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 57 25 75 13 44 73
Congenital Stromal Corneal Dystrophy 57 12 24 25 59 37 29 6 15
Cscd 57 12 25 59 75
Congenital Hereditary Stromal Dystrophy of the Cornea 24 25
Congenital Hereditary Stromal Dystrophy 12 59
Decorin-Associated Congenital Stromal Corneal Dystrophy 25
Dystrophia Corneae Parenchymatosa Congenita 25
Congenital Stromal Dystrophy of the Cornea 25
Dystrophy, Corneal, Stromal, Congenital 40
Witschel Dystrophy 59
Dacs 25

Characteristics:

Orphanet epidemiological data:

59
congenital stromal corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance


HPO:

32
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in the described families...

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 610048
Disease Ontology 12 DOID:0060445
ICD10 33 H18.5
Orphanet 59 ORPHA101068
UMLS via Orphanet 74 C1864738
ICD10 via Orphanet 34 H18.5
MedGen 42 C1864738
KEGG 37 H00958
UMLS 73 C1864738

Summaries for Corneal Dystrophy, Congenital Stromal

OMIM : 57 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 breast cancer. 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 strabismus and glaucoma

Genetics Home Reference : 25 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).

UniProtKB/Swiss-Prot : 75 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.

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 stromal dystrophy 29.5 DCN KERA LUM
2 breast cancer 9.9
3 ovarian cancer 9.9
4 prostate cancer 9.9
5 prostatitis 9.9
6 corneal dystrophy 9.9
7 corneal dystrophy, posterior amorphous 9.8 KERA LUM
8 renal artery atheroma 9.7 BGN DCN
9 achondrogenesis, type ib 9.7 BGN DCN
10 cornea plana 9.6 DCN KERA LUM
11 exposure keratitis 9.4 BGN KERA
12 myopia 9.0 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 strabismus 32 very rare (1%) HP:0000486
2 glaucoma 32 very rare (1%) HP:0000501
3 progressive visual loss 32 HP:0000529
4 congenital corneal dystrophy 32 HP:0008005
5 increased corneal thickness 32 HP:0011487

MGI Mouse Phenotypes related to Corneal Dystrophy, Congenital Stromal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 ACD BGN DCN FMOD LUM LYZ
2 immune system MP:0005387 9.86 BGN CD70 DCN FMOD HYAL1 KERA
3 integument MP:0010771 9.63 ACD BGN DCN FMOD LUM LYZ
4 limbs/digits/tail MP:0005371 9.26 ACD BGN FMOD LUM
5 skeleton MP:0005390 9.1 FMOD HYAL1 LUM LYZ BGN DCN

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 29 DCN

Anatomical Context for Corneal Dystrophy, Congenital Stromal

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

41
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
(show top 50) (show all 62)
# 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.967delT (p.Ser323Leufs) deletion Pathogenic rs80338741 GRCh38 Chromosome 12, 91146171: 91146171
3 DCN NM_001920.4(DCN): c.941delC (p.Pro314Hisfs) deletion Pathogenic rs80338742 GRCh37 Chromosome 12, 91539974: 91539974
4 DCN NM_001920.4(DCN): c.941delC (p.Pro314Hisfs) deletion Pathogenic rs80338742 GRCh38 Chromosome 12, 91146197: 91146197
5 DCN NM_001920.4(DCN): c.947delG (p.Gly316Aspfs) deletion Pathogenic rs397515545 GRCh37 Chromosome 12, 91539968: 91539968
6 DCN NM_001920.4(DCN): c.947delG (p.Gly316Aspfs) deletion Pathogenic rs397515545 GRCh38 Chromosome 12, 91146191: 91146191
7 DCN NM_001920.4(DCN): c.962delA (p.Lys321Argfs) deletion Pathogenic rs587777258 GRCh37 Chromosome 12, 91539953: 91539953
8 DCN NM_001920.4(DCN): c.962delA (p.Lys321Argfs) deletion Pathogenic rs587777258 GRCh38 Chromosome 12, 91146176: 91146176
9 DCN NM_001920.4(DCN): c.*443T> G single nucleotide variant Uncertain significance rs886049888 GRCh38 Chromosome 12, 91145615: 91145615
10 DCN NM_001920.4(DCN): c.*443T> G single nucleotide variant Uncertain significance rs886049888 GRCh37 Chromosome 12, 91539392: 91539392
11 DCN NM_001920.4(DCN): c.*160C> T single nucleotide variant Benign rs7441 GRCh37 Chromosome 12, 91539675: 91539675
12 DCN NM_001920.4(DCN): c.*160C> T single nucleotide variant Benign rs7441 GRCh38 Chromosome 12, 91145898: 91145898
13 DCN NM_001920.4(DCN): c.*51A> G single nucleotide variant Benign rs1803343 GRCh37 Chromosome 12, 91539784: 91539784
14 DCN NM_001920.4(DCN): c.*51A> G single nucleotide variant Benign rs1803343 GRCh38 Chromosome 12, 91146007: 91146007
15 DCN NM_001920.4(DCN): c.529A> T (p.Ile177Phe) single nucleotide variant Likely benign rs201430261 GRCh37 Chromosome 12, 91552082: 91552082
16 DCN NM_001920.4(DCN): c.529A> T (p.Ile177Phe) single nucleotide variant Likely benign rs201430261 GRCh38 Chromosome 12, 91158305: 91158305
17 DCN NM_001920.4(DCN): c.33A> G (p.Ala11=) single nucleotide variant Likely benign rs141738168 GRCh37 Chromosome 12, 91572297: 91572297
18 DCN NM_001920.4(DCN): c.33A> G (p.Ala11=) single nucleotide variant Likely benign rs141738168 GRCh38 Chromosome 12, 91178520: 91178520
19 DCN NM_001920.4(DCN): c.-187A> G single nucleotide variant Uncertain significance rs551534809 GRCh37 Chromosome 12, 91576585: 91576585
20 DCN NM_001920.4(DCN): c.-187A> G single nucleotide variant Uncertain significance rs551534809 GRCh38 Chromosome 12, 91182808: 91182808
21 DCN NM_001920.4(DCN): c.-307A> G single nucleotide variant Uncertain significance rs886049891 GRCh38 Chromosome 12, 91182928: 91182928
22 DCN NM_001920.4(DCN): c.-307A> G single nucleotide variant Uncertain significance rs886049891 GRCh37 Chromosome 12, 91576705: 91576705
23 DCN NM_001920.4(DCN): c.-325A> G single nucleotide variant Likely benign rs147956869 GRCh38 Chromosome 12, 91182946: 91182946
24 DCN NM_001920.4(DCN): c.-325A> G single nucleotide variant Likely benign rs147956869 GRCh37 Chromosome 12, 91576723: 91576723
25 DCN NM_001920.4(DCN): c.*377T> C single nucleotide variant Likely benign rs35379812 GRCh38 Chromosome 12, 91145681: 91145681
26 DCN NM_001920.4(DCN): c.*377T> C single nucleotide variant Likely benign rs35379812 GRCh37 Chromosome 12, 91539458: 91539458
27 DCN NM_001920.4(DCN): c.*220G> C single nucleotide variant Uncertain significance rs886049890 GRCh37 Chromosome 12, 91539615: 91539615
28 DCN NM_001920.4(DCN): c.*220G> C single nucleotide variant Uncertain significance rs886049890 GRCh38 Chromosome 12, 91145838: 91145838
29 DCN NM_001920.4(DCN): c.1062A> T (p.Gln354His) single nucleotide variant Uncertain significance rs765239185 GRCh37 Chromosome 12, 91539853: 91539853
30 DCN NM_001920.4(DCN): c.1062A> T (p.Gln354His) single nucleotide variant Uncertain significance rs765239185 GRCh38 Chromosome 12, 91146076: 91146076
31 DCN NM_001920.4(DCN): c.975G> A (p.Ser325=) single nucleotide variant Likely benign rs80123678 GRCh37 Chromosome 12, 91539940: 91539940
32 DCN NM_001920.4(DCN): c.975G> A (p.Ser325=) single nucleotide variant Likely benign rs80123678 GRCh38 Chromosome 12, 91146163: 91146163
33 DCN NM_001920.4(DCN): c.917T> C (p.Val306Ala) single nucleotide variant Likely benign rs73358055 GRCh37 Chromosome 12, 91539998: 91539998
34 DCN NM_001920.4(DCN): c.917T> C (p.Val306Ala) single nucleotide variant Likely benign rs73358055 GRCh38 Chromosome 12, 91146221: 91146221
35 DCN NM_001920.4(DCN): c.621T> G (p.Ile207Met) single nucleotide variant Uncertain significance rs373676217 GRCh37 Chromosome 12, 91550883: 91550883
36 DCN NM_001920.4(DCN): c.621T> G (p.Ile207Met) single nucleotide variant Uncertain significance rs373676217 GRCh38 Chromosome 12, 91157106: 91157106
37 DCN NM_001920.4(DCN): c.282C> T (p.Thr94=) single nucleotide variant Benign rs3138221 GRCh37 Chromosome 12, 91558424: 91558424
38 DCN NM_001920.4(DCN): c.282C> T (p.Thr94=) single nucleotide variant Benign rs3138221 GRCh38 Chromosome 12, 91164647: 91164647
39 DCN NM_001920.4(DCN): c.212-6T> C single nucleotide variant Likely benign rs191218249 GRCh37 Chromosome 12, 91558500: 91558500
40 DCN NM_001920.4(DCN): c.212-6T> C single nucleotide variant Likely benign rs191218249 GRCh38 Chromosome 12, 91164723: 91164723
41 DCN NM_001920.4(DCN): c.54G> A (p.Pro18=) single nucleotide variant Likely benign rs145597441 GRCh37 Chromosome 12, 91572276: 91572276
42 DCN NM_001920.4(DCN): c.54G> A (p.Pro18=) single nucleotide variant Likely benign rs145597441 GRCh38 Chromosome 12, 91178499: 91178499
43 DCN NM_001920.4(DCN): c.-249A> G single nucleotide variant Likely benign rs189853358 GRCh37 Chromosome 12, 91576647: 91576647
44 DCN NM_001920.4(DCN): c.-249A> G single nucleotide variant Likely benign rs189853358 GRCh38 Chromosome 12, 91182870: 91182870
45 DCN NM_001920.4(DCN): c.-296C> T single nucleotide variant Likely benign rs540013218 GRCh38 Chromosome 12, 91182917: 91182917
46 DCN NM_001920.4(DCN): c.-296C> T single nucleotide variant Likely benign rs540013218 GRCh37 Chromosome 12, 91576694: 91576694
47 DCN NM_001920.4(DCN): c.*148T> G single nucleotide variant Likely benign rs564091657 GRCh37 Chromosome 12, 91539687: 91539687
48 DCN NM_001920.4(DCN): c.*148T> G single nucleotide variant Likely benign rs564091657 GRCh38 Chromosome 12, 91145910: 91145910
49 DCN NM_001920.4(DCN): c.424A> G (p.Lys142Glu) single nucleotide variant Benign rs142752401 GRCh37 Chromosome 12, 91552187: 91552187
50 DCN NM_001920.4(DCN): c.424A> G (p.Lys142Glu) single nucleotide variant Benign rs142752401 GRCh38 Chromosome 12, 91158410: 91158410

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:

37
# 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 9.87 BGN DCN FMOD HYAL1 KERA LUM
2 extracellular space GO:0005615 9.76 BGN CD70 DCN FMOD HYAL1 KERA
3 extracellular matrix GO:0031012 9.56 BGN DCN FMOD LUM
4 Golgi lumen GO:0005796 9.35 BGN DCN FMOD KERA LUM
5 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 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 HYAL1 LYZ
2 protein kinase inhibitor activity GO:0004860 9.32 BGN DCN
3 extracellular matrix structural constituent GO:0005201 9.26 BGN LUM
4 collagen binding GO:0005518 9.16 DCN LUM
5 extracellular matrix binding GO:0050840 8.96 BGN DCN
6 glycosaminoglycan binding GO:0005539 8.62 BGN DCN

Sources for Corneal Dystrophy, Congenital Stromal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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