MCID: STR086
MIFTS: 26

Stromal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Stromal Dystrophy

MalaCards integrated aliases for Stromal Dystrophy:

Name: Stromal Dystrophy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060442

Summaries for Stromal Dystrophy

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

MalaCards based summary : Stromal Dystrophy is related to schnyder corneal dystrophy and stromal corneal dystrophy. An important gene associated with Stromal Dystrophy is DCN (Decorin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include endothelial, eye and skin, and related phenotype is vision/eye.

Related Diseases for Stromal Dystrophy

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 schnyder corneal dystrophy 33.2 UBIAD1 KRT12 GRIK1
2 stromal corneal dystrophy 32.8 UBIAD1 TGFBI PIKFYVE DCN
3 corneal dystrophy, congenital stromal 32.6 MIR138-1 LUM LINC00615 KERA FMOD EPYC
4 corneal dystrophy, fleck 31.6 TBCD SLC4A11 PIKFYVE DEPDC5 COL8A2
5 corneal dystrophy, posterior amorphous 31.6 LUM LINC00615 KERA FMOD EPYC DCN
6 macular dystrophy, corneal 31.2 UBIAD1 TGFBI SLC4A11 LUM KRT12 KERA
7 lattice corneal dystrophy 30.3 TGFBI TBCD KRT12 CHST6
8 corneal dystrophy, avellino type 29.9 TGFBI TBCD KRT12 COL8A2 CHST6
9 corneal deposit 29.7 UBIAD1 TGFBI TBCD KRT12 CHST6
10 recurrent corneal erosion 29.6 TGFBI TBCD KRT12 COL8A2 CHST6
11 granular corneal dystrophy 29.5 UBIAD1 TGFBI TBCD SLC4A11 KRT12 COL8A2
12 keratoconus 29.5 TGFBI SLC4A11 KRT12 KERA COL8A2
13 corneal disease 28.9 UBIAD1 TGFBI SLC4A11 LUM KRT12 KERA
14 corneal endothelial dystrophy 28.9 UBIAD1 TGFBI TBCD SLC4A11 KRT12 COL8A2
15 corneal dystrophy 28.8 UBIAD1 TGFBI TBCD SLC4A11 PIKFYVE LUM
16 interstitial keratitis 10.3 TGFBI DCN COL8A2
17 ocular hyperemia 10.3 TGFBI CHST5
18 blepharochalasis 10.3 COL8A2 CHST5
19 corneal dystrophy, endothelial, x-linked 10.3 SLC4A11 COL8A2
20 secondary corneal edema 10.3 SLC4A11 COL8A2
21 pseudopterygium 10.3 SLC4A11 KRT12
22 corneal dystrophy, posterior polymorphous, 2 10.3 SLC4A11 COL8A2
23 corneal dystrophy, posterior polymorphous, 3 10.2 UBIAD1 SLC4A11 COL8A2
24 brittle cornea syndrome 2 10.2 SLC4A11 DCN COL8A2
25 corneal edema 10.2 SLC4A11 KERA COL8A2
26 tyrosinemia, type ii 10.2 KRT12 CHST6
27 corneal dystrophy, band-shaped 10.2 SLC4A11 COL8A2
28 corneal ectasia 10.2 KERA COL8A2
29 corneal dystrophy, subepithelial mucinous 10.2 TBCD KRT12
30 epithelial basement membrane dystrophy 10.1 TGFBI TBCD COL8A2 CHST6
31 fuchs' endothelial dystrophy 10.0 TGFBI SLC4A11 KERA COL8A2 CHST6
32 corneal dystrophy, reis-bucklers type 10.0 UBIAD1 TGFBI TBCD KRT12 CHST6
33 corneal dystrophy, lisch epithelial 10.0 UBIAD1 TBCD KRT12 CHST6 CHST5
34 irregular astigmatism 10.0 TGFBI SLC4A11 KRT12 KERA COL8A2
35 epithelial-stromal tgfbi dystrophy 9.9 TGFBI TBCD KRT12 COL8A2 CHST6
36 corneal dystrophy and perceptive deafness 9.9 SLC4A11 COL8A2
37 corneal dystrophy, groenouw type i 9.9 UBIAD1 TGFBI TBCD KRT12 CHST6 CHST5
38 corneal dystrophy, thiel-behnke type 9.9 UBIAD1 TGFBI TBCD KRT12 COL8A2 CHST6
39 corneal dystrophy, gelatinous drop-like 9.9 UBIAD1 TGFBI TBCD KRT12 COL8A2 CHST6
40 corneal dystrophy, meesmann, 1 9.9 UBIAD1 TGFBI TBCD KRT12 COL8A2 CHST6
41 corneal dystrophy, posterior polymorphous, 1 9.8 UBIAD1 TGFBI SLC4A11 KRT12 COL8A2 CHST6
42 myopia 9.8 LUM FMOD EPYC DCN
43 cornea plana 9.8 LUM LINC00615 KERA FMOD EPYC DCN
44 trachoma 9.8
45 47,xyy 9.8
46 corneal degeneration 9.7 UBIAD1 TGFBI TBCD SLC4A11 KRT12 COL8A2
47 epithelial and subepithelial dystrophy 9.7 UBIAD1 TGFBI TBCD SLC4A11 KRT12 COL8A2

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



Diseases related to Stromal Dystrophy

Symptoms & Phenotypes for Stromal Dystrophy

MGI Mouse Phenotypes related to Stromal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 CHST6 COL8A2 DCN FMOD KERA KRT12

Drugs & Therapeutics for Stromal Dystrophy

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

Genetic Tests for Stromal Dystrophy

Anatomical Context for Stromal Dystrophy

MalaCards organs/tissues related to Stromal Dystrophy:

40
Endothelial, Eye, Skin

Publications for Stromal Dystrophy

Articles related to Stromal Dystrophy:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. 61
32205123 2020
2
Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. 61
31799478 2019
3
Corneal biomechanics and intraocular pressure assessment after penetrating keratoplasty for non keratoconic patients, long term results. 61
31391006 2019
4
Recurrent corneal erosion: a comprehensive review. 61
30809089 2019
5
Macular corneal dystrophy: A review. 61
29604391 2018
6
Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy. 61
28611133 2018
7
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
8
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. 61
28302098 2017
9
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. 61
28234994 2017
10
Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? 61
27107055 2016
11
Changing indications and techniques for corneal transplantations at a tertiary referral center in Turkey, from 1995 to 2014. 61
27330270 2016
12
Keratoconus in Patients with Macular Stromal Dystrophy. 61
27455826 2016
13
Prevalence and histopathological characteristics of corneal stromal dystrophies in Saudi Arabia. 61
25949075 2015
14
Granular corneal dystrophy: a novel approach to classification and treatment. 61
24413275 2014
15
Graft survival and visual outcome after simultaneous penetrating keratoplasty and cataract extraction. 61
23826538 2013
16
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. 61
22870031 2012
17
Outcomes of deep anterior lamellar keratoplasty following successful and failed 'big bubble'. 61
22133987 2012
18
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
19
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. 61
21993463 2011
20
[Perspectives of deep anterior lamellar keratoplasty]. 61
21909871 2011
21
Decorin biology, expression, function and therapy in the cornea. 61
21342131 2011
22
TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients. 61
19948560 2010
23
Outcome of primary adult optical penetrating keratoplasty with imported donor corneas. 61
19165422 2010
24
Major shifts in corneal transplantation procedures in north China: 5316 eyes over 12 years. 61
19556213 2009
25
Outcome of primary adult penetrating keratoplasty in a Saudi Arabian population. 61
19654527 2009
26
Postoperative complications after primary adult optical penetrating keratoplasty: prevalence and impact on graft survival. 61
19411956 2009
27
Corneal crystalline stromal dystrophy and lipidic metabolism in the dog. 61
18685968 2008
28
Staged automated lamellar keratoplasty for anterior stromal corneal dystrophies. 61
18556939 2008
29
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 61
18079684 2007
30
Congenital corneal opacities: a review with a focus on genetics. 61
18097987 2007
31
Histopathologic study of corneal stromal dystrophies: a 10-year experience. 61
17893527 2007
32
[Femtosecond-assisted anterior lamellar keratoplasty]. 61
17878821 2007
33
Deep Anterior Lamellar Keratoplasty (DALK): visual outcome and complications for a heterogeneous group of corneal pathologies. 61
17198015 2007
34
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 61
18427622 2007
35
Repeat penetrating keratoplasty: indications, graft survival, and visual outcome. 61
16488955 2006
36
Influence of interleukin-1alpha and tumor necrosis factor-alpha production on corneal graft survival. 61
16489698 2006
37
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. 61
15671264 2005
38
Risk factors for corneal regraft in patients on the French waiting list. 61
15448497 2004
39
Central discoid corneal dystrophy. 61
12410027 2002
40
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61
12447720 2002
41
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. 61
11864880 2002
42
Ocular lipid deposition and hyperlipoproteinaemia. 61
12062534 2002
43
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. 61
11805522 2002
44
Profile of cytokines in aqueous humor from corneal graft recipients. 61
11740849 2001
45
[Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation]. 61
11692612 2001
46
Treatment of recalcitrant recurrent corneal erosions with inhibitors of matrix metalloproteinase-9, doxycycline and corticosteroids. 61
11438047 2001
47
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 61
11024425 2000
48
Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration? 61
11202916 2000
49
Keratocyte apoptosis associated with keratoconus. 61
10548467 1999
50
Confocal microscopy in Bowman and stromal corneal dystrophies. 61
10485537 1999

Variations for Stromal Dystrophy

Expression for Stromal Dystrophy

Search GEO for disease gene expression data for Stromal Dystrophy.

Pathways for Stromal Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 LUM KERA FMOD DCN CHST6 CHST5
2
Show member pathways
12.21 LUM KERA FMOD DCN
3
Show member pathways
11.79 LUM KERA FMOD DCN
4 11.3 LUM FMOD DCN
5
Show member pathways
10.97 LUM KERA FMOD CHST6 CHST5
6 10.81 FMOD DCN CHST6 CHST5
7
Show member pathways
10.65 LUM KERA FMOD

GO Terms for Stromal Dystrophy

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 9.65 TGFBI LUM FMOD DCN COL8A2
2 Golgi lumen GO:0005796 9.46 LUM KERA FMOD DCN
3 vesicle membrane GO:0012506 9.32 SLC4A11 PIKFYVE
4 lysosomal lumen GO:0043202 9.26 LUM KERA FMOD DCN
5 extracellular matrix GO:0031012 9.17 TGFBI LUM KERA FMOD EPYC DCN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 TGFBI LUM DCN COL8A2
2 visual perception GO:0007601 9.46 TGFBI LUM KRT12 KERA
3 N-acetylglucosamine metabolic process GO:0006044 9.37 CHST6 CHST5
4 sulfur compound metabolic process GO:0006790 9.32 CHST6 CHST5
5 keratan sulfate catabolic process GO:0042340 9.13 LUM KERA FMOD
6 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 9.43 TGFBI LUM COL8A2
2 extracellular matrix binding GO:0050840 9.37 TGFBI DCN
3 collagen binding GO:0005518 9.33 TGFBI LUM DCN
4 glycosaminoglycan binding GO:0005539 9.32 EPYC DCN
5 N-acetylglucosamine 6-O-sulfotransferase activity GO:0001517 8.96 CHST6 CHST5
6 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.8 LUM FMOD DCN

Sources for Stromal Dystrophy

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
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