CSCD
MCID: CRN241
MIFTS: 43

Corneal Dystrophy, Congenital Stromal (CSCD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Congenital Stromal

MalaCards integrated aliases for Corneal Dystrophy, Congenital Stromal:

Name: Corneal Dystrophy, Congenital Stromal 58 26 76 13 45 74
Congenital Stromal Corneal Dystrophy 58 12 25 26 60 38 30 6 15
Cscd 58 12 26 60 76
Congenital Hereditary Stromal Dystrophy 12 60
Decorin-Associated Congenital Stromal Corneal Dystrophy 26
Congenital Hereditary Stromal Dystrophy of the Cornea 26
Dystrophia Corneae Parenchymatosa Congenita 26
Congenital Stromal Dystrophy of the Cornea 26
Dystrophy, Corneal, Stromal, Congenital 41
Witschel Dystrophy 60
Dacs 26

Characteristics:

Orphanet epidemiological data:

60
congenital stromal corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance


HPO:

33
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is complete in the described families...

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060445
OMIM 58 610048
KEGG 38 H00958
ICD10 34 H18.5
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1864738
Orphanet 60 ORPHA101068
MedGen 43 C1864738
UMLS 74 C1864738

Summaries for Corneal Dystrophy, Congenital Stromal

OMIM : 58 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 primary amebic meningoencephalitis. An important gene associated with Corneal Dystrophy, Congenital Stromal is DCN (Decorin), and among its related pathways/superpathways are TGF-beta signaling pathway and HIV Life Cycle. Affiliated tissues include eye, endothelial and breast, and related phenotypes are strabismus and glaucoma

Genetics Home Reference : 26 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 : 76 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 24)
# Related Disease Score Top Affiliating Genes
1 stromal dystrophy 29.8 DCN KERA LUM
2 primary amebic meningoencephalitis 10.2
3 corneal dystrophy 10.1
4 breast cancer 10.1
5 myelodysplastic syndrome 10.1
6 sclerosing cholangitis, neonatal 10.1
7 cutaneous leishmaniasis 10.1
8 leishmaniasis 10.1
9 renal artery atheroma 10.0 BGN DCN
10 achondrogenesis, type ib 10.0 BGN DCN
11 ovarian cancer 10.0
12 prostate cancer 10.0
13 spondylocarpotarsal synostosis syndrome 10.0
14 prostate cancer, hereditary, 8 10.0
15 prostate cancer, hereditary, 6 10.0
16 lymphoma 10.0
17 sarcoma 10.0
18 acute respiratory distress syndrome 10.0
19 allergic encephalomyelitis 10.0
20 polymyositis 10.0
21 soft tissue sarcoma 10.0
22 exposure keratitis 9.9 BGN KERA
23 cornea plana 9.7 DCN KERA LUM
24 corneal dystrophy, posterior amorphous 9.6 KERA 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

Human phenotypes related to Corneal Dystrophy, Congenital Stromal:

33
# Description HPO Frequency HPO Source Accession
1 strabismus 33 very rare (1%) HP:0000486
2 glaucoma 33 very rare (1%) HP:0000501
3 progressive visual loss 33 HP:0000529
4 congenital corneal dystrophy 33 HP:0008005
5 increased corneal thickness 33 HP:0011487

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Corneal Dystrophy, Congenital Stromal:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.92 BGN CD70 DCN FMOD HYAL1 KERA
2 behavior/neurological MP:0005386 9.91 ACD BGN DCN FMOD LUM LYZ
3 cellular MP:0005384 9.88 ACD BGN DCN FMOD LUM LYZ
4 integument MP:0010771 9.73 ACD BGN DCN FMOD LUM LYZ
5 craniofacial MP:0005382 9.67 ACD BGN DCN FMOD
6 limbs/digits/tail MP:0005371 9.46 ACD BGN FMOD LUM
7 reproductive system MP:0005389 9.35 ACD BGN DCN LUM LYZ
8 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 30 DCN

Anatomical Context for Corneal Dystrophy, Congenital Stromal

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

42
Eye, Endothelial, Breast

Publications for Corneal Dystrophy, Congenital Stromal

Articles related to Corneal Dystrophy, Congenital Stromal:

(show all 11)
# Title Authors Year
1
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). ( 26828927 )
2016
2
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. ( 26029887 )
2015
3
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. ( 24413633 )
2014
4
Intracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy. ( 23685109 )
2013
5
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
6
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. ( 21993463 )
2011
7
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. ( 20484579 )
2010
8
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. ( 16935612 )
2006
9
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. ( 15671264 )
2005
10
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. ( 11805522 )
2002
11
Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination. ( 5304426 )
1968

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.962del (p.Lys321Argfs) deletion Pathogenic rs587777258 GRCh37 Chromosome 12, 91539953: 91539953
8 DCN NM_001920.4(DCN): c.962del (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.975G> A (p.Ser325=) single nucleotide variant Likely benign rs80123678 GRCh37 Chromosome 12, 91539940: 91539940
26 DCN NM_001920.4(DCN): c.975G> A (p.Ser325=) single nucleotide variant Likely benign rs80123678 GRCh38 Chromosome 12, 91146163: 91146163
27 DCN NM_001920.4(DCN): c.*377T> C single nucleotide variant Likely benign rs35379812 GRCh38 Chromosome 12, 91145681: 91145681
28 DCN NM_001920.4(DCN): c.*377T> C single nucleotide variant Likely benign rs35379812 GRCh37 Chromosome 12, 91539458: 91539458
29 DCN NM_001920.4(DCN): c.*220G> C single nucleotide variant Uncertain significance rs886049890 GRCh37 Chromosome 12, 91539615: 91539615
30 DCN NM_001920.4(DCN): c.*220G> C single nucleotide variant Uncertain significance rs886049890 GRCh38 Chromosome 12, 91145838: 91145838
31 DCN NM_001920.4(DCN): c.1062A> T (p.Gln354His) single nucleotide variant Uncertain significance rs765239185 GRCh37 Chromosome 12, 91539853: 91539853
32 DCN NM_001920.4(DCN): c.1062A> T (p.Gln354His) single nucleotide variant Uncertain significance rs765239185 GRCh38 Chromosome 12, 91146076: 91146076
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:

38
# 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
13.2 BGN DCN FMOD KERA LUM
2
Show member pathways
12.48 BGN DCN FMOD HYAL1 KERA LUM
3
Show member pathways
12.36 BGN DCN FMOD LUM
4
Show member pathways
11.61 BGN DCN FMOD HYAL1 KERA LUM
5
Show member pathways
11.52 BGN DCN FMOD KERA LUM
6
Show member pathways
11.49 FMOD KERA LUM
7 11.21 BGN DCN FMOD LUM
8 11.05 BGN DCN FMOD

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 space GO:0005615 9.85 CD70 DCN FMOD HYAL1 LUM LYZ
2 extracellular exosome GO:0070062 9.8 BGN CD70 HYAL1 LUM LYZ
3 extracellular region GO:0005576 9.8 BGN DCN FMOD HYAL1 KERA LUM
4 collagen-containing extracellular matrix GO:0062023 9.62 BGN DCN FMOD LUM
5 extracellular matrix GO:0031012 9.55 BGN DCN FMOD KERA LUM
6 Golgi lumen GO:0005796 9.35 BGN DCN FMOD KERA LUM
7 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 BGN DCN LUM
2 cartilage development GO:0051216 9.46 HYAL1 LUM
3 collagen fibril organization GO:0030199 9.43 FMOD LUM
4 chondroitin sulfate biosynthetic process GO:0030206 9.37 BGN DCN
5 keratan sulfate biosynthetic process GO:0018146 9.33 FMOD KERA LUM
6 dermatan sulfate biosynthetic process GO:0030208 9.32 BGN DCN
7 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.26 BGN DCN
8 chondroitin sulfate catabolic process GO:0030207 9.13 BGN DCN HYAL1
9 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 9.32 HYAL1 LYZ
2 collagen binding GO:0005518 9.26 DCN LUM
3 extracellular matrix binding GO:0050840 9.16 BGN DCN
4 glycosaminoglycan binding GO:0005539 8.96 BGN DCN
5 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.92 BGN DCN FMOD LUM

Sources for Corneal Dystrophy, Congenital Stromal

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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