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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 schnyder corneal dystrophy. An important gene associated with Stromal Dystrophy is DCN (Decorin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. The drugs Dexamethasone acetate and Dexamethasone 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 17)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, congenital stromal 32.2 DCN KERA LUM
2 schnyder corneal dystrophy 32.1 SLC8A3 UBIAD1
3 macular dystrophy, corneal 31.8 CHST6 TGFBI UBIAD1
4 corneal dystrophy, posterior amorphous 31.7 EPYC KERA LUM
5 corneal granular dystrophy 10.3 CHST6 TGFBI
6 epithelial and subepithelial dystrophy 10.3 CHST6 TGFBI
7 epithelial-stromal tgfbi dystrophy 10.3 CHST6 TGFBI
8 corneal dystrophy, avellino type 10.2 CHST6 TGFBI
9 corneal dystrophy, gelatinous drop-like 10.2 CHST6 TGFBI
10 corneal dystrophy, meesmann 10.1 CHST6 TGFBI
11 corneal dystrophy, thiel-behnke type 10.1 CHST6 TGFBI
12 corneal dystrophy, fleck 10.0 PIKFYVE TSC1
13 corneal endothelial dystrophy 10.0 CHST6 TGFBI
14 corneal disease 10.0 CHST6 KERA TGFBI UBIAD1
15 cornea plana 9.9 DCN EPYC KERA LUM
16 corneal dystrophy 9.8 CHST6 DCN PIKFYVE TGFBI UBIAD1
17 keratoconus 9.8

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 DCN EPYC LUM PIKFYVE SCPEP1 SLC8A3
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 acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
3 Peripheral Nervous System Agents Phase 2
4 Anti-Inflammatory Agents Phase 2
5 HIV Protease Inhibitors Phase 2
6 Hormones Phase 2
7
protease inhibitors Phase 2
8 Autonomic Agents Phase 2
9 BB 1101 Phase 2
10 Antineoplastic Agents, Hormonal Phase 2
11 Hormone Antagonists Phase 2
12 Antiemetics Phase 2
13 Gastrointestinal Agents Phase 2
14 glucocorticoids Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
16 Pharmaceutical Solutions 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 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:

42
Eye, Endothelial
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Publications for Stromal Dystrophy

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Articles related to Stromal Dystrophy:

(show all 17)
# 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
Corneal crystalline stromal dystrophy and lipidic metabolism in the dog. ( 18685968 )
2008
7
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. ( 15671264 )
2005
8
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. ( 11864880 )
2002
9
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. ( 11805522 )
2002
10
Annular granular corneal opacity: a rare corneal stromal dystrophy or degeneration? ( 11202916 )
2000
11
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. ( 9924333 )
1998
12
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. ( 9399907 )
1997
13
Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea. ( 6986900 )
1980
14
Congenital hereditary stromal dystrophy of the cornea. ( 350201 )
1978
15
Polymorphic stromal dystrophy. ( 1079457 )
1975
16
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. ( 4557903 )
1972
17
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 67
Show member pathways
 12.37 CHST6 DCN KERA LUM
2
Diseases of glycosylation 67
Show member pathways
 11.6 DCN KERA LUM
3
Keratan sulfate/keratin metabolism 67
Show member pathways
 11.28 CHST6 KERA LUM
4
ECM proteoglycans 67
10.89 DCN LUM MATN4
5
Articular Cartilage Extracellular Matrix Pathway 66
10.36 CHST6 DCN MATN4
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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 extracellular region GO:0005576 9.8 DCN EPYC KERA LUM MATN4 SCPEP1
2 collagen-containing extracellular matrix GO:0062023 9.5 DCN LUM TGFBI
3 Golgi lumen GO:0005796 9.33 DCN KERA LUM
4 lysosomal lumen GO:0043202 9.13 DCN KERA LUM
5 extracellular matrix GO:0031012 9.02 DCN KERA LUM MATN4 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.5 KERA LUM TGFBI
2 myelination GO:0042552 9.37 SLC8A3 TSC1
3 positive regulation of macroautophagy GO:0016239 9.26 DCN TSC1
4 extracellular matrix organization GO:0030198 9.26 DCN LUM MATN4 TGFBI
5 keratan sulfate catabolic process GO:0042340 9.16 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 extracellular matrix binding GO:0050840 9.26 DCN TGFBI
2 glycosaminoglycan binding GO:0005539 9.16 DCN EPYC
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.96 DCN LUM
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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