MCID: FND002
MIFTS: 47

Fundus Dystrophy malady

Eye diseases category
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Summaries for Fundus Dystrophy

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MalaCards based summary: Fundus Dystrophy, also known as retinal dystrophy, is related to sorsby fundus dystrophy and night blindness. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP metallopeptidase inhibitor 3), and among its related pathways are Phospholipase-C Pathway and Endochondral Ossification. The compounds uva 1 and ilomastat have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial, and related mouse phenotypes are respiratory system and skeleton.

Aliases & Classifications for Fundus Dystrophy

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Fundus Dystrophy, Aliases & Descriptions:

Name: Fundus Dystrophy 8 10
Retinal Dystrophy 8 22
 
Retinal Dystrophies 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:8501
NCIt39 C35625
SNOMED-CT57 314407005
MeSH34 D058499

Related Diseases for Fundus Dystrophy

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

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1sorsby fundus dystrophy32.0TIMP3
2night blindness30.4RDH5, TIMP3
3retinal degeneration30.1RDH5, TIMP3
4doyne honeycomb retinal dystrophy10.6
5pseudoinflammatory fundus dystrophy10.6
6hereditary retinal dystrophy10.6
7choroiditis10.5
8bothnia retinal dystrophy10.4
9retinitis10.4
10leber congenital amaurosis10.4
11morm syndrome10.4
12retinal dystrophy, early-onset, severe10.4
13severe early-childhood-onset retinal dystrophy10.4
14abdominal aortic aneurysm10.3MMP9
15fundus dystrophy, pseudoinflammatory, of sorsby10.3
16obesity10.3
17ataxia10.3
18retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies10.3
19synovitis10.2TIMP1, MMP3
2021-hydroxylase deficiency10.2TIMP3, TIMP1
21bardet-biedl syndrome10.2
22retinal dystrophies primarily involving bruch's membrane10.2
23anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.2
24roifman syndrome10.2
25retinal dystrophy, early-onset, and pituitary dysfunction10.2
26aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability10.2
27gingival overgrowth10.2TIMP1, MMP3
28hypertrophic scars10.2TIMP1, ELN
29arthritis10.2TIMP1, MMP3
30pulmonary emphysema10.2ELN, MMP9
31periodontal disease10.1MMP3, TIMP1
32arthropathy10.1MMP3, TIMP1
33chronic obstructive pulmonary disease10.1TIMP1, MMP9
34relapsing-remitting multiple sclerosis10.1TIMP1, MMP9
35stargardt disease10.1
36cerebellar ataxia10.1
37mannosidosis10.1
38retinal dystrophy in systemic or cerebroretinal lipidoses10.1
39vitelliform macular dystrophy10.1
40joubert syndrome10.1
41hypogonadism10.1
42cone-rod dystrophy 210.1
43rhyns syndrome10.1
44mental retardation10.1
45retinol dystrophy, iris coloboma, and comedogenic acne syndrome10.1
46retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities10.1
47interstitial lung disease10.1MMP9, TIMP1
48cholesteatoma10.1MMP9, MMP3
49keratoconus10.1TIMP3, TIMP1, MMP3
50retinitis pigmentosa10.1

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



Diseases related to fundus dystrophy

Symptoms for Fundus Dystrophy

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Drugs & Therapeutics for Fundus Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Fundus Dystrophy

Search NIH Clinical Center for Fundus Dystrophy

Genetic Tests for Fundus Dystrophy

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Genetic tests related to Fundus Dystrophy:

id Genetic test Affiliating Genes
1 Retinal Dystrophy22

Anatomical Context for Fundus Dystrophy

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MalaCards organs/tissues related to Fundus Dystrophy:

32
Eye, Testes, Endothelial

Animal Models for Fundus Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fundus Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6TIMP3, TIMP1, MMP9, ELN
2MP:00053908.2BBS12, ELN, MMP3, MMP9
3MP:00053917.8TIMP3, MMP9, BBS12, RDH5
4MP:00053877.6TIMP3, TIMP1, MMP9, MMP3, BBS12
5MP:00053767.3BBS12, ELN, MMP3, MMP9, TIMP1, TIMP3

Publications for Fundus Dystrophy

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Articles related to Fundus Dystrophy:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
ALTERING THE CLINICAL COURSE OF SORSBY FUNDUS DYSTROPHY WITH THE USE OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INTRAOCULAR THERAPY. (25383845)
2014
2
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. (25390527)
2013
3
Ranibizumab for the management of Sorsby fundus dystrophy. (23099917)
2013
4
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. (23023527)
2013
5
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. (22183341)
2012
6
Clinical course and treatment outcomes of Sorsby fundus dystrophy. (18501328)
2008
7
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
8
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). (17433023)
2007
9
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. (18019015)
2007
10
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. (16223891)
2005
11
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. (16259644)
2005
12
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. (12757930)
2003
13
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. (14597066)
2003
14
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. (12942551)
2003
15
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. (15180253)
2003
16
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. (11821400)
2002
17
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
18
A mouse model for Sorsby fundus dystrophy. (12147610)
2002
19
Sorsby's fundus dystrophy. (11486938)
2001
20
Indocyanine green angiography in Sorsby's fundus dystrophy. (10766286)
2000
21
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. (10873973)
2000
22
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. (10711711)
2000
23
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. (10854443)
2000
24
What is Sorsby's fundus dystrophy? (10873972)
2000
25
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. (10396378)
1999
26
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. (10672875)
1999
27
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration? (12482286)
1999
28
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. (9924344)
1998
29
Sorsby's fundus dystrophy. A genetically homogeneous disease]. (9643018)
1998
30
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
31
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. (9642234)
1998
32
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. (9286267)
1997
33
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. (9400791)
1997
34
Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation. (8981701)
1996
35
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. (8919688)
1996
36
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. (8728699)
1996
37
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. (8634721)
1995
38
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. (7783180)
1995
39
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. (7920634)
1994
40
Recurrent choroidal neovascularization after laser photocoagulation in Sorsby's fundus dystrophy. (7529420)
1994
41
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. (7894485)
1994
42
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. (1559761)
1992
43
Features of Sorsby's fundus dystrophy. (2255509)
1990
44
Sorsby's fundus dystrophy. A clinical study. (2622621)
1989
45
Sorsby's fundus dystrophy. (2695876)
1989
46
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. (7148944)
1982
47
Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. (1085369)
1976
48
Fluorescein photography of generalized dominant fundus dystrophy. (5696910)
1968
49
Fundus dystrophy with unusual features; a histological study. (14895843)
1951
50
Further cases of a fundus dystrophy with unusual features. (15426706)
1950

Variations for Fundus Dystrophy

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Expression for genes affiliated with Fundus Dystrophy

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Expression patterns in normal tissues for genes affiliated with Fundus Dystrophy

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Pathways for genes affiliated with Fundus Dystrophy

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Pathways related to Fundus Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7TIMP3, ELN
29.5MMP9, TIMP3
3
Show member pathways
Angiogenesis37
9.5MMP9, TIMP3
4
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.1TIMP3, TIMP1, MMP3
5
Show member pathways
9.0ELN, MMP3, MMP9
69.0MMP9, MMP3, ELN
7
Show member pathways
9.0MMP9, TIMP1, TIMP3
89.0MMP9, TIMP1, TIMP3
99.0MMP9, TIMP1, TIMP3
10
Show member pathways
8.5TIMP3, TIMP1, MMP9, MMP3
11
Show member pathways
8.5TIMP3, TIMP1, MMP9, MMP3
12
Show member pathways
8.5ELN, MMP3, MMP9, TIMP1
13
Show member pathways
8.1ELN, MMP3, MMP9, TIMP1, TIMP3

Compounds for genes affiliated with Fundus Dystrophy

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Compounds related to Fundus Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1uva 1449.8MMP3, TIMP1
2ilomastat449.7MMP9, MMP3
3methyl selenol449.7TIMP1, MMP9
4gelfoam449.6MMP9, ELN
5chondroitin sulfate44 2410.6MMP3, TIMP3, ELN
6tranilast449.6MMP9, TIMP1
7pyridinoline449.5MMP3, ELN, TIMP1
8alginate449.5ELN, MMP3, TIMP1
9nimesulide44 1110.4TIMP1, MMP3
10nobiletin449.4MMP9, TIMP1
11hematoxylin449.3ELN, MMP3, MMP9
12latanoprost44 1110.3TIMP1, MMP9, MMP3
13hydroxamate449.3MMP9, TIMP1, MMP3
14hydroxyproline44 24 1111.3TIMP1, MMP9, ELN
15marimastat44 61 1111.3TIMP1, MMP3, MMP9
16bleomycin44 1110.3ELN, MMP9, TIMP1
17phorbol449.1TIMP1, MMP9, MMP3
18p002449.1MMP3, TIMP1, MMP9
19nifedipine44 28 50 1112.1MMP9, ELN, TIMP1
20cytochalasin d44 6110.1MMP9, MMP3, TIMP1
21egcg449.0TIMP1, MMP9, MMP3
22heparin44 28 24 1112.0MMP3, TIMP3, TIMP1, ELN
231,10-phenanthroline44 29.9MMP3, TIMP3, TIMP1, MMP9
24batimastat44 61 1110.9TIMP3, TIMP1, MMP9, MMP3
25(4-aminophenyl)mercuric acetate448.9ELN, MMP3, MMP9, TIMP1
26doxycycline44 119.9MMP3, ELN, TIMP1, MMP9
27procollagen448.9MMP3, MMP9, TIMP1, ELN
28matrigel448.9TIMP3, TIMP1, MMP9, MMP3
29ribonucleic acid448.9MMP3, MMP9, TIMP1, TIMP3
30hyaluronic acid44 249.9TIMP1, ELN, MMP9, MMP3
3112-o-tetradecanoylphorbol 13-acetate448.9TIMP1, TIMP3, MMP9, MMP3
32curcumin448.9TIMP1, MMP3, MMP9
33methotrexate50 44 1110.9TIMP1, MMP9, MMP3
34chloramphenicol44 2 50 1111.9MMP3, ELN, TIMP1, MMP9
35pd 98,059448.9MMP3, MMP9, TIMP1, TIMP3
36n acetylcysteine448.9ELN, MMP9, TIMP1, MMP3
37vitamin a44 24 1110.8TIMP1, MMP9, RDH5, ELN
38lactate448.8MMP9, ELN, TIMP1, MMP3
39cycloheximide448.7ELN, MMP9, TIMP1, MMP3
40prostaglandin448.6TIMP1, MMP9, MMP3
41glycosaminoglycan448.5ELN, MMP3, MMP9, TIMP1, TIMP3
42tgf beta1448.5MMP3, TIMP3, ELN, TIMP1, MMP9
43paraffin448.5TIMP3, TIMP1, MMP9, MMP3, ELN
44genistein44 28 61 2 24 1113.5TIMP3, TIMP1, MMP9, ELN, MMP3
45dexamethasone44 50 28 1111.5TIMP3, ELN, MMP3, MMP9, TIMP1
46vegf448.5TIMP3, MMP9, TIMP1, MMP3, ELN
47glutamate448.5TIMP1, ELN, MMP3, MMP9, TIMP3
48estrogen448.5ELN, MMP9, MMP3, TIMP3, TIMP1
49retinoic acid44 249.4MMP3, TIMP3, TIMP1, ELN, MMP9
50cysteine448.4MMP3, TIMP3, TIMP1, MMP9, ELN

GO Terms for genes affiliated with Fundus Dystrophy

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Cellular components related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.6TIMP1, TIMP3
2proteinaceous extracellular matrixGO:0055788.9ELN, MMP3, MMP9
3extracellular regionGO:0055768.2ELN, MMP3, MMP9, TIMP1

Biological processes related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.6TIMP1, TIMP3
2negative regulation of membrane protein ectodomain proteolysisGO:0510459.5TIMP1, TIMP3
3collagen catabolic processGO:0305749.1MMP3, MMP9
4extracellular matrix disassemblyGO:0226178.5ELN, MMP3, MMP9, TIMP1
5extracellular matrix organizationGO:0301988.5TIMP1, MMP9, MMP3, ELN

Molecular functions related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042229.4MMP3, MMP9
2metalloendopeptidase inhibitor activityGO:0081919.3TIMP1, TIMP3

Products for genes affiliated with Fundus Dystrophy

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Sources for Fundus Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet