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 10 12
Retinal Dystrophy 10 24
 
Retinal Dystrophies 62


External Ids:

Disease Ontology10 DOID:8501
NCIt40 C35625
SNOMED-CT57 314407005
MeSH35 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 199)
idRelated DiseaseScoreTop Affiliating Genes
1sorsby fundus dystrophy31.4TIMP3
2night blindness30.1TIMP3, RDH5
3retinal degeneration30.0TIMP3, RDH5
4pseudoinflammatory fundus dystrophy10.6
5hereditary retinal dystrophy10.6
6doyne honeycomb degeneration of retina10.5
7choroiditis10.5
8mental retardation, truncal obesity, retinal dystrophy, and micropenis10.4
9bothnia retinal dystrophy10.4
10leber congenital amaurosis10.4
11retinitis10.4
12severe early-childhood-onset retinal dystrophy10.4
13roifman syndrome10.3
14obesity10.3
15ataxia10.3
16retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies10.3
17stargardt disease 110.2
18leber congenital amaurosis 1410.2
19retinal dystrophy and obesity10.2
20microphthalmia, syndromic 510.2
21retinol dystrophy, iris coloboma, and comedogenic acne syndrome10.2
22bardet-biedl syndrome10.2
23retinal dystrophies primarily involving bruch's membrane10.2
24anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.2
25aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability10.2
26progressive retinal dystrophy due to retinol transport defect10.2
27peroxisome biogenesis disorder 6b10.1
28peroxisome biogenesis disorder 4b10.1
29macular dystrophy, patterned, 110.1
30peroxisome biogenesis disorder 5b10.1
31joubert syndrome 110.1
32peroxisome biogenesis disorder 8b10.1
33retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities10.1
34retinal dystrophy, juvenile cataracts, and short stature syndrome10.1
35peroxisome biogenesis disorder 3b10.1
36ceroid lipofuscinosis, neuronal, 1110.1
37poretti-boltshauser syndrome10.1
38boucher-neuhauser syndrome10.1
39peroxisome biogenesis disorder 7b10.1
40cone-rod dystrophy10.1
41senior-loken syndrome-110.1
42cerebellar ataxia10.1
43stargardt disease10.1
44mannosidosis10.1
45usher syndrome10.1
46retinal dystrophy in systemic or cerebroretinal lipidoses10.1
47hypogonadism10.1
48mental retardation10.1
49familial drusen10.1
50fundus albipunctatus10.1

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 Dystrophy24

Anatomical Context for Fundus Dystrophy

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MalaCards organs/tissues related to Fundus Dystrophy:

33
Eye, Testes, Endothelial

Animal Models for Fundus Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fundus Dystrophy:

37
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 75)
idTitleAuthorsYear
1
Sorsby's Fundus Dystrophy: Novel mutations, novel phenotypic characteristics and treatment outcomes. (25766588)
2015
2
ALTERING THE CLINICAL COURSE OF SORSBY FUNDUS DYSTROPHY WITH THE USE OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INTRAOCULAR THERAPY. (25383845)
2014
3
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. (25390527)
2013
4
Ranibizumab for the management of Sorsby fundus dystrophy. (23099917)
2013
5
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. (23023527)
2013
6
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. (22183341)
2012
7
Clinical course and treatment outcomes of Sorsby fundus dystrophy. (18501328)
2008
8
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
9
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). (17433023)
2007
10
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. (18019015)
2007
11
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. (16223891)
2005
12
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. (16259644)
2005
13
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. (12757930)
2003
14
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. (14597066)
2003
15
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. (12942551)
2003
16
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. (15180253)
2003
17
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. (11821400)
2002
18
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
19
A mouse model for Sorsby fundus dystrophy. (12147610)
2002
20
Sorsby's fundus dystrophy. (11486938)
2001
21
Indocyanine green angiography in Sorsby's fundus dystrophy. (10766286)
2000
22
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. (10873973)
2000
23
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. (10711711)
2000
24
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. (10854443)
2000
25
What is Sorsby's fundus dystrophy? (10873972)
2000
26
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. (10396378)
1999
27
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. (10672875)
1999
28
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration? (12482286)
1999
29
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. (9924344)
1998
30
Sorsby's fundus dystrophy. A genetically homogeneous disease]. (9643018)
1998
31
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
32
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. (9642234)
1998
33
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. (9286267)
1997
34
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. (9400791)
1997
35
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
36
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. (8919688)
1996
37
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. (8728699)
1996
38
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. (8634721)
1995
39
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. (7783180)
1995
40
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. (7920634)
1994
41
Recurrent choroidal neovascularization after laser photocoagulation in Sorsby's fundus dystrophy. (7529420)
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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Search GEO for disease gene expression data for Fundus Dystrophy.

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
Angiogenesis38
9.5MMP9, TIMP3
4
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
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 1459.8MMP3, TIMP1
2ilomastat459.7MMP9, MMP3
3methyl selenol459.7TIMP1, MMP9
4gelfoam459.6MMP9, ELN
5chondroitin sulfate45 2610.6MMP3, TIMP3, ELN
6tranilast459.6MMP9, TIMP1
7pyridinoline459.5MMP3, ELN, TIMP1
8alginate459.5ELN, MMP3, TIMP1
9nimesulide45 1310.4TIMP1, MMP3
10nobiletin459.4MMP9, TIMP1
11hematoxylin459.3ELN, MMP3, MMP9
12latanoprost45 1310.3TIMP1, MMP9, MMP3
13hydroxamate459.3MMP9, TIMP1, MMP3
14hydroxyproline45 26 1311.3TIMP1, MMP9, ELN
15marimastat45 61 1311.3TIMP1, MMP3, MMP9
16bleomycin45 1310.3ELN, MMP9, TIMP1
17phorbol459.1TIMP1, MMP9, MMP3
18p002459.1MMP3, TIMP1, MMP9
19nifedipine45 30 51 1312.1MMP9, ELN, TIMP1
20cytochalasin d45 6110.1MMP9, MMP3, TIMP1
21egcg459.0TIMP1, MMP9, MMP3
22heparin45 30 26 1312.0MMP3, TIMP3, TIMP1, ELN
231,10-phenanthroline45 39.9MMP3, TIMP3, TIMP1, MMP9
24batimastat45 61 1310.9TIMP3, TIMP1, MMP9, MMP3
25(4-aminophenyl)mercuric acetate458.9ELN, MMP3, MMP9, TIMP1
26doxycycline45 139.9MMP3, ELN, TIMP1, MMP9
27procollagen458.9MMP3, MMP9, TIMP1, ELN
28matrigel458.9TIMP3, TIMP1, MMP9, MMP3
29ribonucleic acid458.9MMP3, MMP9, TIMP1, TIMP3
30hyaluronic acid45 269.9TIMP1, ELN, MMP9, MMP3
3112-o-tetradecanoylphorbol 13-acetate458.9TIMP1, TIMP3, MMP9, MMP3
32curcumin458.9TIMP1, MMP3, MMP9
33methotrexate51 45 1310.9TIMP1, MMP9, MMP3
34chloramphenicol45 3 51 1311.9MMP3, ELN, TIMP1, MMP9
35pd 98,059458.9MMP3, MMP9, TIMP1, TIMP3
36n acetylcysteine458.9ELN, MMP9, TIMP1, MMP3
37vitamin a45 26 1310.8TIMP1, MMP9, RDH5, ELN
38lactate458.8MMP9, ELN, TIMP1, MMP3
39cycloheximide458.7ELN, MMP9, TIMP1, MMP3
40prostaglandin458.6TIMP1, MMP9, MMP3
41glycosaminoglycan458.5ELN, MMP3, MMP9, TIMP1, TIMP3
42tgf beta1458.5MMP3, TIMP3, ELN, TIMP1, MMP9
43paraffin458.5TIMP3, TIMP1, MMP9, MMP3, ELN
44genistein45 30 61 3 26 1313.5TIMP3, TIMP1, MMP9, ELN, MMP3
45dexamethasone45 51 30 1311.5TIMP3, ELN, MMP3, MMP9, TIMP1
46vegf458.5TIMP3, MMP9, TIMP1, MMP3, ELN
47glutamate458.5TIMP1, ELN, MMP3, MMP9, TIMP3
48estrogen458.5ELN, MMP9, MMP3, TIMP3, TIMP1
49retinoic acid45 269.4MMP3, TIMP3, TIMP1, ELN, MMP9
50cysteine458.4MMP3, 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:00056049.6TIMP1, TIMP3
2proteinaceous extracellular matrixGO:00055788.9ELN, MMP3, MMP9
3extracellular regionGO:00055768.2ELN, MMP3, MMP9, TIMP1

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:00109519.6TIMP1, TIMP3
2negative regulation of membrane protein ectodomain proteolysisGO:00510459.5TIMP1, TIMP3
3collagen catabolic processGO:00305749.1MMP3, MMP9
4extracellular matrix disassemblyGO:00226178.5ELN, MMP3, MMP9, TIMP1
5extracellular matrix organizationGO:00301988.5TIMP1, MMP9, MMP3, ELN

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.4MMP3, MMP9
2metalloendopeptidase inhibitor activityGO:00081919.3TIMP1, TIMP3

Products for genes affiliated with Fundus Dystrophy

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Sources for Fundus Dystrophy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet