MCID: STR111
MIFTS: 20

Stromal Corneal Dystrophy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stromal Corneal Dystrophy

MalaCards integrated aliases for Stromal Corneal Dystrophy:

Name: Stromal Corneal Dystrophy 58
Stromal Dystrophies Corneal 54

Characteristics:

Orphanet epidemiological data:

58
stromal corneal dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0038457
Orphanet 58 ORPHA98626

Summaries for Stromal Corneal Dystrophy

MalaCards based summary : Stromal Corneal Dystrophy, also known as stromal dystrophies corneal, is related to schnyder corneal dystrophy and macular dystrophy, corneal. An important gene associated with Stromal Corneal Dystrophy is DCN (Decorin). Affiliated tissues include eye and endothelial, and related phenotype is cellular.

Related Diseases for Stromal Corneal Dystrophy

Diseases in the Stromal Corneal Dystrophy family:

Corneal Dystrophy, Congenital Stromal

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 schnyder corneal dystrophy 31.8 UBIAD1 TGFBI
2 macular dystrophy, corneal 31.7 UBIAD1 TGFBI DCN
3 corneal dystrophy, fleck 31.1 TGFBI PIKFYVE
4 corneal dystrophy, thiel-behnke type 29.6 UBIAD1 TGFBI
5 corneal degeneration 29.6 UBIAD1 TGFBI
6 corneal dystrophy, avellino type 29.5 UBIAD1 TGFBI
7 corneal disease 29.1 UBIAD1 TGFBI DCN
8 corneal dystrophy 29.1 UBIAD1 TGFBI PIKFYVE DCN
9 stromal dystrophy 28.5 UBIAD1 TGFBI PIKFYVE DCN
10 corneal dystrophy, congenital stromal 12.6
11 corneal dystrophy, groenouw type i 11.4
12 granular corneal dystrophy 10.2
13 lattice corneal dystrophy 10.2
14 astigmatism 10.1
15 amyloidosis 10.1
16 corneal dystrophy, lattice type i 10.0
17 strabismus 10.0
18 suppression amblyopia 10.0
19 amblyopia 10.0
20 recurrent corneal erosion 10.0
21 mechanical strabismus 10.0
22 pathologic nystagmus 10.0
23 refractive error 10.0
24 rapidly involuting congenital hemangioma 10.0
25 interstitial keratitis 9.8 TGFBI DCN
26 corneal deposit 9.8 UBIAD1 TGFBI
27 corneal dystrophy, reis-bucklers type 9.8 UBIAD1 TGFBI
28 epithelial and subepithelial dystrophy 9.8 UBIAD1 TGFBI
29 corneal dystrophy, gelatinous drop-like 9.8 UBIAD1 TGFBI
30 corneal dystrophy, meesmann, 1 9.7 UBIAD1 TGFBI
31 corneal dystrophy, posterior polymorphous, 1 9.5 UBIAD1 TGFBI
32 corneal endothelial dystrophy 9.4 UBIAD1 TGFBI

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



Diseases related to Stromal Corneal Dystrophy

Symptoms & Phenotypes for Stromal Corneal Dystrophy

MGI Mouse Phenotypes related to Stromal Corneal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 8.92 DCN PIKFYVE TGFBI UBIAD1

Drugs & Therapeutics for Stromal Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Stromal Corneal Dystrophy

Genetic Tests for Stromal Corneal Dystrophy

Anatomical Context for Stromal Corneal Dystrophy

MalaCards organs/tissues related to Stromal Corneal Dystrophy:

40
Eye, Endothelial

Publications for Stromal Corneal Dystrophy

Articles related to Stromal Corneal Dystrophy:

(show all 28)
# Title Authors PMID Year
1
[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. 54 61
16888689 2006
2
Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy - A comparative cross-sectional study. 61
31638043 2019
3
Infective keratitis in Indian patients with corneal dystrophies. 61
29041837 2018
4
Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges. 61
30206563 2018
5
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). 61
26828927 2016
6
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. 61
26029887 2015
7
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. 61
24413633 2014
8
Intracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy. 61
23685109 2013
9
Corneal stromal dystrophies: a clinical pathologic study. 61
23715139 2012
10
The galactosaminoglycan-containing decorin and its impact on diseases. 61
22877511 2012
11
Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans. 61
21893019 2011
12
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. 61
20484579 2010
13
Congenital Stromal Corneal Dystrophy 61
20301741 2008
14
[TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies]. 54
19062536 2008
15
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 54
18079684 2007
16
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. 61
17893671 2007
17
Deep anterior lamellar keratoplasty by big-bubble technique for treatment corneal stromal opacities. 61
17434435 2007
18
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 54
18427622 2007
19
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. 61
16935612 2006
20
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. 61
16118514 2005
21
[Isolated ptosis in a 58-year-old woman]. 61
16106815 2005
22
Impact of phototherapeutic keratectomy on the outcome of subsequent penetrating keratoplasty in patients with stromal corneal dystrophies. 61
14962421 2004
23
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 61
12709742 2003
24
Blood-aqueous barrier breakdown after penetrating keratoplasty with simultaneous extracapsular cataract extraction and posterior chamber lens implantation. 61
11372539 2001
25
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. 54
11262611 2000
26
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 54
11024425 2000
27
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. 54
9399907 1997
28
[Unilateral type III (Hida) lattice stromal corneal dystrophy]. 61
8114470 1993

Variations for Stromal Corneal Dystrophy

Expression for Stromal Corneal Dystrophy

Search GEO for disease gene expression data for Stromal Corneal Dystrophy.

Pathways for Stromal Corneal Dystrophy

GO Terms for Stromal Corneal Dystrophy

Cellular components related to Stromal Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 TGFBI DCN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 TGFBI DCN

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 TGFBI DCN
2 extracellular matrix binding GO:0050840 8.62 TGFBI DCN

Sources for Stromal Corneal 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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