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MCID: STR086
MIFTS: 28

Stromal Dystrophy

Categories: Eye diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Stromal Dystrophy

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MalaCards integrated aliases for Stromal Dystrophy:

Name: Stromal Dystrophy 12 15

Classifications:

MalaCards categories:
Anatomical: Eye diseases
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External Ids:

Disease Ontology 12 DOID:0060442
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Summaries for Stromal Dystrophy

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Disease Ontology : 12 A corneal dystrophy that affects the corneal stroma.

MalaCards based summary : Stromal Dystrophy is related to stromal corneal dystrophy and schnyder corneal dystrophy. An important gene associated with Stromal Dystrophy is DCN (Decorin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Degradation of the extracellular matrix. Affiliated tissues include endothelial, eye and skin, and related phenotypes are Decreased viability and no effect

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Related Diseases for Stromal Dystrophy

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 stromal corneal dystrophy 32.8 UBIAD1 TGFBI PIKFYVE DCN
2 schnyder corneal dystrophy 32.7 UBIAD1 TGFBI KRT3 KRT12 C1orf127
3 corneal dystrophy, congenital stromal 32.2 LUM LINC00615 KERA FMOD EPYC DCN
4 corneal dystrophy, posterior amorphous 31.5 LUM LINC00615 KERA FMOD EPYC DCN
5 macular dystrophy, corneal 31.4 UBIAD1 TGFBI LUM KRT3 KRT12 KERA
6 lattice corneal dystrophy 30.3 TGFBI TBCD KRT12 CHST6
7 granular corneal dystrophy 30.0 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
8 corneal dystrophy, avellino type 29.8 UBIAD1 TGFBI TBCD KRT3 COL8A2 CHST6
9 corneal deposit 29.7 UBIAD1 TGFBI TBCD KRT3 CHST6
10 recurrent corneal erosion 29.4 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
11 keratoconus 29.3 TGFBI SLC4A11 KRT3 KRT12 KERA COL8A2
12 corneal endothelial dystrophy 28.8 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
13 corneal disease 28.7 UBIAD1 TGFBI SLC4A11 LUM KRT3 KRT12
14 corneal dystrophy 28.6 UBIAD1 TGFBI TBCD SLC4A11 PIKFYVE LUM
15 interstitial keratitis 10.4 TGFBI DCN
16 blepharochalasis 10.4 COL8A2 CHST5
17 secondary corneal edema 10.4 SLC4A11 COL8A2
18 corneal dystrophy, posterior polymorphous, 2 10.3 SLC4A11 COL8A2
19 corneal dystrophy, endothelial, x-linked 10.3 SLC4A11 COL8A2
20 epithelial basement membrane dystrophy 10.3 TGFBI TBCD CHST6
21 corneal ectasia 10.3 TGFBI KERA COL8A2
22 corneal dystrophy, posterior polymorphous, 3 10.3 UBIAD1 SLC4A11 COL8A2
23 brittle cornea syndrome 2 10.3 SLC4A11 DCN COL8A2
24 corneal dystrophy, band-shaped 10.2 SLC4A11 COL8A2
25 limbal stem cell deficiency 10.2 KRT3 KRT12
26 pseudopterygium 10.2 SLC4A11 KRT3 KRT12
27 keratitis, hereditary 10.2 KRT3 KRT12 KERA
28 charcot-marie-tooth disease, type 4j 10.0 VAC14 PIKFYVE
29 cornea plana 10.0 LUM LINC00615 KERA FMOD EPYC DCN
30 myopia 10.0 LUM FMOD EPYC DCN
31 irregular astigmatism 9.9 TGFBI SLC4A11 KRT3 KRT12 COL8A2
32 yunis-varon syndrome 9.9 VAC14 PIKFYVE
33 corneal dystrophy, reis-bucklers type 9.9 UBIAD1 TGFBI TBCD KRT3 KRT12 CHST6
34 corneal dystrophy, lisch epithelial 9.9 UBIAD1 TBCD KRT3 KRT12 CHST6 CHST5
35 corneal edema 9.8 TGFBI SLC4A11 KRT3 KRT12 KERA COL8A2
36 corneal dystrophy, fleck 9.8 VAC14 TGFBI TBCD SLC4A11 PIKFYVE COL8A2
37 epithelial-stromal tgfbi dystrophy 9.8 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
38 trachoma 9.8
39 47,xyy 9.8
40 corneal dystrophy, thiel-behnke type 9.7 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
41 corneal dystrophy, gelatinous drop-like 9.7 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
42 corneal dystrophy, meesmann, 1 9.7 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
43 fuchs' endothelial dystrophy 9.7 TGFBI SLC4A11 KRT3 KRT12 KERA COL8A2
44 corneal dystrophy, posterior polymorphous, 1 9.7 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
45 epithelial and subepithelial dystrophy 9.6 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
46 corneal degeneration 9.5 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12

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



Diseases related to Stromal Dystrophy
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Symptoms & Phenotypes for Stromal Dystrophy

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GenomeRNAi Phenotypes related to Stromal Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00402-S-2 9.96 BGN C1orf127 CCER1 CHST5 CHST6 COL8A2
2 no effect GR00402-S-1 9.62 BGN C1orf127 CCER1 CHST5 CHST6 COL8A2

MGI Mouse Phenotypes related to Stromal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 BGN C1orf127 COL8A2 DCN FMOD LUM
2 vision/eye MP:0005391 9.32 CHST6 COL8A2 DCN FMOD KERA KRT12
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Drugs & Therapeutics for Stromal Dystrophy

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observational Study of Corneal Opacities in Adults Recruiting NCT02109471

Search NIH Clinical Center for Stromal Dystrophy

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Genetic Tests for Stromal Dystrophy

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Anatomical Context for Stromal Dystrophy

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MalaCards organs/tissues related to Stromal Dystrophy:

40
Endothelial, Eye, Skin
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Publications for Stromal Dystrophy

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Articles related to Stromal Dystrophy:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. 61
31799478 2019
2
Corneal biomechanics and intraocular pressure assessment after penetrating keratoplasty for non keratoconic patients, long term results. 61
31391006 2019
3
Recurrent corneal erosion: a comprehensive review. 61
30809089 2019
4
Macular corneal dystrophy: A review. 61
29604391 2018
5
Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy. 61
28611133 2018
6
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
7
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. 61
28302098 2017
8
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. 61
28234994 2017
9
Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? 61
27107055 2016
10
Keratoconus in Patients with Macular Stromal Dystrophy. 61
27455826 2016
11
Changing indications and techniques for corneal transplantations at a tertiary referral center in Turkey, from 1995 to 2014. 61
27330270 2016
12
Prevalence and histopathological characteristics of corneal stromal dystrophies in Saudi Arabia. 61
25949075 2015
13
Granular corneal dystrophy: a novel approach to classification and treatment. 61
24413275 2014
14
Graft survival and visual outcome after simultaneous penetrating keratoplasty and cataract extraction. 61
23826538 2013
15
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. 61
22870031 2012
16
Outcomes of deep anterior lamellar keratoplasty following successful and failed 'big bubble'. 61
22133987 2012
17
Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies. 61
22876117 2012
18
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. 61
21993463 2011
19
[Perspectives of deep anterior lamellar keratoplasty]. 61
21909871 2011
20
Decorin biology, expression, function and therapy in the cornea. 61
21342131 2011
21
TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients. 61
19948560 2010
22
Outcome of primary adult optical penetrating keratoplasty with imported donor corneas. 61
19165422 2010
23
Major shifts in corneal transplantation procedures in north China: 5316 eyes over 12 years. 61
19556213 2009
24
Outcome of primary adult penetrating keratoplasty in a Saudi Arabian population. 61
19654527 2009
25
Postoperative complications after primary adult optical penetrating keratoplasty: prevalence and impact on graft survival. 61
19411956 2009
26
Corneal crystalline stromal dystrophy and lipidic metabolism in the dog. 61
18685968 2008
27
Staged automated lamellar keratoplasty for anterior stromal corneal dystrophies. 61
18556939 2008
28
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 61
18079684 2007
29
Histopathologic study of corneal stromal dystrophies: a 10-year experience. 61
17893527 2007
30
Congenital corneal opacities: a review with a focus on genetics. 61
18097987 2007
31
[Femtosecond-assisted anterior lamellar keratoplasty]. 61
17878821 2007
32
Deep Anterior Lamellar Keratoplasty (DALK): visual outcome and complications for a heterogeneous group of corneal pathologies. 61
17198015 2007
33
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 61
18427622 2007
34
Repeat penetrating keratoplasty: indications, graft survival, and visual outcome. 61
16488955 2006
35
Influence of interleukin-1alpha and tumor necrosis factor-alpha production on corneal graft survival. 61
16489698 2006
36
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. 61
15671264 2005
37
Risk factors for corneal regraft in patients on the French waiting list. 61
15448497 2004
38
Central discoid corneal dystrophy. 61
12410027 2002
39
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61
12447720 2002
40
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. 61
11864880 2002
41
Ocular lipid deposition and hyperlipoproteinaemia. 61
12062534 2002
42
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. 61
11805522 2002
43
Profile of cytokines in aqueous humor from corneal graft recipients. 61
11740849 2001
44
[Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation]. 61
11692612 2001
45
Treatment of recalcitrant recurrent corneal erosions with inhibitors of matrix metalloproteinase-9, doxycycline and corticosteroids. 61
11438047 2001
46
Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration? 61
11202916 2000
47
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 61
11024425 2000
48
Keratocyte apoptosis associated with keratoconus. 61
10548467 1999
49
Confocal microscopy in Bowman and stromal corneal dystrophies. 61
10485537 1999
50
[Photo-therapeutic keratectomy (PTK)--a successful treatment for Thiel-Behnke dystrophy and its recurrence]. 61
10509078 1999
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Variations for Stromal Dystrophy

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Expression for Stromal Dystrophy

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Search GEO for disease gene expression data for Stromal Dystrophy.
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Pathways for Stromal Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Glycosaminoglycan metabolism 65
Show member pathways
 12.62 LUM KERA FMOD DCN CHST6 CHST5
2
Degradation of the extracellular matrix 65
Show member pathways
 12.48 LUM FMOD DCN COL8A2 BGN
3
Chondroitin sulfate/dermatan sulfate metabolism 65
Show member pathways
 12.31 LUM KERA FMOD DCN BGN
4
Diseases of glycosylation 65
Show member pathways
 11.72 LUM KERA FMOD DCN BGN
5
ECM proteoglycans 65
11.31 LUM FMOD DCN BGN
6
Keratan sulfate/keratin metabolism 65
Show member pathways
 11.3 LUM KERA FMOD CHST6 CHST5
7
Defective ST3GAL3 causes MCT12 and EIEE15 65
Show member pathways
 10.87 LUM KERA FMOD
8
Articular Cartilage Extracellular Matrix Pathway 64
10.58 FMOD DCN CHST6 CHST5 BGN
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GO Terms for Stromal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.73 TGFBI LUM FMOD DCN COL8A2 BGN
2 Golgi lumen GO:0005796 9.55 LUM KERA FMOD DCN BGN
3 lysosomal lumen GO:0043202 9.35 LUM KERA FMOD DCN BGN
4 extracellular matrix GO:0031012 9.23 TGFBI LUM KERA FMOD EPYC DCN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 TGFBI LUM KRT12 KERA
2 extracellular matrix organization GO:0030198 9.55 TGFBI LUM DCN COL8A2 BGN
3 chondroitin sulfate biosynthetic process GO:0030206 9.49 DCN BGN
4 N-acetylglucosamine metabolic process GO:0006044 9.48 CHST6 CHST5
5 sulfur compound metabolic process GO:0006790 9.46 CHST6 CHST5
6 chondroitin sulfate catabolic process GO:0030207 9.43 DCN BGN
7 dermatan sulfate biosynthetic process GO:0030208 9.4 DCN BGN
8 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.32 DCN BGN
9 articular cartilage development GO:0061975 9.26 EPYC BGN
10 keratan sulfate catabolic process GO:0042340 9.13 LUM KERA FMOD
11 keratan sulfate biosynthetic process GO:0018146 9.02 LUM KERA FMOD CHST6 CHST5

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.56 TGFBI LUM COL8A2 BGN
2 collagen binding GO:0005518 9.54 TGFBI LUM DCN
3 extracellular matrix binding GO:0050840 9.33 TGFBI DCN BGN
4 N-acetylglucosamine 6-O-sulfotransferase activity GO:0001517 9.32 CHST6 CHST5
5 glycosaminoglycan binding GO:0005539 9.13 EPYC DCN BGN
6 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.92 LUM FMOD DCN BGN
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Sources for Stromal Dystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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