MCID: CRN241
MIFTS: 42

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 54 25 71 13 42 69
Congenital Stromal Corneal Dystrophy 12 23 24 25 56 29 14
Cscd 12 25 56 71
Congenital Hereditary Stromal Dystrophy of the Cornea 23 24 25
Congenital Hereditary Stromal Dystrophy 12 56
Decorin-Associated Congenital Stromal Corneal Dystrophy 25
Dystrophia Corneae Parenchymatosa Congenita 25
Congenital Stromal Dystrophy of the Cornea 25
Witschel Dystrophy 56
Dacs 25

Characteristics:

Orphanet epidemiological data:

56
congenital stromal corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Miscellaneous:
complete penetrance

Inheritance:
autosomal dominant


HPO:

32
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 610048
Disease Ontology 12 DOID:0060445
ICD10 33 H18.5
Orphanet 56 ORPHA101068
UMLS via Orphanet 70 C1864738
ICD10 via Orphanet 34 H18.5
MedGen 40 C1864738

Summaries for Corneal Dystrophy, Congenital Stromal

OMIM : 54
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 cone-rod dystrophy 20, and has symptoms including progressive visual loss, strabismus and glaucoma. An important gene associated with Corneal Dystrophy, Congenital Stromal is DCN (Decorin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Degradation of the extracellular matrix. The drugs Dexamethasone and Antiemetics have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are behavior/neurological and cellular

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 : 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).

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:

id Related Disease Score Top Affiliating Genes
1 stromal dystrophy 10.0
2 cone-rod dystrophy 20 10.0 KERA LUM
3 acquired gastric outlet stenosis 9.9 BGN DCN
4 breast cancer 9.9
5 corneal dystrophy 9.8
6 bacterial meningitis 9.8 BGN KERA
7 x-linked chondrodysplasia punctata 9.8 DCN KERA LUM
8 chromosome 3q29 microduplication syndrome 9.7 DCN KERA LUM
9 epiphyseal dysplasia, multiple, 4 9.6 BGN DCN
10 frontonasal dysplasia 3 6.6 ACD BGN CD70 DCN FMOD KERA

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:

54

Head And Neck- Eyes:
no corneal erosions
photophobia, severe (rare)
increased corneal thickness
abnormal fibrils in stroma on electron microscopy
visual loss, progressive painless
more

Clinical features from OMIM:

610048

Human phenotypes related to Corneal Dystrophy, Congenital Stromal:

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

MGI Mouse Phenotypes related to Corneal Dystrophy, Congenital Stromal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 ACD BGN DCN FMOD LUM LYZ
2 cellular MP:0005384 9.85 ACD BGN DCN FMOD LUM LYZ
3 growth/size/body region MP:0005378 9.8 ACD BGN DCN FMOD LUM LYZ
4 immune system MP:0005387 9.7 BGN CD70 DCN FMOD KERA LUM
5 craniofacial MP:0005382 9.62 ACD BGN DCN FMOD
6 integument MP:0010771 9.43 ACD BGN DCN FMOD LUM LYZ
7 limbs/digits/tail MP:0005371 8.92 ACD BGN FMOD LUM

Drugs & Therapeutics for Corneal Dystrophy, Congenital Stromal

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
2 Antiemetics Phase 2
3 Anti-Inflammatory Agents Phase 2
4 Antineoplastic Agents, Hormonal Phase 2
5 Autonomic Agents Phase 2
6 BB 1101 Phase 2
7 Dexamethasone acetate Phase 2 1177-87-3
8 Gastrointestinal Agents Phase 2
9 glucocorticoids Phase 2
10 HIV Protease Inhibitors Phase 2
11 Hormone Antagonists Phase 2
12 Hormones Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Pharmaceutical Solutions Phase 2
16
protease inhibitors Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
2 Specular Microscopy Study Withdrawn NCT02478970

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:

id Genetic test Affiliating Genes
1 Congenital Stromal Corneal Dystrophy 29 24 DCN

Anatomical Context for Corneal Dystrophy, Congenital Stromal

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

39
Eye, Endothelial

Publications for Corneal Dystrophy, Congenital Stromal

Variations for Corneal Dystrophy, Congenital Stromal

ClinVar genetic disease variations for Corneal Dystrophy, Congenital Stromal:

6
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 BGN DCN FMOD KERA LUM
2
Show member pathways
12.36 BGN DCN FMOD LUM
3
Show member pathways
12.06 BGN DCN FMOD KERA LUM
4
Show member pathways
11.49 FMOD KERA LUM
5 11.42 BGN DCN
6
Show member pathways
11.19 BGN DCN FMOD KERA LUM
7 11.01 BGN DCN FMOD
8 11.01 BGN DCN FMOD LUM

GO Terms for Corneal Dystrophy, Congenital Stromal

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 BGN DCN FMOD KERA LUM LYZ
2 extracellular space GO:0005615 9.8 BGN CD70 DCN FMOD KERA LUM
3 extracellular matrix GO:0031012 9.62 BGN DCN FMOD LUM
4 proteinaceous extracellular matrix GO:0005578 9.55 BGN DCN FMOD KERA LUM
5 Golgi lumen GO:0005796 9.35 BGN DCN FMOD KERA LUM
6 lysosomal lumen GO:0043202 9.02 BGN DCN FMOD KERA LUM

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.61 BGN DCN LUM
2 axonogenesis GO:0007409 9.5 FMOD KERA LUM
3 negative regulation of JAK-STAT cascade GO:0046426 9.49 BGN DCN
4 collagen fibril organization GO:0030199 9.48 FMOD LUM
5 glycosaminoglycan metabolic process GO:0030203 9.46 BGN DCN
6 chondroitin sulfate biosynthetic process GO:0030206 9.4 BGN DCN
7 chondroitin sulfate catabolic process GO:0030207 9.37 BGN DCN
8 dermatan sulfate biosynthetic process GO:0030208 9.26 BGN DCN
9 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.16 BGN DCN
10 keratan sulfate biosynthetic process GO:0018146 9.13 FMOD KERA LUM
11 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.32 BGN LUM
2 collagen binding GO:0005518 9.26 DCN LUM
3 protein kinase inhibitor activity GO:0004860 9.16 BGN DCN
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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