CSCD
MCID: CRN241
MIFTS: 48

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 56 25 73 13 43 71
Congenital Stromal Corneal Dystrophy 56 12 24 25 58 36 29 6 15
Cscd 56 12 25 58 73
Congenital Hereditary Stromal Dystrophy 12 58
Decorin-Associated Congenital Stromal Corneal Dystrophy 25
Congenital Hereditary Stromal Dystrophy of the Cornea 25
Dystrophia Corneae Parenchymatosa Congenita 25
Congenital Stromal Dystrophy of the Cornea 25
Dystrophy, Corneal, Stromal, Congenital 39
Witschel Dystrophy 58
Dacs 25

Characteristics:

Orphanet epidemiological data:

58
congenital stromal corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance


HPO:

31
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is complete in the described families.

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060445
OMIM 56 610048
KEGG 36 H00958
ICD10 32 H18.5
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C1864738
Orphanet 58 ORPHA101068
MedGen 41 C1864738
UMLS 71 C1864738

Summaries for Corneal Dystrophy, Congenital Stromal

OMIM : 56 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 corneal disease and corneal dystrophy. 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. The drugs Daunorubicin and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and myeloid, 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).

KEGG : 36 Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting amblyopia with searching nystagmus are common in affected individuals. CSCD is linked with mutations in the decorin gene, which encodes for a dermatan sulfate proteoglycan.

UniProtKB/Swiss-Prot : 73 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 in the Stromal Corneal Dystrophy family:

Corneal Dystrophy, Congenital Stromal

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 corneal disease 30.1 LUM KERA DCN
2 corneal dystrophy 29.9 LUM KERA EPYC DCN
3 stromal dystrophy 28.0 ZNF609 LUM LINC00615 KERA FMOD EPYC
4 leukemia, acute myeloid 10.4
5 myelodysplastic syndrome 10.3
6 myeloid leukemia 10.3
7 pancreatic cancer 10.2
8 kala-azar 1 10.2
9 leishmaniasis 10.2
10 cutaneous leishmaniasis 10.2
11 hyperphosphatemia 10.1
12 kidney disease 10.1
13 alopecia 10.1
14 allergic encephalomyelitis 10.1
15 cerebrofacial arteriovenous metameric syndrome 10.1
16 strabismus 10.0
17 suppression amblyopia 10.0
18 amblyopia 10.0
19 mechanical strabismus 10.0
20 pathologic nystagmus 10.0
21 refractive error 10.0
22 rapidly involuting congenital hemangioma 10.0
23 stromal corneal dystrophy 10.0
24 brittle cornea syndrome 2 10.0 ENSG00000253094 DCN
25 carotid artery dissection 10.0 MIR615 MIR583
26 acrocallosal syndrome 10.0 DCN BGN
27 autoimmune disease 10.0
28 colorectal cancer 10.0
29 multiple sclerosis 10.0
30 ovarian cancer 10.0
31 prostate cancer 10.0
32 split-hand/foot malformation 1 10.0
33 split-hand/foot malformation 3 10.0
34 myeloma, multiple 10.0
35 thrombocytopenia-absent radius syndrome 10.0
36 diffuse large b-cell lymphoma 10.0
37 limb ischemia 10.0
38 lymphoma 10.0
39 thrombosis 10.0
40 bone disease 10.0
41 mucositis 10.0
42 neutropenia 10.0
43 leukemia 10.0
44 acute leukemia 10.0
45 diarrhea 10.0
46 fibrosarcoma 10.0
47 skin disease 10.0
48 peripheral nervous system disease 10.0
49 b-cell lymphoma 10.0
50 chronic kidney disease 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
increased corneal thickness
corneal stromal opacification, congenital progressive
visual loss, progressive painless
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.17 BGN DCN EPYC FMOD KERA LUM

Drugs & Therapeutics for Corneal Dystrophy, Congenital Stromal

Drugs for Corneal Dystrophy, Congenital Stromal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Daunorubicin Approved Phase 1 20830-81-3 30323
2
Cytarabine Approved, Experimental, Investigational Phase 1 147-94-4, 65-46-3 6253
3
Panobinostat Approved, Investigational Phase 1 404950-80-7 6918837
4 Anti-Bacterial Agents Phase 1
5 Immunologic Factors Phase 1
6 Anti-Infective Agents Phase 1
7 Antibiotics, Antitubercular Phase 1
8 Topoisomerase Inhibitors Phase 1
9 Histone Deacetylase Inhibitors Phase 1
10 Antiviral Agents Phase 1
11 Immunosuppressive Agents Phase 1
12 Antimetabolites Phase 1
13
Caffeine Approved 58-08-2 2519
14 Tissue Plasminogen Activator

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Dose Finding and Proof-of-concept Study of the Histone Deacetylase Inhibitor Panobinostat (LBH589) in Combination With Standard Dose Cytarabine and Daunorubicin for Older Patients With Untreated Acute Myeloid Leukemia or Advanced Myelodysplastic Syndrome Completed NCT01463046 Phase 1 Panobinostat;Cytarabine;Daunorubicin
2 Clinical Trial on Objective Measures in Implantable Hearing Devices for Subjects With Mixed Hearing Loss. Unknown status NCT01780025
3 Effect of Food Consumption on microRNA Related to Metabolic Syndrome. A Randomized Clinical Trial Unknown status NCT02606812
4 Clinical Validation of the Nucleus® CP810 Sound Processor for the Codacs™ System Completed NCT02156167
5 Prospective, Single-Arm, Multi-center Study to Assess the Safety and Performance of the ANA Catheter System, in Combination With a Stent Retriever in Patients With Acute Ischemic Stroke Recruiting NCT04095767

Search 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

Anatomical Context for Corneal Dystrophy, Congenital Stromal

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

40
Eye, Endothelial, Myeloid, Kidney, B Cells, Bone, Thyroid

Publications for Corneal Dystrophy, Congenital Stromal

Articles related to Corneal Dystrophy, Congenital Stromal:

(show all 23)
# Title Authors PMID Year
1
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. 61 24 56 6
24413633 2014
2
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. 61 24 56 6
16935612 2006
3
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. 24 56 6
21993463 2011
4
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. 24 56 6
15671264 2005
5
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. 24 56 6
11805522 2002
6
Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination. 24 56 6
5304426 1968
7
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. 61 24 56
26029887 2015
8
[Familial congenital dystrophy of the corneal stroma: Turpin's syndrome (author's transl)]. 24 56
312637 1979
9
Congenital hereditary stromal dystrophy of the cornea. 24 56
350201 1978
10
Congenital Stromal Corneal Dystrophy 61 6
20301741 2008
11
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. 61 24
20484579 2010
12
[Not Available]. 56
14378991 1955
13
Metabolic reprogramming of murine cardiomyocytes during autophagy requires the extracellular nutrient sensor decorin. 24
30049794 2018
14
Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? 24
27107055 2016
15
Timing, rates and spectra of human germline mutation. 24
26656846 2016
16
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. 24
22870031 2012
17
Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycan. 24
19136671 2009
18
Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction. 24
18463092 2008
19
The Decorin gene 179 allelic variant is associated with a slower progression of renal disease in patients with type 1 diabetes. 24
12187087 2002
20
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). 61
26828927 2016
21
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
22
The galactosaminoglycan-containing decorin and its impact on diseases. 61
22877511 2012
23
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

Variations for Corneal Dystrophy, Congenital Stromal

ClinVar genetic disease variations for Corneal Dystrophy, Congenital Stromal:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCN NM_001920.5(DCN):c.967del (p.Ser323fs)deletion Pathogenic 16870 rs80338741 12:91539948-91539948 12:91146171-91146171
2 DCN NM_001920.5(DCN):c.941del (p.Pro314fs)deletion Pathogenic 21302 rs80338742 12:91539974-91539974 12:91146197-91146197
3 DCN NM_001920.5(DCN):c.947del (p.Gly316fs)deletion Pathogenic 65663 rs397515545 12:91539968-91539968 12:91146191-91146191
4 DCN NM_001920.5(DCN):c.962del (p.Lys321fs)deletion Pathogenic 126374 rs587777258 12:91539953-91539953 12:91146176-91146176
5 DCN NM_001920.5(DCN):c.*443T>GSNV Uncertain significance 310643 rs886049888 12:91539392-91539392 12:91145615-91145615
6 DCN NM_001920.5(DCN):c.-187A>GSNV Uncertain significance 310665 rs551534809 12:91576585-91576585 12:91182808-91182808
7 DCN NM_001920.4(DCN):c.-307A>GSNV Uncertain significance 310668 rs886049891 12:91576705-91576705 12:91182928-91182928
8 DCN NM_001920.5(DCN):c.*220G>CSNV Uncertain significance 310646 rs886049890 12:91539615-91539615 12:91145838-91145838
9 DCN NM_001920.5(DCN):c.1062A>T (p.Gln354His)SNV Uncertain significance 310651 rs765239185 12:91539853-91539853 12:91146076-91146076
10 DCN NM_001920.5(DCN):c.621T>G (p.Ile207Met)SNV Uncertain significance 310657 rs373676217 12:91550883-91550883 12:91157106-91157106
11 DCN NM_001920.5(DCN):c.-180A>TSNV Uncertain significance 310664 rs757178906 12:91576578-91576578 12:91182801-91182801
12 DCN NM_001920.5(DCN):c.*289A>TSNV Uncertain significance 310645 rs886049889 12:91539546-91539546 12:91145769-91145769
13 DCN NM_001920.5(DCN):c.944C>A (p.Pro315His)SNV Uncertain significance 310653 rs777270608 12:91539971-91539971 12:91146194-91146194
14 DCN NM_001920.5(DCN):c.47_50del (p.Ala16fs)deletion Uncertain significance 632202 rs1565791154 12:91572280-91572283 12:91178503-91178506
15 DCN NM_001920.5(DCN):c.879C>T (p.Tyr293=)SNV Likely benign 310655 rs144307891 12:91545437-91545437 12:91151660-91151660
16 DCN NM_001920.5(DCN):c.*105G>ASNV Likely benign 310649 rs191434778 12:91539730-91539730 12:91145953-91145953
17 DCN NM_001920.5(DCN):c.212-6T>CSNV Likely benign 310661 rs191218249 12:91558500-91558500 12:91164723-91164723
18 DCN NM_001920.5(DCN):c.54G>A (p.Pro18=)SNV Likely benign 310662 rs145597441 12:91572276-91572276 12:91178499-91178499
19 DCN NM_001920.4(DCN):c.-249A>GSNV Likely benign 310666 rs189853358 12:91576647-91576647 12:91182870-91182870
20 DCN NM_001920.4(DCN):c.-296C>TSNV Likely benign 310667 rs540013218 12:91576694-91576694 12:91182917-91182917
21 DCN NM_001920.5(DCN):c.*148T>GSNV Likely benign 310648 rs564091657 12:91539687-91539687 12:91145910-91145910
22 DCN NM_001920.5(DCN):c.529A>T (p.Ile177Phe)SNV Likely benign 310658 rs201430261 12:91552082-91552082 12:91158305-91158305
23 DCN NM_001920.5(DCN):c.975G>A (p.Ser325=)SNV Likely benign 310652 rs80123678 12:91539940-91539940 12:91146163-91146163
24 DCN NM_001920.4(DCN):c.-325A>GSNV Likely benign 310669 rs147956869 12:91576723-91576723 12:91182946-91182946
25 DCN NM_001920.5(DCN):c.*377T>CSNV Likely benign 310644 rs35379812 12:91539458-91539458 12:91145681-91145681
26 DCN NM_001920.5(DCN):c.917T>C (p.Val306Ala)SNV Benign/Likely benign 310654 rs73358055 12:91539998-91539998 12:91146221-91146221
27 DCN NM_001920.5(DCN):c.33A>G (p.Ala11=)SNV Benign/Likely benign 310663 rs141738168 12:91572297-91572297 12:91178520-91178520
28 DCN NM_001920.5(DCN):c.282C>T (p.Thr94=)SNV Benign 310660 rs3138221 12:91558424-91558424 12:91164647-91164647
29 DCN NM_001920.5(DCN):c.*160C>TSNV Benign 310647 rs7441 12:91539675-91539675 12:91145898-91145898
30 DCN NM_001920.5(DCN):c.*51A>GSNV Benign 310650 rs1803343 12:91539784-91539784 12:91146007-91146007
31 DCN NM_001920.5(DCN):c.424A>G (p.Lys142Glu)SNV Benign 310659 rs142752401 12:91552187-91552187 12:91158410-91158410
32 DCN NM_001920.5(DCN):c.803C>T (p.Thr268Met)SNV Benign 310656 rs3138268 12:91545513-91545513 12:91151736-91151736

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
12.52 LUM KERA FMOD DCN BGN
2
Show member pathways
12.39 LUM FMOD DCN BGN
3
Show member pathways
12.16 LUM KERA FMOD DCN BGN
4
Show member pathways
11.52 LUM KERA FMOD
5
Show member pathways
11.19 LUM KERA FMOD DCN BGN
6 11.05 FMOD DCN BGN
7 11.01 LUM FMOD DCN BGN
8
Show member pathways
10.65 LUM KERA 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 matrix GO:0031012 9.63 LUM KERA FMOD EPYC DCN BGN
2 collagen-containing extracellular matrix GO:0062023 9.56 LUM FMOD DCN BGN
3 Golgi lumen GO:0005796 9.35 LUM KERA FMOD DCN BGN
4 lysosomal lumen GO:0043202 9.02 LUM KERA FMOD DCN BGN

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 9.61 LUM DCN BGN
2 collagen fibril organization GO:0030199 9.46 LUM FMOD
3 chondroitin sulfate biosynthetic process GO:0030206 9.4 DCN BGN
4 chondroitin sulfate catabolic process GO:0030207 9.37 DCN BGN
5 keratan sulfate biosynthetic process GO:0018146 9.33 LUM KERA FMOD
6 dermatan sulfate biosynthetic process GO:0030208 9.32 DCN BGN
7 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.26 DCN BGN
8 articular cartilage development GO:0061975 8.96 EPYC BGN
9 keratan sulfate catabolic process GO:0042340 8.8 LUM KERA FMOD

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.16 DCN BGN
2 glycosaminoglycan binding GO:0005539 9.13 EPYC DCN BGN
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.92 LUM FMOD DCN BGN

Sources for Corneal Dystrophy, Congenital Stromal

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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