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MCID: STR086
MIFTS: 29

Stromal Dystrophy

Categories: Eye diseases
Genes Tissues Related diseases Publications Pathways Drugs
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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
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060442
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Summaries for Stromal Dystrophy

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MalaCards based summary : Stromal Dystrophy is related to corneal dystrophy, congenital stromal and macular dystrophy, corneal. An important gene associated with Stromal Dystrophy is DCN (Decorin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Proteoglycans in cancer. The drugs Dexamethasone and Antiemetics have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are homeostasis/metabolism and vision/eye

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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 18)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, congenital stromal 31.8 DCN KERA LUM
2 macular dystrophy, corneal 31.2 CHST6 SULT1C2 TGFBI UBIAD1
3 corneal dystrophy, posterior amorphous 31.0 EPYC KERA LUM
4 schnyder corneal dystrophy 11.1
5 epithelial and subepithelial dystrophy 10.4 CHST6 TGFBI
6 corneal granular dystrophy 10.4 TGFBI UBIAD1
7 epithelial-stromal tgfbi dystrophy 10.4 CHST6 TGFBI
8 corneal dystrophy, gelatinous drop-like 10.3 CHST6 TGFBI
9 corneal dystrophy, meesmann 10.3 CHST6 TGFBI
10 corneal dystrophy, avellino type 10.2 CHST6 SULT1C2 TGFBI
11 corneal dystrophy, thiel-behnke type 10.1 CHST6 TGFBI
12 corneal disease 9.7 CHST6 KERA TGFBI UBIAD1
13 keratoconus 9.6
14 endotheliitis 9.6
15 corneal dystrophy 9.5 CHST6 DCN PIKFYVE TGFBI UBIAD1
16 cornea plana 9.5 DCN EPYC KERA LUM
17 myopia 9.3 DCN EPYC LUM
18 corneal dystrophy, fleck 9.2 AKT3 PIKFYVE RPS17 TSC1

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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MGI Mouse Phenotypes related to Stromal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 AKT3 DCN EPYC LUM PIKFYVE SCPEP1
2 vision/eye MP:0005391 9.1 CHST6 DCN KERA LUM TGFBI TSC1
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Drugs & Therapeutics for Stromal Dystrophy

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Drugs for Stromal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
2 Antiemetics Phase 2
3 Anti-Inflammatory Agents Phase 2
4 Antineoplastic Agents, Hormonal Phase 2
5 Autonomic Agents Phase 2
6 BB 1101 Phase 2
7 Dexamethasone acetate Phase 2 1177-87-3
8 Gastrointestinal Agents Phase 2
9 glucocorticoids Phase 2
10 HIV Protease Inhibitors Phase 2
11 Hormone Antagonists Phase 2
12 Hormones Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Pharmaceutical Solutions Phase 2
16
protease inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
2 Observational Study of Corneal Opacities in Adults Recruiting NCT02109471
3 OCT in Diagnosis of Irregular Corneas Not yet recruiting NCT03504800

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:

41
Eye, Endothelial
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Publications for Stromal Dystrophy

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Articles related to Stromal Dystrophy:

(show all 20)
# Title Authors Year
1
Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy. ( 28611133 )
2017
2
Keratoconus in Patients with Macular Stromal Dystrophy. ( 27455826 )
2016
3
Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? ( 27107055 )
2016
4
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. ( 22870031 )
2012
5
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. ( 21993463 )
2011
6
[TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies]. ( 19062536 )
2008
7
Corneal crystalline stromal dystrophy and lipidic metabolism in the dog. ( 18685968 )
2008
8
In vivo laser confocal microscopic findings of corneal stromal dystrophies. ( 17846354 )
2007
9
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. ( 15671264 )
2005
10
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. ( 11864880 )
2002
11
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. ( 11805522 )
2002
12
Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration? ( 11202916 )
2000
13
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. ( 11262611 )
2000
14
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. ( 9924333 )
1998
15
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. ( 9399907 )
1997
16
Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea. ( 6986900 )
1980
17
Congenital hereditary stromal dystrophy of the cornea. ( 350201 )
1978
18
Polymorphic stromal dystrophy. ( 1079457 )
1975
19
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. ( 4557903 )
1972
20
Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. ( 4537849 )
1972
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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 66
Show member pathways
 12.42 CHST6 DCN KERA LUM
2
Proteoglycans in cancer 37
11.74 AKT3 DCN LUM
3
Diseases of glycosylation 66
Show member pathways
 11.5 DCN KERA LUM
4
Articular Cartilage Extracellular Matrix Pathway 65
10.88 CHST6 DCN
5
Keratan sulfate/keratin metabolism 66
Show member pathways
 10.74 CHST6 KERA LUM
6
Defective ST3GAL3 causes MCT12 and EIEE15 66
Show member pathways
 10.28 KERA LUM
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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 Golgi lumen GO:0005796 9.13 DCN KERA LUM
2 lysosomal lumen GO:0043202 8.8 DCN KERA LUM

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 9.54 DCN LUM TGFBI
2 visual perception GO:0007601 9.5 KERA LUM TGFBI
3 axonogenesis GO:0007409 9.33 EPYC KERA LUM
4 positive regulation of macroautophagy GO:0016239 9.26 DCN TSC1
5 keratan sulfate catabolic process GO:0042340 8.96 KERA LUM
6 keratan sulfate biosynthetic process GO:0018146 8.8 CHST6 KERA LUM

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

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 9.26 CHST6 SULT1C2
2 extracellular matrix binding GO:0050840 9.16 DCN TGFBI
3 glycosaminoglycan binding GO:0005539 8.96 DCN EPYC
4 collagen binding GO:0005518 8.8 DCN LUM TGFBI
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Sources for Stromal Dystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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