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 corneal dystrophy, posterior amorphous. 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 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 45)
# Related Disease Score Top Affiliating Genes
1 schnyder corneal dystrophy 32.3 UBIAD1 TGFBI KRT3 KRT12
2 corneal dystrophy, posterior amorphous 31.8 LUM LINC00615 KERA FMOD EPYC DCN
3 corneal dystrophy, congenital stromal 31.5 MIR138-1 MIR136 LUM LINC00615 KERA FMOD
4 corneal dystrophy, fleck 31.5 SLC4A11 PIKFYVE DEPDC5 COL8A2
5 macular dystrophy, corneal 30.9 UBIAD1 TGFBI LUM KRT3 KRT12 KERA
6 stromal corneal dystrophy 30.0 UBIAD1 TGFBI PIKFYVE DCN
7 corneal dystrophy, avellino type 29.7 TGFBI KRT3 KRT12 CHST6
8 recurrent corneal erosion 29.6 TGFBI KRT3 KRT12 COL8A2 CHST6
9 granular corneal dystrophy 29.5 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
10 keratoconus 29.3 TGFBI SLC4A11 KRT3 KRT12 KERA COL8A2
11 corneal endothelial dystrophy 29.1 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
12 corneal dystrophy 28.9 UBIAD1 TGFBI SLC4A11 PIKFYVE LUM KRT3
13 ocular hyperemia 10.2 TGFBI CHST5
14 interstitial keratitis 10.2 TGFBI DCN COL8A2
15 blepharochalasis 10.2 COL8A2 CHST5
16 secondary corneal edema 10.2 SLC4A11 COL8A2
17 corneal dystrophy, endothelial, x-linked 10.2 SLC4A11 COL8A2
18 corneal dystrophy, posterior polymorphous, 3 10.2 UBIAD1 SLC4A11 COL8A2
19 corneal dystrophy, posterior polymorphous, 2 10.2 SLC4A11 COL8A2
20 corneal dystrophy and perceptive deafness 10.1 SLC4A11 COL8A2
21 corneal ectasia 10.1 TGFBI KRT3 KERA COL8A2
22 limbal stem cell deficiency 10.1 KRT3 KRT12
23 epithelial basement membrane dystrophy 10.1 TGFBI KRT3 KRT12 CHST6
24 corneal dystrophy, groenouw type i 10.1 UBIAD1 TGFBI KRT12 CHST6 CHST5
25 anterior segment dysgenesis 10.0 TGFBI KRT12 KERA COL8A2
26 pseudopterygium 10.0 SLC4A11 KRT3 KRT12
27 lattice corneal dystrophy 10.0 TGFBI KRT3 KRT12 CHST6
28 tyrosinemia, type ii 10.0 KRT3 KRT12 COL8A2 CHST6
29 corneal deposit 10.0 UBIAD1 TGFBI KRT3 KRT12 CHST6
30 corneal dystrophy, reis-bucklers type 10.0 UBIAD1 TGFBI KRT3 KRT12 CHST6
31 corneal dystrophy, thiel-behnke type 10.0 UBIAD1 TGFBI KRT3 KRT12 CHST6
32 corneal dystrophy, lisch epithelial 10.0 UBIAD1 KRT3 KRT12 CHST6 CHST5
33 cornea plana 10.0 LUM LINC00615 KERA FMOD EPYC DCN
34 corneal edema 9.9 TGFBI SLC4A11 KRT3 KERA COL8A2
35 corneal ulcer 9.9 KRT3 KERA
36 corneal dystrophy, gelatinous drop-like 9.9 UBIAD1 TGFBI KRT3 KRT12 COL8A2 CHST6
37 corneal dystrophy, meesmann, 1 9.9 UBIAD1 TGFBI KRT3 KRT12 COL8A2 CHST6
38 myopia 9.9 LUM FMOD EPYC DCN
39 irregular astigmatism 9.8 TGFBI SLC4A11 KRT3 KRT12 KERA COL8A2
40 epithelial and subepithelial dystrophy 9.8 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
41 epithelial-stromal tgfbi dystrophy 9.7 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
42 corneal dystrophy, posterior polymorphous, 1 9.7 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
43 corneal degeneration 9.7 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 KERA
44 fuchs' endothelial dystrophy 9.6 UBIAD1 TGFBI SLC4A11 LUM KRT3 KERA
45 corneal disease 9.5 UBIAD1 TGFBI SLC4A11 LUM KRT3 KRT12

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:

46
# 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, Skin

Publications for Stromal Dystrophy

Articles related to Stromal Dystrophy:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. 61
32205123 2020
2
Recurrence of macular corneal dystrophy on the graft 50 years after penetrating keratoplasty. 61
32884888 2020
3
Schnyder Corneal Dystrophy: A Rare Case Report. 61
32799247 2020
4
Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. 61
31799478 2019
5
Corneal biomechanics and intraocular pressure assessment after penetrating keratoplasty for non keratoconic patients, long term results. 61
31391006 2019
6
Recurrent corneal erosion: a comprehensive review. 61
30809089 2019
7
Macular corneal dystrophy: A review. 61
29604391 2018
8
Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy. 61
28611133 2018
9
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
10
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report. 61
28302098 2017
11
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. 61
28234994 2017
12
Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? 61
27107055 2016
13
Changing indications and techniques for corneal transplantations at a tertiary referral center in Turkey, from 1995 to 2014. 61
27330270 2016
14
Keratoconus in Patients with Macular Stromal Dystrophy. 61
27455826 2016
15
Prevalence and histopathological characteristics of corneal stromal dystrophies in Saudi Arabia. 61
25949075 2015
16
Granular corneal dystrophy: a novel approach to classification and treatment. 61
24413275 2014
17
Graft survival and visual outcome after simultaneous penetrating keratoplasty and cataract extraction. 61
23826538 2013
18
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. 61
22870031 2012
19
Outcomes of deep anterior lamellar keratoplasty following successful and failed 'big bubble'. 61
22133987 2012
20
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
21
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. 61
21993463 2011
22
[Perspectives of deep anterior lamellar keratoplasty]. 61
21909871 2011
23
Decorin biology, expression, function and therapy in the cornea. 61
21342131 2011
24
TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients. 61
19948560 2010
25
Outcome of primary adult optical penetrating keratoplasty with imported donor corneas. 61
19165422 2010
26
Major shifts in corneal transplantation procedures in north China: 5316 eyes over 12 years. 61
19556213 2009
27
Outcome of primary adult penetrating keratoplasty in a Saudi Arabian population. 61
19654527 2009
28
Postoperative complications after primary adult optical penetrating keratoplasty: prevalence and impact on graft survival. 61
19411956 2009
29
Corneal crystalline stromal dystrophy and lipidic metabolism in the dog. 61
18685968 2008
30
Staged automated lamellar keratoplasty for anterior stromal corneal dystrophies. 61
18556939 2008
31
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 61
18079684 2007
32
Congenital corneal opacities: a review with a focus on genetics. 61
18097987 2007
33
Histopathologic study of corneal stromal dystrophies: a 10-year experience. 61
17893527 2007
34
[Femtosecond-assisted anterior lamellar keratoplasty]. 61
17878821 2007
35
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 61
18427622 2007
36
Deep Anterior Lamellar Keratoplasty (DALK): visual outcome and complications for a heterogeneous group of corneal pathologies. 61
17198015 2007
37
Repeat penetrating keratoplasty: indications, graft survival, and visual outcome. 61
16488955 2006
38
Influence of interleukin-1alpha and tumor necrosis factor-alpha production on corneal graft survival. 61
16489698 2006
39
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. 61
15671264 2005
40
Risk factors for corneal regraft in patients on the French waiting list. 61
15448497 2004
41
Central discoid corneal dystrophy. 61
12410027 2002
42
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61
12447720 2002
43
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. 61
11864880 2002
44
Ocular lipid deposition and hyperlipoproteinaemia. 61
12062534 2002
45
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. 61
11805522 2002
46
Profile of cytokines in aqueous humor from corneal graft recipients. 61
11740849 2001
47
[Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation]. 61
11692612 2001
48
Treatment of recalcitrant recurrent corneal erosions with inhibitors of matrix metalloproteinase-9, doxycycline and corticosteroids. 61
11438047 2001
49
Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration? 61
11202916 2000
50
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 61
11024425 2000

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 9.62 TGFBI LUM DCN COL8A2
2 visual perception GO:0007601 9.46 TGFBI LUM KRT12 KERA
3 N-acetylglucosamine metabolic process GO:0006044 9.4 CHST6 CHST5
4 sulfur compound metabolic process GO:0006790 9.37 CHST6 CHST5
5 cornea development in camera-type eye GO:0061303 9.26 KRT12 KERA
6 keratan sulfate catabolic process GO:0042340 9.13 LUM KERA FMOD
7 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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