362.5(TIMP3):c.*2424G>ASNV Uncertain significance 900141 22:33257788-33257788 22:32861801-32861801
47 TIMP3 NM_000362.5(TIMP3):c.*2698A>GSNV Uncertain significance 901300 22:33258062-33258062 22:32862075-32862075
48 TIMP3 NM_000362.5(TIMP3):c.*2763C>TSNV Uncertain significance 901301 22:33258127-33258127 22:32862140-32862140
49 TIMP3 NM_000362.5(TIMP3):c.*2943C>TSNV Uncertain significance 901302 22:33258307-33258307 22:32862320-32862320
50 TIMP3 NM_000362.5(TIMP3):c.*3221A>GSNV Uncertain significance 901849 22:33258585-33258585 22:32862598-32862598

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

73
# 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

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
2
Show member pathways
12.95 TIMP3 TIMP2 TIMP1 FGF2 FBN1 ELN
3
Show member pathways
12.59 TIMP3 TIMP2 TIMP1 FGF2 BMP4
4
Show member pathways
12.51 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP13
5
Show member pathways
12.31 TIMP3 TIMP2 TIMP1 FGF2 BMP4
6 12.2 TIMP3 MMP9 MMP2 FGF2
7
Show member pathways
12.19 TIMP3 TIMP1 MMP3 MMP13
8
Show member pathways
12.16 TIMP3 TIMP2 TIMP1 FGF2 BMP4
9 11.91 MMP9 MMP3 MMP2 MMP13
10 11.86 TIMP1 MMP9 MMP3 MMP2 FGF2
11
Show member pathways
11.8 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
12
Show member pathways
11.64 FBN1 ELN BMP4
13 11.62 TIMP3 TIMP2 TIMP1 FGF2 BMP4
14 11.59 MMP9 MMP2 MMP13
15 11.59 TIMP3 MMP9 MMP13 FGF2
16
Show member pathways
11.56 MMP9 MMP3 MMP2
17 11.52 TIMP1 MMP9 MMP2 FGF2 ELN
18 11.32 TIMP2 MMP9 MMP3 ELN
19 11.29 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
20 11.17 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
21 11.07 TIMP2 TIMP1 MMP9
22 11.05 TIMP3 TIMP2 MMP9 FGF2
23 10.9 TIMP3 TIMP2 TIMP1 FGF2 FBN1 ELN

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 9.96 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
2 extracellular region GO:0005576 9.73 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2
3 collagen-containing extracellular matrix GO:0062023 9.63 TIMP3 TIMP2 MMP9 MMP2 FBN1 ELN
4 basement membrane GO:0005604 9.5 TIMP3 TIMP1 FBN1
5 extracellular matrix GO:0031012 9.28 TIMP3 TIMP2 TIMP1 MMP9 MMP3 MMP2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.8 TIMP1 MMP9 MMP3 MMP2 FGF2
2 cellular protein metabolic process GO:0044267 9.77 TIMP1 MMP2 MMP13 FBN1 BMP4
3 response to organic substance GO:0010033 9.73 TIMP3 TIMP2 TIMP1
4 cartilage development GO:0051216 9.71 TIMP1 MMP13 BMP4
5 extracellular matrix organization GO:0030198 9.7 MMP9 MMP3 MMP2 MMP13 FGF2 FBN1
6 response to cytokine GO:0034097 9.67 TIMP3 TIMP2 TIMP1
7 response to hormone GO:0009725 9.65 TIMP3 TIMP2 TIMP1
8 collagen catabolic process GO:0030574 9.62 MMP9 MMP3 MMP2 MMP13
9 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.61 MMP9 MMP2 FGF2
10 regulation of neuroinflammatory response GO:0150077 9.55 MMP9 MMP3
11 regulation of smooth muscle cell proliferation GO:0048660 9.52 ELN BMP4
12 negative regulation of metallopeptidase activity GO:1905049 9.51 TIMP2 TIMP1
13 wybutosine biosynthetic process GO:0031591 9.46 TYW1B TYW1
14 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.43 TIMP3 TIMP2 TIMP1
15 response to amyloid-beta GO:1904645 9.26 MMP9 MMP3 MMP2 MMP13
16 extracellular matrix disassembly GO:0022617 9.1 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP13

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 9.91 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP13
2 metallopeptidase activity GO:0008237 9.67 MMP9 MMP3 MMP2 MMP13
3 protease binding GO:0002020 9.65 TIMP3 TIMP2 TIMP1
4 metalloendopeptidase activity GO:0004222 9.56 MMP9 MMP3 MMP2 MMP13
5 enzyme inhibitor activity GO:0004857 9.5 TIMP3 TIMP2 TIMP1
6 FMN binding GO:0010181 9.46 TYW1B TYW1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN1 ELN
8 endopeptidase activity GO:0004175 9.26 MMP9 MMP3 MMP2 MMP13
9 tRNA-4-demethylwyosine synthase activity GO:0102521 9.16 TYW1B TYW1
10 metalloendopeptidase inhibitor activity GO:0008191 8.8 TIMP3 TIMP2 TIMP1

Sources for Sorsby Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....