Aliases & Classifications for Fundus Dystrophy

Aliases & Descriptions for Fundus Dystrophy:

Name: Fundus Dystrophy 12 14
Retinal Dystrophies 42 69
Retinal Dystrophy 12 29

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 42 D058499
NCIt 47 C35625
SNOMED-CT 64 314407005
UMLS 69 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophies, is related to sorsby fundus dystrophy and mental retardation, truncal obesity, retinal dystrophy, and micropenis. An important gene associated with Fundus Dystrophy is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Degradation of the extracellular matrix and G-protein signaling Ras family GTPases in kinase cascades (scheme). The drugs Lutein and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial, and related phenotypes are cardiovascular system and nervous system

Related Diseases for Fundus Dystrophy

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

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 12.4
2 mental retardation, truncal obesity, retinal dystrophy, and micropenis 12.2
3 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.2
4 pseudoinflammatory fundus dystrophy 12.2
5 bothnia retinal dystrophy 12.2
6 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.1
7 retinal dystrophy and obesity 12.1
8 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.1
9 hereditary retinal dystrophy 12.1
10 severe early-childhood-onset retinal dystrophy 12.0
11 retinal dystrophy with or without extraocular anomalies 12.0
12 doyne honeycomb degeneration of retina 11.8
13 retinal dystrophies primarily involving bruch's membrane 11.7
14 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 11.7
15 cone-rod dystrophy 11.7
16 retinal dystrophy in systemic or cerebroretinal lipidoses 11.7
17 retinal dystrophy and iris coloboma with or without cataract 11.7
18 retinal dystrophy, early-onset, and pituitary dysfunction 11.7
19 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 11.7
20 leber congenital amaurosis 14 11.6
21 fundus albipunctatus 10.7
22 facio skeletal genital syndrome rippberger type 10.4 MMP2 MMP9
23 linear focal dermal elastosis 10.4 ELN FBN1
24 kleptomania 10.4 MMP2 MMP3 MMP9
25 right atrium familial dilatation 10.4 MMP3 MMP9
26 central nervous system adult germ cell tumor 10.4 MMP3 MMP9 TIMP2
27 appendix carcinoid tumor 10.4 MMP2 MMP9 TIMP1
28 chondrodysplasia punctata, rhizomelic, type 1 10.4 MMP3 MMP9 TIMP1
29 tinea profunda 10.4 ELN MMP2 MMP9
30 adult-onset distal myopathy due to vcp mutation 10.4 ELN FBN1 MMP9
31 acute sensory ataxic neuropathy 10.4 ELN FBN1
32 benign focal seizures of adolescence 10.4 ELN FBN1 TIMP1
33 retinal artery occlusion 10.4 MMP2 MMP3 MMP9
34 adult neuronal ceroid lipofuscinosis 10.4 MMP2 MMP9 TIMP2
35 acute pure sensory neuropathy 10.4 ELN FBN1
36 breast papillary carcinoma 10.4 MMP2 MMP9 TIMP1
37 vitreoretinochoroidopathy 10.4 ABCA4 RS1 TIMP3
38 zika fever 10.4 MMP2 MMP3 TIMP1
39 maxillary neoplasm 10.4 MMP2 MMP9 TIMP1 TIMP2
40 adenoid squamous cell carcinoma 10.4 MMP2 MMP9 TIMP1 TIMP2
41 angiomyoma 10.4 MMP2 MMP3 TIMP1 TIMP2
42 retinal drusen 10.4 MMP2 MMP9 TIMP1 TIMP2
43 nodular cutaneous amyloidosis 10.4 MMP2 MMP9 TIMP1 TIMP2
44 syngnathia cleft palate 10.4 MMP3 TIMP1 TIMP2
45 renal oncocytoma 10.4 ELN MMP9 TIMP1 TIMP2
46 algoneurodystrophy 10.4 ELN FBN1 MMP2
47 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.4 ELN FBN1
48 chronic polyneuropathy 10.4 ELN FBN1 MMP2 MMP9
49 histiocytosis 10.4 MMP2 MMP3 MMP9 TIMP1
50 pediatric osteosarcoma 10.4 MMP2 MMP9 TIMP1 TIMP2

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



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

MGI Mouse Phenotypes related to Fundus Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 RPGR TIMP1 TIMP2 TIMP3 ABCA4 BBS1
2 nervous system MP:0003631 9.97 ABCA4 BBS1 FBN1 MFRP MMP2 MMP3
3 pigmentation MP:0001186 9.56 ABCA4 FBN1 MFRP PROM1 RPE65 RPGR
4 vision/eye MP:0005391 9.4 USH2A ABCA4 BBS1 MFRP MMP2 MMP9

Drugs & Therapeutics for Fundus Dystrophy

Drugs for Fundus Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159 5368396
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
4 Antioxidants Phase 3,Phase 2,Phase 1
5 Bone Density Conservation Agents Phase 3
6 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
7 Protective Agents Phase 3,Phase 2,Phase 1
8 Retinol palmitate Phase 3,Phase 2,Phase 1
9 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
10 vitamin d Phase 3
11 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
12 Tocopherols Phase 3
13 Tocotrienols Phase 3
14 Antihypertensive Agents Phase 3,Phase 1,Phase 2
15 Carotenoids Phase 2, Phase 3,Phase 1
16 Isopropyl unoprostone Phase 3
17 retinol Nutraceutical Phase 3,Phase 2,Phase 1
18 Tocopherol Nutraceutical Phase 3
19 Tocotrienol Nutraceutical Phase 3
20 Beta Carotene Nutraceutical Phase 2, Phase 3,Phase 1
21
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
22
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
23
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
24
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
25
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
26
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
27
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
28
Carbidopa Approved Phase 2 28860-95-9 34359 38101
29
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
30
Levodopa Approved Phase 2 59-92-7 6047
31
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
32
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
33
acetic acid Approved, Nutraceutical Phase 2,Phase 1 64-19-7 176
34 Autonomic Agents Phase 1, Phase 2
35 Mitogens Phase 1, Phase 2
36 Nasal Decongestants Phase 1, Phase 2
37 Ophthalmic Solutions Phase 1, Phase 2
38 Peripheral Nervous System Agents Phase 1, Phase 2
39 Pharmaceutical Solutions Phase 1, Phase 2
40 Respiratory System Agents Phase 1, Phase 2
41 Tetrahydrozoline Phase 1, Phase 2
42 Vasoconstrictor Agents Phase 1, Phase 2
43 Anti-Infective Agents Phase 1, Phase 2
44 Anticonvulsants Phase 2
45 Antimanic Agents Phase 2
46 Central Nervous System Depressants Phase 2
47 GABA Agents Phase 2
48 Neurotransmitter Agents Phase 2,Phase 1
49 Psychotropic Drugs Phase 2
50 Tranquilizing Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 148)
id Name Status NCT ID Phase
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3
5 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
6 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
7 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3
8 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2
9 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
10 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2
11 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
12 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2
13 Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy Completed NCT01345006 Phase 1, Phase 2
14 Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01469832 Phase 1, Phase 2
15 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
16 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
17 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
18 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2
19 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2
20 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
21 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2
22 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2
23 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2
24 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2
25 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
26 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879 Phase 1, Phase 2
27 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
28 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2
29 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
30 RST-001 Phase I/II Trial for Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2
31 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
32 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2
33 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
34 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
35 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
36 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Active, not recruiting NCT02320812 Phase 1, Phase 2
37 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
38 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
39 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
40 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
41 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2
42 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Active, not recruiting NCT02609165 Phase 2
43 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
44 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2
45 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
46 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2
47 Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
48 Feasibility and Safety of Adult Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis Pigmentosa Unknown status NCT01531348 Phase 1
49 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1
50 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

id Genetic test Affiliating Genes
1 Retinal Dystrophy 29

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

39
Eye, Testes, Endothelial

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 77)
id Title Authors Year
1
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. ( 27587748 )
2016
2
Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby's Fundus Dystrophy. ( 26239453 )
2015
3
Sorsby's Fundus Dystrophy: Novel mutations, novel phenotypic characteristics and treatment outcomes. ( 25766588 )
2015
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
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. ( 25390527 )
2013
7
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. ( 23023527 )
2013
8
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. ( 25390961 )
2012
9
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. ( 22183341 )
2012
10
Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. ( 25389882 )
2011
11
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. ( 19536307 )
2009
12
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
13
Sorsby's Fundus Dystrophy: a case report to raise awareness of the disease and potential future treatments. ( 19459875 )
2009
14
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. ( 18295466 )
2008
15
Clinical course and treatment outcomes of Sorsby fundus dystrophy. ( 18501328 )
2008
16
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
17
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. ( 18019015 )
2007
18
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). ( 17433023 )
2007
19
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. ( 16989765 )
2006
20
Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy. ( 17151501 )
2006
21
A novel TIMP3 mutation associated with Sorsby fundus dystrophy. ( 15824229 )
2005
22
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide. ( 15805922 )
2005
23
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. ( 16259644 )
2005
24
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. ( 16223891 )
2005
25
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. ( 14977790 )
2004
26
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. ( 12942551 )
2003
27
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. ( 14597066 )
2003
28
Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up. ( 12770993 )
2003
29
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. ( 15180253 )
2003
30
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. ( 12757930 )
2003
31
Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy. ( 12064931 )
2002
32
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. ( 11879143 )
2002
33
Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix. ( 11827795 )
2002
34
Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. ( 12372614 )
2002
35
A mouse model for Sorsby fundus dystrophy. ( 12147610 )
2002
36
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. ( 11821400 )
2002
37
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism. ( 11734514 )
2001
38
Sorsby's fundus dystrophy. ( 11486938 )
2001
39
Indocyanine green angiography in Sorsby's fundus dystrophy. ( 10766286 )
2000
40
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. ( 10854443 )
2000
41
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. ( 10711711 )
2000
42
What is Sorsby's fundus dystrophy? ( 10873972 )
2000
43
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. ( 10873973 )
2000
44
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration? ( 12482286 )
1999
45
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. ( 10396378 )
1999
46
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. ( 10672875 )
1999
47
A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. ( 9760202 )
1998
48
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. ( 9924344 )
1998
49
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. ( 9642234 )
1998
50
[Sorsby's fundus dystrophy. A genetically homogeneous disease]. ( 9643018 )
1998

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
3 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
4 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
5 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
6 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
7 ABCA4 NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr) single nucleotide variant Pathogenic rs61751402 GRCh37 Chromosome 1, 94495071: 94495071
8 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
9 DRAM2 NM_178454.5(DRAM2): c.494G> A (p.Trp165Ter) single nucleotide variant Pathogenic rs201422368 GRCh37 Chromosome 1, 111663161: 111663161
10 DRAM2 NM_178454.5(DRAM2): c.362A> T (p.His121Leu) single nucleotide variant Pathogenic rs786205664 GRCh37 Chromosome 1, 111663293: 111663293
11 DRAM2 NM_178454.5(DRAM2): c.217_225delGTTCGTTAT (p.Val73_Tyr75del) deletion Pathogenic rs786205663 GRCh37 Chromosome 1, 111667478: 111667486
12 DRAM2 NM_178454.5(DRAM2): c.140delG (p.Gly47Valfs) deletion Pathogenic rs746559651 GRCh37 Chromosome 1, 111668908: 111668908
13 DRAM2 NM_178454.5(DRAM2): c.131G> A (p.Ser44Asn) single nucleotide variant Pathogenic rs786205665 GRCh37 Chromosome 1, 111674046: 111674046
14 DRAM2 NM_178454.5(DRAM2): c.79T> C (p.Tyr27His) single nucleotide variant Pathogenic rs786205662 GRCh37 Chromosome 1, 111674098: 111674098
15 DRAM2 NM_178454.5(DRAM2): c.64_66delGCT (p.Ala22del) deletion Pathogenic rs786205661 GRCh37 Chromosome 1, 111674111: 111674113
16 RPGR NM_001034853.1(RPGR): c.1928C> G (p.Ser643Ter) single nucleotide variant Pathogenic rs869312185 GRCh37 Chromosome X, 38146324: 38146324
17 PDE6B NM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876657718 GRCh37 Chromosome 4, 619706: 619706
18 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic/Likely pathogenic rs747835249 GRCh37 Chromosome 12, 88508195: 88508196
19 VPS13B NM_017890.4(VPS13B): c.4620delA (p.Ser1541Profs) deletion Pathogenic rs1057518939 GRCh37 Chromosome 8, 100523652: 100523652

Expression for Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for Fundus Dystrophy

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

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 ELN FBN1 MMP13 MMP2 MMP3 MMP9
2
Show member pathways
12.09 MMP13 MMP3 TIMP1 TIMP3
3 11.81 MMP2 MMP3 MMP9 TIMP1
4 11.77 MMP2 MMP3 MMP9
5 11.57 MMP2 MMP3 MMP9 TIMP1 TIMP2 TIMP3
6 11.52 MMP13 MMP2 MMP9
7 11.5 MMP13 MMP9 TIMP3
8
Show member pathways
11.5 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2
9
Show member pathways
11.47 MMP2 MMP3 MMP9
10 11.47 ELN MMP2 MMP9 TIMP1
11
Show member pathways
11.39 ABCA4 RDH5 RPE65
12 11.21 ELN MMP3 MMP9 TIMP2
13 11.01 MMP9 TIMP1 TIMP2
14 10.96 MMP9 TIMP2 TIMP3
15 10.95 MMP13 MMP2 MMP3 MMP9 TIMP1 TIMP2

GO Terms for Fundus Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 FBN1 MMP13 MMP2 MMP3 MMP9 PROM1
2 extracellular region GO:0005576 9.93 ELN EYS FBN1 MMP13 MMP2 MMP3
3 apical plasma membrane GO:0016324 9.71 DRAM2 MFRP PROM1 USH2A
4 basement membrane GO:0005604 9.62 FBN1 TIMP1 TIMP3 USH2A
5 ciliary basal body GO:0036064 9.61 BBS1 RPGR USH2A
6 extracellular matrix GO:0031012 9.56 FBN1 MMP13 MMP2 MMP3 MMP9 TIMP1
7 photoreceptor outer segment GO:0001750 9.54 ABCA4 PROM1 RPGR
8 proteinaceous extracellular matrix GO:0005578 9.28 ELN FBN1 MMP13 MMP2 MMP3 MMP9

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 ABCA4 BBS1 EYS RDH5 RPE65 RPGR
2 cellular protein metabolic process GO:0044267 9.76 FBN1 MMP13 MMP2 TIMP1
3 collagen catabolic process GO:0030574 9.67 MMP13 MMP2 MMP3 MMP9
4 retinoid metabolic process GO:0001523 9.61 ABCA4 RDH5 RPE65
5 extracellular matrix disassembly GO:0022617 9.56 ELN FBN1 MMP13 MMP2 MMP3 MMP9
6 photoreceptor cell maintenance GO:0045494 9.55 ABCA4 BBS1 DRAM2 PROM1 USH2A
7 detection of light stimulus involved in visual perception GO:0050908 9.51 EYS RPE65
8 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.5 TIMP1 TIMP2 TIMP3
9 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.49 MMP2 MMP9
10 retina morphogenesis in camera-type eye GO:0060042 9.48 PROM1 RPE65
11 negative regulation of metallopeptidase activity GO:1905049 9.4 TIMP1 TIMP2
12 visual perception GO:0007601 9.36 ABCA4 BBS1 DRAM2 EYS MFRP RDH5

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.67 MMP13 MMP2 MMP3 MMP9
2 protease binding GO:0002020 9.58 TIMP1 TIMP2 TIMP3
3 metallopeptidase activity GO:0008237 9.56 MMP13 MMP2 MMP3 MMP9
4 collagen binding GO:0005518 9.5 MMP13 MMP9 USH2A
5 enzyme inhibitor activity GO:0004857 9.33 TIMP1 TIMP2 TIMP3
6 metalloendopeptidase activity GO:0004222 9.26 MMP13 MMP2 MMP3 MMP9
7 metalloendopeptidase inhibitor activity GO:0008191 8.8 TIMP1 TIMP2 TIMP3

Sources for Fundus Dystrophy

3 CDC
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16 ExPASy
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