MCID: STR111
MIFTS: 21

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 59
Stromal Dystrophies Corneal 55

Characteristics:

Orphanet epidemiological data:

59
stromal corneal dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C0038457
Orphanet 59 ORPHA98626

Summaries for Stromal Corneal Dystrophy

MalaCards based summary : Stromal Corneal Dystrophy, also known as stromal dystrophies corneal, is related to macular dystrophy, corneal and corneal disease. An important gene associated with Stromal Corneal Dystrophy is DCN (Decorin). Affiliated tissues include eye, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Stromal Corneal Dystrophy

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.26 DCN PIKFYVE TGFBI UBIAD1
2 homeostasis/metabolism MP:0005376 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:

41
Eye

Publications for Stromal Corneal Dystrophy

Articles related to Stromal Corneal Dystrophy:

(show all 27)
# Title Authors PMID Year
1
[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. 9 38
16888689 2006
2
Infective keratitis in Indian patients with corneal dystrophies. 38
29041837 2018
3
Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges. 38
30206563 2018
4
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). 38
26828927 2016
5
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. 38
26029887 2015
6
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. 38
24413633 2014
7
Intracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy. 38
23685109 2013
8
Corneal stromal dystrophies: a clinical pathologic study. 38
23715139 2012
9
The galactosaminoglycan-containing decorin and its impact on diseases. 38
22877511 2012
10
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. 38
21893019 2011
11
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. 38
20484579 2010
12
Congenital Stromal Corneal Dystrophy 38
20301741 2008
13
[TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies]. 9
19062536 2008
14
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 9
18079684 2007
15
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. 38
17893671 2007
16
Deep anterior lamellar keratoplasty by big-bubble technique for treatment corneal stromal opacities. 38
17434435 2007
17
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 9
18427622 2007
18
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. 38
16935612 2006
19
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. 38
16118514 2005
20
[Isolated ptosis in a 58-year-old woman]. 38
16106815 2005
21
Impact of phototherapeutic keratectomy on the outcome of subsequent penetrating keratoplasty in patients with stromal corneal dystrophies. 38
14962421 2004
22
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 38
12709742 2003
23
Blood-aqueous barrier breakdown after penetrating keratoplasty with simultaneous extracapsular cataract extraction and posterior chamber lens implantation. 38
11372539 2001
24
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. 9
11262611 2000
25
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 9
11024425 2000
26
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. 9
9399907 1997
27
[Unilateral type III (Hida) lattice stromal corneal dystrophy]. 38
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 8.96 TGFBI DCN
2 collagen-containing extracellular matrix GO:0062023 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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