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 57 72 36 29 13 6
Fundus Dystrophy, Pseudoinflammatory, of Sorsby 57 20 72 70
Sfd 57 12 20 72
Macular Dystrophy, Hemorrhagic 57 20 72
Sorsby's Fundus Dystrophy 12 15 70
Pseudoinflammatory Fundus Dystrophy of Sorsby 12
Sorsby's Pseudoinflammatory Macular Dystrophy 20
Sorsby Pseudoinflammatory Fundus Dystrophy 58
Hemorrhagic Macular Dystrophy 12
Dystrophy, Fundus, Sorsby 39

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 136900
KEGG 36 H00732
MeSH 44 D008268
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0339515
Orphanet 58 ORPHA59181
MedGen 41 C1850938
UMLS 70 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 angioid streaks and macular degeneration, age-related, 1. An important gene associated with Sorsby Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta 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® : 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 118)
# Related Disease Score Top Affiliating Genes
1 angioid streaks 31.0 VEGFA CFHR2 ARMS2
2 macular degeneration, age-related, 1 31.0 VEGFA TIMP3 RHO MMP2 FGF2 CRYAA
3 fundus dystrophy, pseudoinflammatory, recessive form 31.0 TIMP3 SYN3
4 vitelliform macular dystrophy 30.7 TIMP3 RHO ARMS2
5 fundus dystrophy 30.7 VEGFA TYW1B TIMP4 TIMP3 TIMP2 TIMP1
6 retinal disease 30.6 TIMP3 RHO CRYAA ARMS2
7 retinal degeneration 30.5 TIMP3 RHO FGF2 CRYAA CFHR2
8 ocular hypertension 30.4 RHO CXCL12 CRYAA
9 eye disease 30.3 VEGFA RHO MMP2 FGF2 CRYAA CFHR2
10 retinitis pigmentosa 30.2 VEGFA TIMP3 TIMP1 RHO FGF2 CRYAA
11 yemenite deaf-blind hypopigmentation syndrome 10.5
12 lentigo maligna melanoma 10.4 TIMP1 MMP2
13 fungal keratitis 10.4 TIMP2 TIMP1
14 retinal drusen 10.4 TIMP3 CFHR2 ARMS2
15 patterned macular dystrophy 10.4 VEGFA RHO
16 bullous retinoschisis 10.4 VEGFA ARMS2
17 conjunctivochalasis 10.4 TIMP2 TIMP1 MMP2
18 lung giant cell carcinoma 10.4 VEGFA TIMP1 MMP2
19 spinal stenosis 10.4 TIMP2 TIMP1 MMP2
20 ulcer of lower limbs 10.4 VEGFA FGF2
21 decubitus ulcer 10.4 VEGFA TIMP1 FGF2
22 arteriovenous malformations of the brain 10.4 VEGFA TIMP3 SYN3
23 radiation proctitis 10.4 VEGFA FGF2
24 oral submucous fibrosis 10.4 VEGFA TIMP1 MMP2
25 diabetic cataract 10.4 VEGFA MMP2 CRYAA
26 blood group, globoside system 10.4 VEGFA FGF2 CRYAA
27 preterm premature rupture of the membranes 10.4 TIMP2 TIMP1 MMP2
28 neovascular glaucoma 10.4 VEGFA FGF2 CRYAA
29 pneumothorax 10.4 TIMP2 TIMP1 MMP2
30 lipodermatosclerosis 10.4 VEGFA TIMP2
31 hypertensive heart disease 10.3 TIMP2 MMP2 FGF2
32 gingival fibromatosis 10.3 TIMP2 TIMP1 MMP2
33 macular dystrophy, dominant cystoid 10.3 VEGFA RHO CRYAA
34 chronic venous insufficiency 10.3 VEGFA TIMP2 TIMP1
35 aortic aneurysm, familial thoracic 1 10.3 TIMP2 TIMP1 MMP2
36 odontogenic myxoma 10.3 VEGFA MMP2
37 posttransplant acute limbic encephalitis 10.3
38 adenomyosis 10.3 VEGFA TIMP2 MMP2
39 chronic ulcer of skin 10.3 VEGFA TIMP2 FGF2
40 doyne honeycomb retinal dystrophy 10.3 TIMP3 CRYAA CFHR2 ARMS2
41 ocular hyperemia 10.3 CHST5 ARMS2
42 chorioretinal scar 10.3 VEGFA RHO
43 colon adenoma 10.3 VEGFA MMP2 FGF2
44 aortic aneurysm, familial abdominal, 1 10.3 TIMP3 TIMP2 TIMP1 MMP2
45 cancer-associated retinopathy 10.3 VEGFA RHO
46 retinal ischemia 10.3 VEGFA CXCL12 CRYAA
47 corneal disease 10.3 VEGFA FGF2 CRYAA
48 night blindness 10.3
49 kuhnt-junius degeneration 10.3 VEGFA CRYAA CFHR2 ARMS2
50 neuroretinitis 10.3

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Sorsby Fundus Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ATP6V1H BMP4 CXCL12 FGF2 MMP2 RHO
2 vision/eye MP:0005391 9.28 ATP6V1H BMP4 FGF2 MMP2 RHO TIMP3

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, Endothelial

Publications for Sorsby Fundus Dystrophy

Articles related to Sorsby Fundus Dystrophy:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 57 61 6
8981947 1997
2
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. 6 57
10854443 2000
3
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. 57 6
8919688 1996
4
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 57 6
7894485 1994
5
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. 57 6
7148944 1982
6
Reticular Pseudodrusen in Sorsby Fundus Dystrophy. 57 61
26077580 2015
7
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. 57 61
25766588 2015
8
Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. 61 57
10636420 2000
9
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. 6 61
8639088 1996
10
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. 57
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. 57
7550309 1995
13
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. 57
7920634 1994
14
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. 57
1559761 1992
15
Sorsby's fundus dystrophy. A clinical study. 57
2622621 1989
16
Sorsby's fundus dystrophy. A light and electron microscopic study. 57
2482957 1989
17
Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies. 57
2457521 1988
18
Sorsby's pseudoinflammatory macular dystrophy. 57
7317334 1981
19
Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. 57
1085369 1976
20
Classification of the choroidal atrophies. 57
5315093 1971
21
Sorsby's familial pseudo-inflammatory macular dystrophy. 57
5314577 1971
22
Familial, central, areolar, choroidal atrophy of autosomal dominant inheritance. 57
13410569 1955
23
A fundus dystrophy with unusual features. 57
18111349 1949
24
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME. 61
29979251 2021
25
The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration. 61
32828705 2020
26
In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy. 61
32666594 2020
27
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype. 61
32715858 2020
28
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration. 61
32821523 2020
29
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2020
30
Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. 61
32143276 2020
31
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. 61
30421618 2020
32
The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain. 61
31877820 2019
33
Sorsby fundus dystrophy with polypoidal choroidal vasculopathy: Extending TIMP3 phenotypes. 61
31369189 2019
34
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism. 61
31757977 2019
35
LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT. 61
31764885 2019
36
Late-Stage Sorsby Fundus Dystrophy Manifesting Severe Vision Loss in the Absence of Choroidal Neovascularization. 61
31415707 2019
37
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. 61
30668888 2019
38
Sorsby fundus dystrophy: Insights from the past and looking to the future. 61
30129971 2019
39
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. 61
28847738 2017
40
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. 61
28775088 2017
41
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. 61
27587748 2016
42
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene. 61
27601084 2016
43
Altering the clinical course of Sorsby fundus dystrophy with the use of anti-vascular endothelial growth factor intraocular therapy. 61
25383845 2015
44
Role of Protease-Inhibitors in Ocular Diseases. 61
25493637 2014
45
Clinical characteristics and current therapies for inherited retinal degenerations. 61
25324231 2014
46
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
47
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. 61
23023527 2013
48
Ranibizumab for the management of Sorsby fundus dystrophy. 61
23099917 2013
49
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. 61
25390527 2013
50
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. 61
25390961 2012

Variations for Sorsby Fundus Dystrophy

ClinVar genetic disease variations for Sorsby Fundus Dystrophy:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5564T>A SNV Pathogenic 12676 rs137853298 GRCh37: 22:33255338-33255338
GRCh38: 22:32859351-32859351
2 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5602T>C SNV Pathogenic 12677 rs137853299 GRCh37: 22:33255300-33255300
GRCh38: 22:32859313-32859313
3 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5638G>C SNV Pathogenic 12678 rs137853300 GRCh37: 22:33255264-33255264
GRCh38: 22:32859277-32859277
4 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5609C>A SNV Pathogenic 12679 rs137853301 GRCh37: 22:33255293-33255293
GRCh38: 22:32859306-32859306
5 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5690C>A SNV Pathogenic 12680 rs137853302 GRCh37: 22:33255212-33255212
GRCh38: 22:32859225-32859225
6 TIMP3 , SYN3 NM_000362.5(TIMP3):c.94C>T (p.Gln32Ter) SNV Pathogenic 1029801 GRCh37: 22:33198081-33198081
GRCh38: 22:32802095-32802095
7 TIMP3 , SYN3 NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu) SNV Uncertain significance 901169 GRCh37: 22:33245488-33245488
GRCh38: 22:32849501-32849501
8 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+4000_711+4001del Deletion Uncertain significance 341366 rs766674644 GRCh37: 22:33256901-33256902
GRCh38: 22:32860914-32860915
9 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+3726dup Duplication Uncertain significance 341374 rs397690270 GRCh37: 22:33257163-33257164
GRCh38: 22:32861176-32861177
10 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+4002del Deletion Uncertain significance 341364 rs886057441 GRCh37: 22:33256900-33256900
GRCh38: 22:32860913-32860913
11 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+3838_711+3841del Deletion Uncertain significance 341369 rs550747276 GRCh37: 22:33257061-33257064
GRCh38: 22:32861074-32861077
12 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*232T>C SNV Uncertain significance 901720 GRCh37: 22:33255596-33255596
GRCh38: 22:32859609-32859609
13 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*320G>T SNV Uncertain significance 901721 GRCh37: 22:33255684-33255684
GRCh38: 22:32859697-32859697
14 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1841C>A SNV Uncertain significance 901779 GRCh37: 22:33257205-33257205
GRCh38: 22:32861218-32861218
15 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1929A>G SNV Uncertain significance 901780 GRCh37: 22:33257293-33257293
GRCh38: 22:32861306-32861306
16 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1935G>A SNV Uncertain significance 901781 GRCh37: 22:33257299-33257299
GRCh38: 22:32861312-32861312
17 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1957A>G SNV Uncertain significance 901782 GRCh37: 22:33257321-33257321
GRCh38: 22:32861334-32861334
18 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2014C>A SNV Uncertain significance 901783 GRCh37: 22:33257378-33257378
GRCh38: 22:32861391-32861391
19 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*3221A>G SNV Uncertain significance 901849 GRCh37: 22:33258585-33258585
GRCh38: 22:32862598-32862598
20 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*3246G>A SNV Uncertain significance 901850 GRCh37: 22:33258610-33258610
GRCh38: 22:32862623-32862623
21 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*541T>C SNV Uncertain significance 902629 GRCh37: 22:33255905-33255905
GRCh38: 22:32859918-32859918
22 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*690C>G SNV Uncertain significance 902630 GRCh37: 22:33256054-33256054
GRCh38: 22:32860067-32860067
23 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2152G>T SNV Uncertain significance 902690 GRCh37: 22:33257516-33257516
GRCh38: 22:32861529-32861529
24 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*3521C>T SNV Uncertain significance 902759 GRCh37: 22:33258885-33258885
GRCh38: 22:32862898-32862898
25 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+63673C>T SNV Uncertain significance 903602 GRCh37: 22:33197228-33197228
GRCh38: 22:32801242-32801242
26 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+63470T>G SNV Uncertain significance 903603 GRCh37: 22:33197431-33197431
GRCh38: 22:32801445-32801445
27 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+63401G>A SNV Uncertain significance 903604 GRCh37: 22:33197500-33197500
GRCh38: 22:32801514-32801514
28 TIMP3 , SYN3 NM_000362.5(TIMP3):c.-284G>C SNV Uncertain significance 900005 GRCh37: 22:33197704-33197704
GRCh38: 22:32801718-32801718
29 TIMP3 , SYN3 NM_000362.5(TIMP3):c.-274G>C SNV Uncertain significance 900006 GRCh37: 22:33197714-33197714
GRCh38: 22:32801728-32801728
30 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*854G>A SNV Uncertain significance 900074 GRCh37: 22:33256218-33256218
GRCh38: 22:32860231-32860231
31 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1115C>T SNV Uncertain significance 900075 GRCh37: 22:33256479-33256479
GRCh38: 22:32860492-32860492
32 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1188C>T SNV Uncertain significance 900076 GRCh37: 22:33256552-33256552
GRCh38: 22:32860565-32860565
33 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2424G>A SNV Uncertain significance 900141 GRCh37: 22:33257788-33257788
GRCh38: 22:32861801-32861801
34 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1504G>A SNV Uncertain significance 901237 GRCh37: 22:33256868-33256868
GRCh38: 22:32860881-32860881
35 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*1802A>G SNV Uncertain significance 901238 GRCh37: 22:33257166-33257166
GRCh38: 22:32861179-32861179
36 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2698A>G SNV Uncertain significance 901300 GRCh37: 22:33258062-33258062
GRCh38: 22:32862075-32862075
37 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2763C>T SNV Uncertain significance 901301 GRCh37: 22:33258127-33258127
GRCh38: 22:32862140-32862140
38 TIMP3 , SYN3 NM_000362.5(TIMP3):c.*2943C>T SNV Uncertain significance 901302 GRCh37: 22:33258307-33258307
GRCh38: 22:32862320-32862320
39 TIMP3 , SYN3 NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys) SNV Uncertain significance 931965 GRCh37: 22:33255237-33255237
GRCh38: 22:32859250-32859250
40 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+3526_711+3527insTTT Insertion Uncertain significance 341378 rs886057447 GRCh37: 22:33257375-33257376
GRCh38: 22:32861388-32861389
41 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+1889del Deletion Uncertain significance 341410 rs886057454 GRCh37: 22:33259013-33259013
GRCh38: 22:32863026-32863026
42 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+4001del Deletion Uncertain significance 341365 rs766674644 GRCh37: 22:33256901-33256901
GRCh38: 22:32860914-32860914
43 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+3984del Deletion Uncertain significance 341367 rs886057442 GRCh37: 22:33256918-33256918
GRCh38: 22:32860931-32860931
44 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+2195_711+2196del Microsatellite Uncertain significance 341407 rs767627836 GRCh37: 22:33258706-33258707
GRCh38: 22:32862719-32862720
45 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+5325dup Duplication Uncertain significance 341351 rs886057435 GRCh37: 22:33255576-33255577
GRCh38: 22:32859589-32859590
46 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+63018C>G SNV Uncertain significance 341341 rs886057432 GRCh37: 22:33197883-33197883
GRCh38: 22:32801897-32801897
47 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+63217C>T SNV Uncertain significance 341338 rs886057431 GRCh37: 22:33197684-33197684
GRCh38: 22:32801698-32801698
48 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+4241A>G SNV Uncertain significance 341362 rs886057440 GRCh37: 22:33256661-33256661
GRCh38: 22:32860674-32860674
49 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+4548C>T SNV Uncertain significance 341359 rs886057439 GRCh37: 22:33256354-33256354
GRCh38: 22:32860367-32860367
50 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+3258A>G SNV Uncertain significance 341384 rs886057448 GRCh37: 22:33257644-33257644
GRCh38: 22:32861657-32861657

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

72
# 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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 MMP2
2
Show member pathways
13.45 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 FGF2
3
Show member pathways
13.32 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
4
Show member pathways
13.23 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
5
Show member pathways
13.19 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
6
Show member pathways
13.15 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 FGF2
7
Show member pathways
12.96 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
8
Show member pathways
12.94 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
9 12.75 VEGFA MMP2 FGF2 CXCL12 BMP4
10
Show member pathways
12.65 TIMP2 TIMP1 MMP2 FGF2 BMP4
11
Show member pathways
12.53 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
12
Show member pathways
12.24 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
13 12.2 VEGFA TIMP3 MMP2 FGF2
14
Show member pathways
11.91 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
15 11.89 VEGFA TIMP1 MMP2 FGF2
16 11.75 VEGFA CXCL12 ATP6V1H ATP6V1G3
17
Show member pathways
11.72 TIMP4 TIMP3 TIMP2 TIMP1 MMP2
18 11.69 VEGFA FGF2 BMP4
19 11.6 TIMP3 TIMP2 TIMP1 MMP2 FGF2
20 11.58 VEGFA TIMP3 FGF2
21 11.54 TIMP1 MMP2 FGF2
22 11.54 TIMP3 TIMP2 TIMP1 MMP2
23 11.4 VEGFA FGF2 BMP4
24 10.88 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
25 10.86 TIMP4 TIMP3 TIMP2 TIMP1 FGF2 CXCL12
26 10.64 VEGFA TIMP3 TIMP2 FGF2

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 9.81 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 MMP2
2 extracellular region GO:0005576 9.65 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 MMP2
3 extracellular matrix GO:0031012 9.1 VEGFA TIMP4 TIMP3 TIMP2 TIMP1 MMP2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 VEGFA TIMP1 FGF2 CXCL12 BMP4
2 cytokine-mediated signaling pathway GO:0019221 9.92 VEGFA TIMP1 MMP2 FGF2
3 angiogenesis GO:0001525 9.88 VEGFA MMP2 FGF2 BMP4
4 positive regulation of neuron differentiation GO:0045666 9.77 TIMP2 CXCL12 BMP4
5 lung development GO:0030324 9.77 VEGFA FGF2 BMP4
6 negative regulation of endopeptidase activity GO:0010951 9.76 TIMP4 TIMP3 TIMP2 TIMP1
7 positive regulation of endothelial cell migration GO:0010595 9.73 VEGFA FGF2 BMP4
8 extracellular matrix disassembly GO:0022617 9.72 TIMP2 TIMP1 MMP2
9 positive regulation of epithelial cell proliferation GO:0050679 9.7 VEGFA FGF2 BMP4
10 response to peptide hormone GO:0043434 9.69 TIMP4 TIMP1 CXCL12
11 negative regulation of peptidase activity GO:0010466 9.67 TIMP4 TIMP3 TIMP2 TIMP1
12 positive chemotaxis GO:0050918 9.65 VEGFA FGF2 BMP4
13 monocyte differentiation GO:0030224 9.62 VEGFA BMP4
14 response to organic substance GO:0010033 9.62 TIMP4 TIMP3 TIMP2 TIMP1
15 positive regulation of DNA biosynthetic process GO:2000573 9.61 VEGFA FGF2
16 induction of positive chemotaxis GO:0050930 9.61 VEGFA CXCL12
17 cellular response to UV-A GO:0071492 9.57 TIMP1 MMP2
18 positive regulation of endothelial cell proliferation GO:0001938 9.56 VEGFA FGF2 CXCL12 BMP4
19 negative regulation of metallopeptidase activity GO:1905049 9.54 TIMP2 TIMP1
20 positive regulation of axon extension involved in axon guidance GO:0048842 9.49 VEGFA CXCL12
21 response to hormone GO:0009725 9.46 TIMP4 TIMP3 TIMP2 TIMP1
22 positive regulation of epithelial tube formation GO:1905278 9.43 VEGFA FGF2
23 wybutosine biosynthetic process GO:0031591 9.4 TYW1B TYW1
24 response to cytokine GO:0034097 9.26 TIMP4 TIMP3 TIMP2 TIMP1
25 negative regulation of membrane protein ectodomain proteolysis GO:0051045 8.92 TIMP4 TIMP3 TIMP2 TIMP1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.71 TIMP4 TIMP3 TIMP2 TIMP1
2 protease binding GO:0002020 9.67 TIMP4 TIMP3 TIMP2 TIMP1
3 cytokine activity GO:0005125 9.65 VEGFA TIMP1 FGF2 CXCL12 BMP4
4 chemoattractant activity GO:0042056 9.61 VEGFA FGF2 BMP4
5 growth factor activity GO:0008083 9.55 VEGFA TIMP1 FGF2 CXCL12 BMP4
6 FMN binding GO:0010181 9.46 TYW1B TYW1
7 tRNA-4-demethylwyosine synthase activity GO:0102521 9.32 TYW1B TYW1
8 enzyme inhibitor activity GO:0004857 9.26 TIMP4 TIMP3 TIMP2 TIMP1
9 metalloendopeptidase inhibitor activity GO:0008191 8.92 TIMP4 TIMP3 TIMP2 TIMP1

Sources for Sorsby Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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