MCID: FND002
MIFTS: 48

Fundus Dystrophy malady

Eye diseases, Rare diseases categories

Summaries for Fundus Dystrophy

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34MalaCards
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MalaCards: 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 and testes, and related mouse phenotypes are respiratory system and skeleton.

Aliases & Classifications for Fundus Dystrophy

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Sources:
9Disease Ontology, 23GTR, 11DISEASES, 50Orphanet, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Aliases & Descriptions:

fundus dystrophy 9 11
retinal dystrophy 9 23 50
retinal dystrophies 63


External Ids:

Disease Ontology9 DOID:8501
NCIt41 C35625
MeSH36 D058499
SNOMED-CT59 314407005
MESH via Orphanet37 D058499
SNOMED-CT via Orphanet60 314407005
UMLS via Orphanet64 C0854723

Related Diseases for Fundus Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Fundus Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1sorsby fundus dystrophy31.3TIMP3
2night blindness30.1RDH5, TIMP3
3doyne honeycomb retinal dystrophy10.6
4pseudoinflammatory fundus dystrophy10.6
5hereditary retinal dystrophy10.6
6bothnia retinal dystrophy10.4
7choroiditis10.4
8retinitis10.4
9leber congenital amaurosis10.3
10morm syndrome10.3
11retinal dystrophy, early-onset, severe10.3
12severe early-childhood-onset retinal dystrophy10.3
13fundus dystrophy, pseudoinflammatory, of sorsby10.3
14obesity10.3
15retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies10.3
16bardet-biedl syndrome10.2
17retinal dystrophies primarily involving bruch's membrane10.2
18anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.2
19roifman syndrome10.2
20retinal dystrophy, early-onset, and pituitary dysfunction10.2
21ataxia10.2
22aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability10.2
23stargardt disease10.1
24vitelliform macular dystrophy10.1
25joubert syndrome10.1
26retinal dystrophy in systemic or cerebroretinal lipidoses10.1
27glaucoma10.1
28hypogonadism10.1
29intellectual disability10.1
30cone-rod dystrophy 210.1
31spondylometaphyseal dysplasia with cone-rod dystrophy10.1
32mental retardation10.1
33retinol dystrophy, iris coloboma, and comedogenic acne syndrome10.1
34abdominal aortic aneurysm10.1MMP9
35retinitis pigmentosa10.1
36fundus albipunctatus10.1
37gingivitis10.1
38macular dystrophy10.1
39blindness10.1
40synovitis10.1TIMP1, MMP3
41congenital stationary night blindness, type 1f10.0TIMP3, TIMP1
42gingival overgrowth10.0TIMP1, MMP3
43hypertrophic scars10.0TIMP1, ELN
44arthritis10.0TIMP1, MMP3
45pulmonary emphysema10.0ELN, MMP9
46periodontal disease10.0MMP3, TIMP1
47arthropathy10.0MMP3, TIMP1
48pulmonary disease, chronic obstructive10.0TIMP1, MMP9
49relapsing-remitting multiple sclerosis10.0TIMP1, MMP9
50interstitial lung disease10.0MMP9, TIMP1

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Fundus Dystrophy

Drug clinical trials:

Search ClinicalTrials for Fundus Dystrophy

Search NIH Clinical Center for Fundus Dystrophy

Search CenterWatch for Fundus Dystrophy

Genetic Tests for Fundus Dystrophy

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Sources:
23GTR
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Genetic tests related to Fundus Dystrophy:

id Genetic test Affiliating Genes
1 Retinal Dystrophy23

Anatomical Context for Fundus Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Fundus Dystrophy:

34
Eye, Testes

Animal Models for Fundus Dystrophy or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Fundus Dystrophy:

38
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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Sources:
53PubMed
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Articles related to Fundus Dystrophy:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Ranibizumab for the management of Sorsby fundus dystrophy. (23099917)
2013
2
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. (23023527)
2013
3
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. (22183341)
2012
4
Clinical course and treatment outcomes of Sorsby fundus dystrophy. (18501328)
2008
5
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
6
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). (17433023)
2007
7
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. (18019015)
2007
8
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. (16223891)
2005
9
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. (16259644)
2005
10
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. (12757930)
2003
11
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. (14597066)
2003
12
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. (12942551)
2003
13
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. (15180253)
2003
14
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. (11821400)
2002
15
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
16
A mouse model for Sorsby fundus dystrophy. (12147610)
2002
17
Sorsby's fundus dystrophy. (11486938)
2001
18
Indocyanine green angiography in Sorsby's fundus dystrophy. (10766286)
2000
19
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. (10873973)
2000
20
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. (10711711)
2000
21
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. (10854443)
2000
22
What is Sorsby's fundus dystrophy? (10873972)
2000
23
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. (10396378)
1999
24
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. (10672875)
1999
25
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration? (12482286)
1999
26
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. (9924344)
1998
27
Sorsby's fundus dystrophy. A genetically homogeneous disease]. (9643018)
1998
28
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
29
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. (9642234)
1998
30
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. (9286267)
1997
31
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. (9400791)
1997
32
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
33
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. (8919688)
1996
34
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. (8728699)
1996
35
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. (8634721)
1995
36
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. (7783180)
1995
37
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. (7920634)
1994
38
Recurrent choroidal neovascularization after laser photocoagulation in Sorsby's fundus dystrophy. (7529420)
1994
39
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. (7894485)
1994
40
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. (1559761)
1992
41
Features of Sorsby's fundus dystrophy. (2255509)
1990
42
Pseudoinflammatory fundus dystrophy: a follow-up study. (2387082)
1990
43
Sorsby's fundus dystrophy. A clinical study. (2622621)
1989
44
Sorsby's fundus dystrophy. (2695876)
1989
45
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. (7148944)
1982
46
Bietti's crystalline fundus dystrophy. (677651)
1978
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for genes affiliated with Fundus Dystrophy

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Sources:
51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 5Cell Signaling Technology, 61Thomson Reuters, 56Reactome, 13EMD Millipore
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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
Angiogenesis39
9.5MMP9, TIMP3
4
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
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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Sources:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 3BitterDB
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Compounds related to Fundus Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1uva 1469.8MMP3, TIMP1
2ilomastat469.7MMP9, MMP3
3methyl selenol469.7TIMP1, MMP9
4gelfoam469.6MMP9, ELN
5chondroitin sulfate46 2510.6MMP3, TIMP3, ELN
6tranilast469.6MMP9, TIMP1
7pyridinoline469.5MMP3, ELN, TIMP1
8alginate469.5ELN, MMP3, TIMP1
9nimesulide46 1210.4TIMP1, MMP3
10nobiletin469.4MMP9, TIMP1
11hematoxylin469.3ELN, MMP3, MMP9
12latanoprost46 1210.3TIMP1, MMP9, MMP3
13hydroxamate469.3MMP9, TIMP1, MMP3
14hydroxyproline46 25 1211.3TIMP1, MMP9, ELN
15marimastat46 62 1211.3TIMP1, MMP3, MMP9
16bleomycin46 1210.3ELN, MMP9, TIMP1
17phorbol469.1TIMP1, MMP9, MMP3
18p002469.1MMP3, TIMP1, MMP9
19nifedipine46 30 52 1212.1MMP9, ELN, TIMP1
20cytochalasin d46 6210.1MMP9, MMP3, TIMP1
21egcg469.0TIMP1, MMP9, MMP3
22heparin46 30 25 1212.0MMP3, TIMP3, TIMP1, ELN
231,10-phenanthroline46 39.9MMP3, TIMP3, TIMP1, MMP9
24batimastat46 62 1210.9TIMP3, TIMP1, MMP9, MMP3
25(4-aminophenyl)mercuric acetate468.9ELN, MMP3, MMP9, TIMP1
26doxycycline46 129.9MMP3, ELN, TIMP1, MMP9
27procollagen468.9MMP3, MMP9, TIMP1, ELN
28matrigel468.9TIMP3, TIMP1, MMP9, MMP3
29ribonucleic acid468.9MMP3, MMP9, TIMP1, TIMP3
30hyaluronic acid46 259.9TIMP1, ELN, MMP9, MMP3
3112-o-tetradecanoylphorbol 13-acetate468.9TIMP1, TIMP3, MMP9, MMP3
32curcumin468.9TIMP1, MMP3, MMP9
33methotrexate52 46 1210.9TIMP1, MMP9, MMP3
34chloramphenicol46 3 52 1211.9MMP3, ELN, TIMP1, MMP9
35pd 98,059468.9MMP3, MMP9, TIMP1, TIMP3
36n acetylcysteine468.9ELN, MMP9, TIMP1, MMP3
37vitamin a46 25 1210.8TIMP1, MMP9, RDH5, ELN
38lactate468.8MMP9, ELN, TIMP1, MMP3
39cycloheximide468.7ELN, MMP9, TIMP1, MMP3
40prostaglandin468.6TIMP1, MMP9, MMP3
41glycosaminoglycan468.5ELN, MMP3, MMP9, TIMP1, TIMP3
42tgf beta1468.5MMP3, TIMP3, ELN, TIMP1, MMP9
43paraffin468.5TIMP3, TIMP1, MMP9, MMP3, ELN
44genistein46 30 62 3 25 1213.5TIMP3, TIMP1, MMP9, ELN, MMP3
45dexamethasone46 52 30 1211.5TIMP3, ELN, MMP3, MMP9, TIMP1
46vegf468.5TIMP3, MMP9, TIMP1, MMP3, ELN
47glutamate468.5TIMP1, ELN, MMP3, MMP9, TIMP3
48estrogen468.5ELN, MMP9, MMP3, TIMP3, TIMP1
49retinoic acid46 259.4MMP3, TIMP3, TIMP1, ELN, MMP9
50cysteine468.4MMP3, TIMP3, TIMP1, MMP9, ELN

GO Terms for genes affiliated with Fundus Dystrophy

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17Gene Ontology
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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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  • Antibodies
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  • Lysates
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Sources for Fundus Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet