MCID: FND002
MIFTS: 45

Fundus Dystrophy malady

Eye diseases category

Summaries for Fundus Dystrophy

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MalaCards: Fundus Dystrophy, also known as retinal dystrophy, is related to retinitis and leber congenital amaurosis. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP metallopeptidase inhibitor 3), and among its related pathways are Retinol metabolism and the visual cycle I (vertebrates). The compounds retinoid and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include eye and testes, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Fundus Dystrophy

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8Disease Ontology, 10DISEASES, 22GTR, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

fundus dystrophy 8 10
retinal dystrophy 8 22 48
retinal dystrophies 60


External Ids:

Disease Ontology8 DOID:8501
NCIt39 C35625
MeSH34 D058499
SNOMED-CT56 314407005
MESH via Orphanet35 D058499
SNOMED-CT via Orphanet57 314407005
UMLS via Orphanet61 C0854723

Related Diseases for Fundus Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Fundus Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis30.4RDH5
2leber congenital amaurosis30.4AIPL1, TULP1, LRAT
3retinal disease30.4TIMP3, TULP1, RDH5, GUCA1B, GRK1, ROM1
4bardet-biedl syndrome30.2ARL6, BBS12, BBS10
5cone-rod dystrophy 230.1GUCA1B, TIMP3, TULP1, C8orf37, AIPL1
6vitelliform macular dystrophy30.1TIMP3, ROM1
7fundus albipunctatus30.0RDH5
8night blindness30.0LRAT, GRK1, RDH5, TIMP3
9retinal degeneration29.8TIMP3, TULP1, RDH5, RDH8, OPN4, GUCA1B
10rhyns syndrome29.8TIMP3, TULP1, RDH5, GUCA1B, AIPL1, LRAT
11hereditary retinal dystrophy10.5
12pseudoinflammatory fundus dystrophy10.5
13doyne honeycomb retinal dystrophy10.5
14bothnia retinal dystrophy10.4
15cone dystrophy10.4
16cone-rod dystrophy10.4
17choroiditis10.3
18retinal dystrophy, early-onset, severe10.3
19morm syndrome10.3
20fundus dystrophy, pseudoinflammatory, of sorsby10.3
21sorsby fundus dystrophy10.3
22obesity10.2
23severe early-childhood-onset retinal dystrophy10.2
24anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.2
25roifman syndrome10.2
26retinal dystrophy, early-onset, and pituitary dysfunction10.2
27aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit10.2
28stargardt disease10.1
29alstrom syndrome10.1
30retinal dystrophies primarily involving bruch's membrane10.1
31retinal dystrophy in systemic or cerebroretinal lipidoses10.1
32glaucoma10.1
33hypogonadism10.1
34intellectual disability10.1
35spondylometaphyseal dysplasia with cone-rod dystrophy10.1
36retinol dystrophy, iris coloboma, and comedogenic acne syndrome10.1
37retinitis pigmentosa10.0
38gingivitis10.0
39myopia 610.0RDH8
40blindness10.0AIPL1, TIMP3
41bardet-biedl syndrome 1210.0BBS12
42keratoconus10.0TIMP3, AIPL1
43polydactyly10.0ARL6, BBS12, BBS10
44oguchi disease 110.0GRK1, RDH5
45partial central choroid dystrophy10.0TIMP3
46peripheral retinal degeneration10.0ROM1
47congenital stationary night blindness10.0GRK1, RDH5
48neurofibromatosis9.9
49gyrate atrophy9.9
50ichthyosis vulgaris9.9

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



Diseases related to fundus dystrophy

Clinical Features for Fundus Dystrophy

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Drugs & Therapeutics for Fundus Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Fundus Dystrophy

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Genetic Tests for Fundus Dystrophy

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Fundus Dystrophy:

32
Eye, Testes

Animal Models for Fundus Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fundus Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9TULP1, RDH8, OPN4, ARL6, PRPH, GRK1
2MP:00053919.4RGR, BBS12, TIMP3, TULP1, RDH5, RDH8

Publications for Fundus Dystrophy

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50PubMed
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Articles related to Fundus Dystrophy:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. (23023527)
2013
2
Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy. (21468344)
2011
3
Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene. (19955196)
2010
4
Multimodal fundus imaging in Best vitelliform macular dystrophy. (20414784)
2010
5
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. (19433727)
2009
6
Sorsby's Fundus Dystrophy: a case report to raise awareness of the disease and potential future treatments. (19459875)
2009
7
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
8
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. (19536307)
2009
9
Clinical course and treatment outcomes of Sorsby fundus dystrophy. (18501328)
2008
10
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. (18295466)
2008
11
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence. (18441172)
2008
12
A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy--case report. (17955274)
2008
13
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
14
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. (18019015)
2007
15
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. (16989765)
2006
16
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. (16223891)
2005
17
A novel TIMP3 mutation associated with Sorsby fundus dystrophy. (15824229)
2005
18
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. (15234282)
2004
19
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. (15288992)
2004
20
Fundus autofluorescence and vitelliform macular dystrophy. (15249383)
2004
21
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. (14977790)
2004
22
Macular dystrophy in a Japanese family with fundus albipunctatus. (12788147)
2003
23
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. (14597066)
2003
24
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. (12942551)
2003
25
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. (11821400)
2002
26
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
27
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. (11812441)
2002
28
Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy. (12064931)
2002
29
Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. (12372614)
2002
30
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. (11448328)
2001
31
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism. (11734514)
2001
32
Indocyanine green angiography in Sorsby's fundus dystrophy. (10766286)
2000
33
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. (10873973)
2000
34
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (11053295)
2000
35
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. (10711711)
2000
36
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. (10854443)
2000
37
What is Sorsby's fundus dystrophy? (10873972)
2000
38
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. (10396378)
1999
39
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. (10672875)
1999
40
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. (9400791)
1997
41
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. (8634721)
1995
42
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. (7920634)
1994
43
Recurrent choroidal neovascularization after laser photocoagulation in Sorsby's fundus dystrophy. (7529420)
1994
44
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. (7894485)
1994
45
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. (1559761)
1992
46
Pseudoinflammatory fundus dystrophy: a follow-up study. (2387082)
1990
47
Sorsby's fundus dystrophy. A clinical study. (2622621)
1989
48
Sorsby's fundus dystrophy. (2695876)
1989
49
Bietti's crystalline fundus dystrophy. (677651)
1978
50
Further cases of a fundus dystrophy with unusual features. (15426706)
1950

Genetic Variations for Fundus Dystrophy

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Expression for genes affiliated with Fundus Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Fundus Dystrophy

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Fundus Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoid4410.3RGR, LRAT, OPN4, RDH5
2vitamin a44 11 2412.0RGR, LRAT, AIPL1, GRK1, RDH8, RDH5
311-cis-retinol44 2411.0RDH5, LRAT, RGR

GO Terms for genes affiliated with Fundus Dystrophy

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16Gene Ontology
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Cellular components related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00191710.3AIPL1, TULP1
2photoreceptor outer segment membraneGO:04262210.2ROM1, PRPH, OPN1LW
3photoreceptor disc membraneGO:09738110.1GRK1, GUCA1B

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1protein-chromophore linkageGO:01829810.5RGR, OPN1LW, OPN4
2retinoid metabolic processGO:00152310.5RDH5, RDH8, OPN1LW, LRAT
3phototransductionGO:00760210.4RGR, OPN4, TULP1
4retina homeostasisGO:00189510.4AIPL1, BBS10
5rhodopsin mediated signaling pathwayGO:01605610.4OPN4, GUCA1B, GRK1
6chaperone-mediated protein complex assemblyGO:05113110.4BBS12, BBS10
7regulation of rhodopsin mediated signaling pathwayGO:02240010.4GRK1, GUCA1B
8phototransduction, visible lightGO:00760310.3RDH5, RDH8, OPN1LW, GUCA1B, GRK1, AIPL1
9retinol metabolic processGO:04257210.3RDH5, LRAT
10photoreceptor cell maintenanceGO:04549410.1TULP1, BBS10
11visual perceptionGO:0076019.9RGR, BBS10, TIMP3, TULP1, RDH5, RDH8

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor activityGO:00988110.4RGR, OPN1LW
2retinol dehydrogenase activityGO:00474510.2SDR9C7, RDH8, RDH5
3G-protein coupled photoreceptor activityGO:00802010.0OPN4, TULP1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet