MCID: CRN241
MIFTS: 41

Corneal Dystrophy, Congenital Stromal

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Congenital Stromal

MalaCards integrated aliases for Corneal Dystrophy, Congenital Stromal:

Name: Corneal Dystrophy, Congenital Stromal 53 24 71 13 41 69
Congenital Stromal Corneal Dystrophy 53 12 23 24 55 36 28 14
Cscd 53 12 24 55 71
Congenital Hereditary Stromal Dystrophy of the Cornea 23 24
Congenital Hereditary Stromal Dystrophy 12 55
Decorin-Associated Congenital Stromal Corneal Dystrophy 24
Dystrophia Corneae Parenchymatosa Congenita 24
Congenital Stromal Dystrophy of the Cornea 24
Witschel Dystrophy 55
Dacs 24

Characteristics:

Orphanet epidemiological data:

55
congenital stromal corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance


HPO:

31
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is complete in the described families...

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 610048
Disease Ontology 12 DOID:0060445
ICD10 32 H18.5
Orphanet 55 ORPHA101068
UMLS via Orphanet 70 C1864738
ICD10 via Orphanet 33 H18.5
MedGen 39 C1864738
KEGG 36 H00958
UMLS 69 C1864738

Summaries for Corneal Dystrophy, Congenital Stromal

OMIM : 53 Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as congenital hereditary endothelial dystrophy (see 121700), posterior polymorphous dystrophy (see 122000), and congenital glaucoma (see 137760). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by Kim et al., 2011 and Jing et al., 2014). (610048)

MalaCards based summary : Corneal Dystrophy, Congenital Stromal, also known as congenital stromal corneal dystrophy, is related to stromal dystrophy and polyarteritis nodosa, childhood-onset, and has symptoms including strabismus, glaucoma and progressive visual loss. An important gene associated with Corneal Dystrophy, Congenital Stromal is DCN (Decorin), and among its related pathways/superpathways are TGF-beta signaling pathway and Glycosaminoglycan metabolism. Affiliated tissues include eye and endothelial, and related phenotypes are growth/size/body region and immune system

UniProtKB/Swiss-Prot : 71 Corneal dystrophy, congenital stromal: A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent.

Genetics Home Reference : 24 Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia).

GeneReviews: NBK2690

Related Diseases for Corneal Dystrophy, Congenital Stromal

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

# Related Disease Score Top Affiliating Genes
1 stromal dystrophy 29.8 DCN KERA LUM
2 polyarteritis nodosa, childhood-onset 10.1
3 corneal dystrophy 9.9
4 corneal dystrophy, posterior amorphous 9.9 KERA LUM
5 renal artery atheroma 9.8 BGN DCN
6 achondrogenesis, type ib 9.8 BGN DCN
7 cornea plana 9.8 DCN KERA LUM
8 exposure keratitis 9.7 BGN KERA
9 myopia 9.4 DCN FMOD LUM

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



Diseases related to Corneal Dystrophy, Congenital Stromal

Symptoms & Phenotypes for Corneal Dystrophy, Congenital Stromal

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
corneal stromal opacification, congenital progressive
visual loss, progressive painless
increased corneal thickness
abnormal fibrils in stroma on electron microscopy
no corneal erosions
more

Clinical features from OMIM:

610048

Human phenotypes related to Corneal Dystrophy, Congenital Stromal:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 very rare (1%) HP:0000486
2 glaucoma 31 very rare (1%) HP:0000501
3 progressive visual loss 31 HP:0000529
4 congenital corneal dystrophy 31 HP:0008005
5 increased corneal thickness 31 HP:0011487

MGI Mouse Phenotypes related to Corneal Dystrophy, Congenital Stromal:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 ACD BGN DCN FMOD LUM LYZ
2 immune system MP:0005387 9.76 KERA LUM LYZ BGN CD70 DCN
3 integument MP:0010771 9.43 ACD BGN DCN FMOD LUM LYZ
4 skeleton MP:0005390 9.1 BGN DCN FMOD HYAL1 LUM LYZ

Drugs & Therapeutics for Corneal Dystrophy, Congenital Stromal

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Congenital Stromal

Cochrane evidence based reviews: corneal dystrophy, congenital stromal

Genetic Tests for Corneal Dystrophy, Congenital Stromal

Genetic tests related to Corneal Dystrophy, Congenital Stromal:

# Genetic test Affiliating Genes
1 Congenital Stromal Corneal Dystrophy 28 DCN

Anatomical Context for Corneal Dystrophy, Congenital Stromal

MalaCards organs/tissues related to Corneal Dystrophy, Congenital Stromal:

38
Eye, Endothelial

Publications for Corneal Dystrophy, Congenital Stromal

Articles related to Corneal Dystrophy, Congenital Stromal:

# Title Authors Year
1
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). ( 26828927 )
2016
2
Novel Decorin Mutation in a Chinese Family With Congenital Stromal Corneal Dystrophy. ( 24413633 )
2014
3
Intracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy. ( 23685109 )
2013
4
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. ( 21893019 )
2011
5
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. ( 20484579 )
2010
6
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. ( 16935612 )
2006
7
Congenital Stromal Corneal Dystrophy ( 20301741 )
1993

Variations for Corneal Dystrophy, Congenital Stromal

ClinVar genetic disease variations for Corneal Dystrophy, Congenital Stromal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCN NM_001920.4(DCN): c.967delT (p.Ser323Leufs) deletion Pathogenic rs80338741 GRCh37 Chromosome 12, 91539948: 91539948
2 DCN NM_001920.4(DCN): c.941delC (p.Pro314Hisfs) deletion Pathogenic rs80338742 GRCh37 Chromosome 12, 91539974: 91539974
3 DCN NM_001920.4(DCN): c.947delG (p.Gly316Aspfs) deletion Pathogenic rs397515545 GRCh37 Chromosome 12, 91539968: 91539968
4 DCN NM_001920.4(DCN): c.962delA (p.Lys321Argfs) deletion Pathogenic rs587777258 GRCh37 Chromosome 12, 91539953: 91539953

Expression for Corneal Dystrophy, Congenital Stromal

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

Pathways for Corneal Dystrophy, Congenital Stromal

Pathways related to Corneal Dystrophy, Congenital Stromal according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Corneal Dystrophy, Congenital Stromal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 BGN DCN FMOD HYAL1 KERA LUM
2
Show member pathways
12.39 BGN DCN FMOD LUM
3
Show member pathways
11.61 BGN DCN FMOD HYAL1 KERA LUM
4
Show member pathways
11.52 FMOD KERA LUM
5
Show member pathways
11.52 BGN DCN FMOD KERA LUM
6 11.21 BGN DCN FMOD LUM
7 11.1 BGN DCN FMOD
8
Show member pathways
10.82 FMOD KERA LUM

GO Terms for Corneal Dystrophy, Congenital Stromal

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 BGN DCN FMOD HYAL1 KERA LUM
2 extracellular space GO:0005615 9.76 BGN CD70 DCN FMOD HYAL1 KERA
3 proteinaceous extracellular matrix GO:0005578 9.65 BGN DCN FMOD KERA LUM
4 extracellular matrix GO:0031012 9.62 BGN DCN FMOD LUM
5 Golgi lumen GO:0005796 9.35 BGN DCN FMOD KERA LUM
6 lysosomal lumen GO:0043202 9.1 BGN DCN FMOD HYAL1 KERA LUM

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.61 BGN DCN LUM
2 axonogenesis GO:0007409 9.54 FMOD KERA LUM
3 cartilage development GO:0051216 9.51 HYAL1 LUM
4 negative regulation of JAK-STAT cascade GO:0046426 9.49 BGN DCN
5 collagen fibril organization GO:0030199 9.48 FMOD LUM
6 glycosaminoglycan metabolic process GO:0030203 9.46 BGN DCN
7 chondroitin sulfate biosynthetic process GO:0030206 9.4 BGN DCN
8 keratan sulfate biosynthetic process GO:0018146 9.33 FMOD KERA LUM
9 dermatan sulfate biosynthetic process GO:0030208 9.32 BGN DCN
10 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.26 BGN DCN
11 chondroitin sulfate catabolic process GO:0030207 9.13 BGN DCN HYAL1
12 keratan sulfate catabolic process GO:0042340 8.8 FMOD KERA LUM

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.32 BGN LUM
2 protein kinase inhibitor activity GO:0004860 9.26 BGN DCN
3 collagen binding GO:0005518 9.16 DCN LUM
4 extracellular matrix binding GO:0050840 8.96 BGN DCN
5 glycosaminoglycan binding GO:0005539 8.62 BGN DCN

Sources for Corneal Dystrophy, Congenital Stromal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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