MCID: STR086
MIFTS: 29

Stromal Dystrophy

Categories: Eye 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

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 endothelial and eye, and related phenotypes are homeostasis/metabolism and vision/eye

Related Diseases for Stromal Dystrophy

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:

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

Drugs & Therapeutics for Stromal Dystrophy

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 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
6 Pharmaceutical Solutions Phase 2
7 Gastrointestinal Agents Phase 2
8 Antiemetics Phase 2
9 glucocorticoids Phase 2
10 Autonomic Agents Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12
protease inhibitors Phase 2
13 HIV Protease Inhibitors Phase 2
14 BB 1101 Phase 2
15 Hormone Antagonists Phase 2
16 Hormones 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

Genetic Tests for Stromal Dystrophy

Anatomical Context for Stromal Dystrophy

MalaCards organs/tissues related to Stromal Dystrophy:

42
Endothelial, Eye

Publications for Stromal Dystrophy

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 )
2018
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
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. ( 11805522 )
2002
9
Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty. ( 11864880 )
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. I. Clinical features of a family with hyperlipoproteinaemia. ( 4537849 )
1972
17
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. ( 4557903 )
1972

Variations for Stromal Dystrophy

Expression for Stromal Dystrophy

Search GEO for disease gene expression data for Stromal Dystrophy.

Pathways for Stromal Dystrophy

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 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

Sources for Stromal Dystrophy

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
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