CSCD
MCID: CRN241
MIFTS: 49

Corneal Dystrophy, Congenital Stromal (CSCD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Congenital Stromal

MalaCards integrated aliases for Corneal Dystrophy, Congenital Stromal:

Name: Corneal Dystrophy, Congenital Stromal 57 43 72 13 44 70
Congenital Stromal Corneal Dystrophy 57 12 25 43 58 36 29 6 15
Cscd 57 12 43 58 72
Congenital Hereditary Stromal Dystrophy 12 58
Decorin-Associated Congenital Stromal Corneal Dystrophy 43
Congenital Hereditary Stromal Dystrophy of the Cornea 43
Dystrophia Corneae Parenchymatosa Congenita 43
Congenital Stromal Dystrophy of the Cornea 43
Dystrophy, Corneal, Stromal, Congenital 39
Witschel Dystrophy 58
Dacs 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance


HPO:

31
corneal dystrophy, congenital stromal:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is complete in the described families.

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060445
OMIM® 57 610048
KEGG 36 H00958
ICD10 32 H18.5
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 71 C1864738
Orphanet 58 ORPHA101068
MedGen 41 C1864738
UMLS 70 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) (Updated 05-Apr-2021)

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 Mitoxantrone and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and myeloid, and related phenotypes are strabismus and glaucoma

Disease Ontology : 12 A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.

MedlinePlus Genetics : 43 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 : 72 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 all 31)
# Related Disease Score Top Affiliating Genes
1 corneal disease 30.1 LUM KERA DCN
2 corneal dystrophy 29.8 LUM KERA EPYC DCN
3 stromal dystrophy 28.0 MIR4766 MIR138-1 MIR136 LUM LINC00615 KERA
4 disease by infectious agent 10.1
5 laryngeal disease 10.1 MIR330 MIR149 CDR1-AS
6 strabismus 10.0
7 rapidly involuting congenital hemangioma 10.0
8 suppression amblyopia 10.0
9 amblyopia 10.0
10 mechanical strabismus 10.0
11 pathologic nystagmus 10.0
12 refractive error 10.0
13 central nervous system cancer 10.0 MIR330 MIR224 MIR149
14 nervous system cancer 10.0 MIR330 MIR224 MIR149
15 urinary system disease 10.0 MIR224 MIR149 MIR138-1 CDR1-AS
16 cervix disease 10.0 MIR330 MIR224 MIR149
17 female reproductive system disease 10.0 MIR330 MIR224 MIR149 MIR136
18 respiratory system cancer 10.0 MIR330 MIR224 MIR149 MIR138-1
19 pancreas disease 10.0 MIR615 MIR330 MIR224 MIR149
20 connective tissue cancer 10.0 MIR330 MIR224 MIR149
21 oral squamous cell carcinoma 9.9 MIR330 MIR224 MIR149 MIR138-1
22 stromal corneal dystrophy 9.9
23 bladder disease 9.9 MIR224 MIR149 CDR1-AS
24 nervous system disease 9.9 MIR330 MIR224 MIR149 MIR138-1 MIR136
25 respiratory system disease 9.9 MIR615 MIR330 MIR224 MIR149 MIR138-1
26 fuchs' endothelial dystrophy 9.8 LUM KERA ENSG00000253094 DCN
27 uterine anomalies 9.8 MIR330 MIR224 MIR149
28 macular dystrophy, corneal 9.8 LUM KERA FMOD DCN
29 myopia 9.6 LUM FMOD EPYC DCN
30 cornea plana 9.4 LUM LINC00615 KERA FMOD EPYC DCN
31 corneal dystrophy, posterior amorphous 9.2 LUM LINC00615 KERA FMOD EPYC DCN

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 increased corneal thickness 31 HP:0011487
5 congenital corneal dystrophy 31 HP:0008005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Corneal Dystrophy, Congenital Stromal

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

(show top 50) (show all 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
2
Caffeine Approved Phase 3 58-08-2 2519
3
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
4
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
5
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
6
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 3 14838-15-4 26934
7
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
8
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
9
Warfarin Approved Phase 3 81-81-2 54678486 6691
10
Vitamin K1 Approved, Investigational Phase 3 84-80-0 5284607
11
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
12
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
13
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
16
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
17
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
18
Allopurinol Approved Phase 3 315-30-0 2094
19
tannic acid Approved Phase 3 1401-55-4
20
Hydroxyurea Approved Phase 3 127-07-1 3657
21
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
22
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
23 Menaquinone Investigational Phase 3 1182-68-9
24
Molgramostim Investigational Phase 2, Phase 3 99283-10-0
25
Daclizumab Investigational, Withdrawn Phase 3 152923-56-3
26 Antiviral Agents Phase 3
27 Anti-Infective Agents Phase 3
28 Gastrointestinal Agents Phase 3
29 interferons Phase 3
30 Interferon-beta Phase 3
31 Neurotransmitter Agents Phase 3
32 Nutrients Phase 3
33 Central Nervous System Stimulants Phase 3
34 Micronutrients Phase 3
35 Psychotropic Drugs Phase 3
36 Respiratory System Agents Phase 3
37 Excitatory Amino Acid Antagonists Phase 3
38 Trace Elements Phase 3
39 Vitamins Phase 3
40 Anesthetics Phase 3
41 Vitamin K Phase 3
42 Hypnotics and Sedatives Phase 3
43 Anticoagulants Phase 3
44 Antifibrinolytic Agents Phase 3
45 Hemostatics Phase 3
46 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
47 Coagulants Phase 3
48 naphthoquinone Phase 3
49 GABA Modulators Phase 3
50 Anesthetics, Intravenous Phase 3

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 A PALG Prospective Multicenter Clinical Trial to Compare the Efficacy of Two Standard Induction Therapies (DA-90 vs DAC) and Two Standard Salvage Regimens (FLAG-IDA vs CLAG-M) in AML Patients ≤ 60 Years Old Unknown status NCT03257241 Phase 3 A arm (DA-90);B arm (DAC);A arm (CLAG-M);B arm (FLAG-IDA)
2 Multicenter, Double-blind, Randomized, Parallel-group, Monotherapy, Active-control Study to Determine the Efficacy and Safety of Daclizumab High Yield Process (DAC HYP) Versus Avonex® (Interferon β 1a) in Patients With Relapsing-Remitting Multiple Sclerosis Completed NCT01064401 Phase 3 Interferon beta-1a Placebo;Daclizumab High Yield Process Placebo
3 A Multicenter, Single-Arm, Open-Label Study to Evaluate the Immunogenicity and Pharmacokinetics of BIIB019, Daclizumab High Yield Process (DAC HYP), Prefilled Syringe Administered by Subcutaneous Injection in Subjects With Relapsing-Remitting Multiple Sclerosis Completed NCT01462318 Phase 3 Midazolam;S-warfarin;Omeprazole;Dextromethorphan
4 Phase 2 Study Electrothermocauterisation of Afghan Patients With Anthroponotic Cutaneous Leishmaniasis With and Without Pharmaceutical Chlorite Listed in the German Drug Codex (DAC N-055) Completed NCT00947362 Phase 2, Phase 3 DAC N-055;saline
5 G-CSF+DAC+BUCY vs. G-CSF+DAC+BF Conditioning Regimen for Patients With RAEB-1, RAEB-2 and AML Secondary to MDS Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Recruiting NCT04713956 Phase 2, Phase 3 Granulocyte Colony-Stimulating Factor(G-CSF);Decitabine (DAC);Busulfan (BU);Cyclophosphamide (CY);Fludarabine (FLU)
6 A Trial for Older Patients With Acute Myeloid Leukaemia and High Risk Myelodysplastic Syndrome Recruiting NCT02272478 Phase 2, Phase 3 Arm A Mylotarg plus DA Versus CPX-351;Arm B Vosaroxin and Decitabine;Arm D Small molecule or Not;Arm C DA V FLAG-Ida V DAC;Arm E CPX-351 (200 V 300);Arm F DA V IDAC
7 A Randomized Phase III Study of Decitabine (DAC) With or Without Hydroxyurea (HY) Versus HY in Patients With Advanced Proliferative Chronic Myelomonocytic Leukemia (CMML) Active, not recruiting NCT02214407 Phase 3 Decitabine;HYDROXYUREA
8 A Phase III, International, Randomized, Controlled Study of Rigosertib Versus Physician's Choice of Treatment in Patients With Myelodysplastic Syndrome After Failure of a Hypomethylating Agent Active, not recruiting NCT02562443 Phase 3 rigosertib;Any approved or standard-of-care therapy;best supportive care (BSC);best supportive care (BSC)
9 A Multicenter, Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of BIIB019, Daclizumab High Yield Process (DAC HYP), Monotherapy in Subjects With Multiple Sclerosis Who Have Completed Study 205MS301 Terminated NCT01797965 Phase 3 BIIB019 (Daclizumab)
10 Mechanical Retrieval and Recanalization of Stroke Clots Using Embolectomy Completed NCT00389467 Phase 2
11 A Phase I/II Study of High-Dose Deoxyazacytidine, Busulfan, and Cyclophosphamide With Allogeneic Stem Cell Transplantation for Hematologic Malignancies Completed NCT00002831 Phase 1, Phase 2 Busulfan;Cyclophosphamide;Cyclosporine;Decitabine (DAC);Methotrexate;Methylprednisolone;Tacrolimus
12 Phase II Open Randomized Clinical & Health Economic Trial Comparing Intralesional Antimony Therapy Versus Wound Care Management in Old World Cutaneous Leishmaniasis Patients in Northern Afghanistan Completed NCT00996463 Phase 2 Sodium Stibogluconate;DAC N-055
13 Phase II Study With Decitabine (5-aza-2'-Deoxycytidine, DAC) in Myelodysplastic Syndromes Completed NCT00003361 Phase 2 decitabine
14 A Multicenter, Open-label, Extension Study to Evaluate the Long Term Safety and Efficacy of Daclizumab High Yield Process (DAC HYP) Monotherapy in Subjects With Multiple Sclerosis Who Have Completed Treatment in Study 205MS202 (SELECTION) Completed NCT01051349 Phase 2
15 Multicenter, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Determine the Safety and Efficacy of Daclizumab HYP (DAC HYP) as a Monotherapy Treatment in Subjects With Relapsing-Remitting Multiple Sclerosis Completed NCT00390221 Phase 2 Placebo
16 A Randomized, Phase II Study Comparing DA (Paclitaxel, Pirarubicin) With DAC ( Paclitaxel, Pirarubicin,Cyclophosphamide) as Postoperative Adjuvant Treatment for Early-stage Breast Cancer Completed NCT02838225 Phase 2 Docetaxel, Doxorubicin;Docetaxel, Doxorubicin, Cyclophosphamide
17 Phase I/II Study of Decitabine (DAC) Followed by Clofarabine, Idarubicin, and Cytarabine (CIA) in Acute Leukemia Completed NCT01794702 Phase 1, Phase 2 Decitabine;Idarubicin;Cytarabine;Clofarabine
18 A Double-Blind, Multicenter, Extension Study to Evaluate the Safety and Efficacy of DAC HYP in Subjects With Multiple Sclerosis Who Have Completed Treatment in Study 205MS201 (SELECT) Completed NCT00870740 Phase 2 Placebo
19 Phase II Randomized Study of Lower Doses of Decitabine (DAC; 20 mg/m2 IV Daily for 3 Days Every Month) Versus Azacitidine (AZA; 75 mg/m2 SC/IV Daily for 3 Days Every Month) in Myelodysplastic Syndrome (MDS) Patients With Low and Intermediate-1 Risk Disease Completed NCT01720225 Phase 2 Decitabine;Azacitidine
20 Prospective Randomized Multicenter Phase II Trial of Low-dose Decitabine (DAC) Administered Alone or in Combination With the Histone Deacetylase Inhibitor Valproic Acid (VPA) and All-trans Retinoic Acid (ATRA) in Patients > 60 Years With Acute Myeloid Leukemia Who Are Ineligible for Induction Chemotherapy Completed NCT00867672 Phase 2 Decitabine;VPA;ATRA
21 Treatment of Malignant Tumors With Antigen Peptide-specific DC-CTL Cells and Decitabine Recruiting NCT04672473 Phase 1, Phase 2
22 Phase II Randomized Study of Lower Doses of Decitabine (DAC; 20 mg/m2 IV Daily for 3 Days Every Month) Versus Azacitidine (AZA; 75 mg/m2 SC/IV Daily for 3 Days Every Month) Versus Azacitidine (AZA; 75 mg/m2 SC/IV Daily for 5 Days Every Month) in MDS Patients With Low and Intermediate-1 Risk Disease Transfusion-Dependent Versus Best Supportive Care (BSC) in MDS Patients With Low and Intermediate-1 Risk Disease Transfusion-Independent Active, not recruiting NCT02269280 Phase 2 Azacitidine (AZA) Days 1 - 3;Decitabine (DAC);Azacitidine (AZA) Days 1 - 5
23 A Phase I/Pilot II Trial Combining Decitabine and Vaccine Therapy for Patients With Relapsed or Refractory Pediatric High Grade Gliomas, Medulloblastomas, and Central Nervous System Primitive Neuroectodermal Tumors (CNS PNETs) Terminated NCT02332889 Phase 1, Phase 2 Decitabine and Hiltonol
24 Study of 111In-DAC as an Medical Imaging Agent for Lung Cancer and Brain Cancer Consistent With Metastatic Lung Cancer Unknown status NCT00040560 Phase 1 111In-DAC
25 Study of 111In-DAC as a Medical Imaging Agent for the Detection of Breast Cancer Unknown status NCT00040430 Phase 1 111In-DAC
26 A Phase I Trial Combining Decitabine and Vaccine Therapy for Patients With Relapsed Neuroblastoma and Sarcoma. Completed NCT01241162 Phase 1
27 A Phase I Study of Triapine in Combination With High Dose Ara-C (Hi-DAC) in Patients With Advanced Hematologic Malignancies Completed NCT00077181 Phase 1 cytarabine;triapine
28 A Phase I Study Of The Toxicities, Biologic And Clinical Effects Of Daily 5 Aza 2'Deoxycytidine (DAC), NSC 127716 (IND 50733) For Four Weeks In Patients With Advanced Malignancies Completed NCT00030615 Phase 1 decitabine
29 A Single-Dose, Single-Blind, Phase 1 Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of BIIB019, Daclizumab High Yield Process (DAC HYP), in Japanese and Caucasian Adult Healthy Volunteers Completed NCT01929746 Phase 1
30 A Phase I Study of the Biologic and Clinical Effects of 5-AZA-2'Deoxycytidine (DAC) in Patients With Advanced Malignancies Completed NCT00002980 Phase 1 decitabine
31 Investigating Mechanism of Action of DAC HYP in the Treatment of High-Inflammatory Multiple Sclerosis (MS) Completed NCT01143441 Phase 1
32 A Phase 1b Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Entospletinib (ENTO) as Monotherapy in Japanese Subjects With Relapsed or Refractory Hematologic Malignancies and in Combination With Chemotherapy in Japanese Subjects With Previously Untreated Acute Myeloid Leukemia (AML) Terminated NCT03135028 Phase 1 Entospletinib;Daunorubicin;Cytarabine
33 A Phase I Study Of Decitabine (DAC) (IND # 50733) In Children With Relapsed Or Refractory Acute Leukemia Terminated NCT00042796 Phase 1 decitabine
34 Phase 1 Study of the Pan-DAC Inhibitor AR-42 and Pazopanib in Advanced Soft Tissue Sarcoma and Renal Cell Carcinoma Terminated NCT02795819 Phase 1 AR-42;Pazopanib
35 A Phase II Study of Omacetaxine (OM) and Decitabine (DAC) in Older Patients With Acute Myelogenous Leukemia (AML) and High-Risk Myelodysplastic Syndrome (MDS) Terminated NCT02141477 Phase 1 Omacetaxine;Decitabine
36 Phase I Evaluation of Adjuvant Oral Decitabine and Tetrahydrouridine With or Without Celecoxib in Patients Undergoing Pulmonary Metastasectomy Withdrawn NCT02839694 Phase 1 decitabine (DAC);Tetrahydrouridine (THU);Celecoxib
37 A Phase I Dose Finding Study of the Pan-DAC Inhibitor Panobinostat (LBH589) in Combination With Etoposide and Cisplatin in the First Line Treatment of Extensive-Stage Small Cell Lung Cancer - An ICORG In-House Study Withdrawn NCT01160731 Phase 1 cisplatin;etoposide phosphate;panobinostat
38 A New Approach to Clinical Implication of Detrusor After-contraction (DAC) Completed NCT01154946
39 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
40 Learning Implementation of Guideline-based Decision Support System for Hypertension Treatment: Testing Alternative Antihypertensive Regimens Using ACE-Inhibitors, Calcium Channel Blockers and Diuretics (LIGHT-ACD) Recruiting NCT03587103
41 Allogeneic HCT Outcomes in MF Patients Exposure to Ruxolitinib During Transplantation Recruiting NCT04526223
42 Single-stage Surgery With Antibiotic-loaded Hydrogel Coated Implants Versus Two Stage Surgery for Secondary Prevention of Complex Chronic Periprosthetic Hip Joint Infection SINBIOSE-H. Not yet recruiting NCT04251377

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 DCN

Anatomical Context for Corneal Dystrophy, Congenital Stromal

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

40
Eye, Endothelial, Myeloid, Lung

Publications for Corneal Dystrophy, Congenital Stromal

Articles related to Corneal Dystrophy, Congenital Stromal:

(show all 22)
# Title Authors PMID Year
1
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. 25 61 6 57
24413633 2014
2
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. 61 6 57 25
16935612 2006
3
A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. 6 25 57
21993463 2011
4
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. 6 25 57
15671264 2005
5
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. 25 57 6
11805522 2002
6
Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination. 57 25 6
5304426 1968
7
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. 25 57 61
26029887 2015
8
[Familial congenital dystrophy of the corneal stroma: Turpin's syndrome (author's transl)]. 57 25
312637 1979
9
Congenital hereditary stromal dystrophy of the cornea. 25 57
350201 1978
10
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. 25 61
20484579 2010
11
About a case of familial parenchymal corneal dystrophy with dominant inheritance. 57
14378991 1955
12
Metabolic reprogramming of murine cardiomyocytes during autophagy requires the extracellular nutrient sensor decorin. 25
30049794 2018
13
Timing, rates and spectra of human germline mutation. 25
26656846 2016
14
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. 25
22870031 2012
15
Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycan. 25
19136671 2009
16
Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction. 25
18463092 2008
17
The Decorin gene 179 allelic variant is associated with a slower progression of renal disease in patients with type 1 diabetes. 25
12187087 2002
18
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). 61
26828927 2016
19
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
20
The galactosaminoglycan-containing decorin and its impact on diseases. 61
22877511 2012
21
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
22
Congenital Stromal Corneal Dystrophy 61
20301741 2008

Variations for Corneal Dystrophy, Congenital Stromal

ClinVar genetic disease variations for Corneal Dystrophy, Congenital Stromal:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCN NM_001920.5(DCN):c.967del (p.Ser323fs) Deletion Pathogenic 16870 rs80338741 GRCh37: 12:91539948-91539948
GRCh38: 12:91146171-91146171
2 DCN NM_001920.5(DCN):c.941del (p.Pro314fs) Deletion Pathogenic 21302 rs80338742 GRCh37: 12:91539974-91539974
GRCh38: 12:91146197-91146197
3 DCN NM_001920.5(DCN):c.947del (p.Gly316fs) Deletion Pathogenic 65663 rs397515545 GRCh37: 12:91539968-91539968
GRCh38: 12:91146191-91146191
4 DCN NM_001920.5(DCN):c.962del (p.Lys321fs) Deletion Pathogenic 126374 rs587777258 GRCh37: 12:91539953-91539953
GRCh38: 12:91146176-91146176
5 DCN NM_001920.5(DCN):c.-180A>T SNV Uncertain significance 310664 rs757178906 GRCh37: 12:91576578-91576578
GRCh38: 12:91182801-91182801
6 DCN NM_001920.5(DCN):c.-187A>G SNV Uncertain significance 310665 rs551534809 GRCh37: 12:91576585-91576585
GRCh38: 12:91182808-91182808
7 DCN NM_001920.5(DCN):c.*289A>T SNV Uncertain significance 310645 rs886049889 GRCh37: 12:91539546-91539546
GRCh38: 12:91145769-91145769
8 DCN NM_001920.5(DCN):c.*148T>G SNV Uncertain significance 310648 rs564091657 GRCh37: 12:91539687-91539687
GRCh38: 12:91145910-91145910
9 DCN NM_001920.5(DCN):c.1062A>T (p.Gln354His) SNV Uncertain significance 310651 rs765239185 GRCh37: 12:91539853-91539853
GRCh38: 12:91146076-91146076
10 DCN NM_001920.4(DCN):c.-307A>G SNV Uncertain significance 310668 rs886049891 GRCh37: 12:91576705-91576705
GRCh38: 12:91182928-91182928
11 DCN NM_001920.5(DCN):c.*443T>G SNV Uncertain significance 310643 rs886049888 GRCh37: 12:91539392-91539392
GRCh38: 12:91145615-91145615
12 DCN NM_001920.5(DCN):c.*220G>C SNV Uncertain significance 310646 rs886049890 GRCh37: 12:91539615-91539615
GRCh38: 12:91145838-91145838
13 DCN NM_001920.5(DCN):c.47_50del (p.Ala16fs) Deletion Uncertain significance 632202 rs1565791154 GRCh37: 12:91572280-91572283
GRCh38: 12:91178503-91178506
14 DCN NM_001920.5(DCN):c.632A>G (p.Asn211Ser) SNV Uncertain significance 881298 GRCh37: 12:91550872-91550872
GRCh38: 12:91157095-91157095
15 DCN NM_001920.5(DCN):c.560A>G (p.Lys187Arg) SNV Uncertain significance 881299 GRCh37: 12:91550944-91550944
GRCh38: 12:91157167-91157167
16 DCN NM_001920.5(DCN):c.*566T>A SNV Uncertain significance 881702 GRCh37: 12:91539269-91539269
GRCh38: 12:91145492-91145492
17 DCN NM_001920.5(DCN):c.210G>A (p.Leu70=) SNV Uncertain significance 881751 GRCh37: 12:91572120-91572120
GRCh38: 12:91178343-91178343
18 DCN NM_001920.5(DCN):c.127G>A (p.Asp43Asn) SNV Uncertain significance 881752 GRCh37: 12:91572203-91572203
GRCh38: 12:91178426-91178426
19 DCN NM_001920.5(DCN):c.*354A>G SNV Uncertain significance 882851 GRCh37: 12:91539481-91539481
GRCh38: 12:91145704-91145704
20 DCN NM_001920.5(DCN):c.*351T>C SNV Uncertain significance 882852 GRCh37: 12:91539484-91539484
GRCh38: 12:91145707-91145707
21 DCN NM_001920.5(DCN):c.*341A>G SNV Uncertain significance 882853 GRCh37: 12:91539494-91539494
GRCh38: 12:91145717-91145717
22 DCN NM_001920.5(DCN):c.*80C>T SNV Uncertain significance 883644 GRCh37: 12:91539755-91539755
GRCh38: 12:91145978-91145978
23 DCN NM_001920.5(DCN):c.1066G>A (p.Gly356Arg) SNV Likely benign 883645 GRCh37: 12:91539849-91539849
GRCh38: 12:91146072-91146072
24 DCN NM_001920.5(DCN):c.555G>T (p.Pro185=) SNV Likely benign 881300 GRCh37: 12:91550949-91550949
GRCh38: 12:91157172-91157172
25 DCN NM_001920.4(DCN):c.-249A>G SNV Likely benign 310666 rs189853358 GRCh37: 12:91576647-91576647
GRCh38: 12:91182870-91182870
26 DCN NM_001920.5(DCN):c.54G>A (p.Pro18=) SNV Likely benign 310662 rs145597441 GRCh37: 12:91572276-91572276
GRCh38: 12:91178499-91178499
27 DCN NM_001920.5(DCN):c.879C>T (p.Tyr293=) SNV Likely benign 310655 rs144307891 GRCh37: 12:91545437-91545437
GRCh38: 12:91151660-91151660
28 DCN NM_001920.5(DCN):c.944C>A (p.Pro315His) SNV Likely benign 310653 rs777270608 GRCh37: 12:91539971-91539971
GRCh38: 12:91146194-91146194
29 DCN NM_001920.4(DCN):c.-325A>G SNV Likely benign 310669 rs147956869 GRCh37: 12:91576723-91576723
GRCh38: 12:91182946-91182946
30 DCN NM_001920.5(DCN):c.621T>G (p.Ile207Met) SNV Likely benign 310657 rs373676217 GRCh37: 12:91550883-91550883
GRCh38: 12:91157106-91157106
31 DCN NM_001920.4(DCN):c.-296C>T SNV Likely benign 310667 rs540013218 GRCh37: 12:91576694-91576694
GRCh38: 12:91182917-91182917
32 DCN NM_001920.5(DCN):c.803C>T (p.Thr268Met) SNV Benign 310656 rs3138268 GRCh37: 12:91545513-91545513
GRCh38: 12:91151736-91151736
33 DCN NM_001920.5(DCN):c.*51A>G SNV Benign 310650 rs1803343 GRCh37: 12:91539784-91539784
GRCh38: 12:91146007-91146007
34 DCN NM_001920.5(DCN):c.*377T>C SNV Benign 310644 rs35379812 GRCh37: 12:91539458-91539458
GRCh38: 12:91145681-91145681
35 DCN NM_001920.5(DCN):c.*160C>T SNV Benign 310647 rs7441 GRCh37: 12:91539675-91539675
GRCh38: 12:91145898-91145898
36 DCN NM_001920.5(DCN):c.282C>T (p.Thr94=) SNV Benign 310660 rs3138221 GRCh37: 12:91558424-91558424
GRCh38: 12:91164647-91164647
37 DCN NM_001920.5(DCN):c.917T>C (p.Val306Ala) SNV Benign 310654 rs73358055 GRCh37: 12:91539998-91539998
GRCh38: 12:91146221-91146221
38 DCN NM_001920.5(DCN):c.975G>A (p.Ser325=) SNV Benign 310652 rs80123678 GRCh37: 12:91539940-91539940
GRCh38: 12:91146163-91146163
39 DCN NM_001920.5(DCN):c.212-6T>C SNV Benign 310661 rs191218249 GRCh37: 12:91558500-91558500
GRCh38: 12:91164723-91164723
40 DCN NM_001920.5(DCN):c.529A>T (p.Ile177Phe) SNV Benign 310658 rs201430261 GRCh37: 12:91552082-91552082
GRCh38: 12:91158305-91158305
41 DCN NM_001920.5(DCN):c.424A>G (p.Lys142Glu) SNV Benign 310659 rs142752401 GRCh37: 12:91552187-91552187
GRCh38: 12:91158410-91158410
42 DCN NM_001920.5(DCN):c.33A>G (p.Ala11=) SNV Benign 310663 rs141738168 GRCh37: 12:91572297-91572297
GRCh38: 12:91178520-91178520
43 DCN NM_001920.5(DCN):c.*105G>A SNV Benign 310649 rs191434778 GRCh37: 12:91539730-91539730
GRCh38: 12:91145953-91145953
44 DCN NM_001920.5(DCN):c.703A>C (p.Arg235=) SNV Benign 730961 rs3138264 GRCh37: 12:91546916-91546916
GRCh38: 12:91153139-91153139
45 DCN NM_001920.5(DCN):c.671C>T (p.Thr224Met) SNV Benign 881297 GRCh37: 12:91546948-91546948
GRCh38: 12:91153171-91153171

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
12.55 LUM KERA FMOD DCN BGN
2
Show member pathways
12.39 LUM FMOD DCN BGN
3
Show member pathways
12.23 LUM KERA FMOD DCN BGN
4
Show member pathways
11.49 LUM KERA FMOD
5
Show member pathways
11.19 LUM KERA FMOD DCN BGN
6 11.01 LUM FMOD DCN BGN
7 10.99 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 space GO:0005615 9.87 MIR224 MIR136 LUM KERA FMOD DCN
2 extracellular matrix GO:0031012 9.63 LUM KERA FMOD EPYC DCN BGN
3 collagen-containing extracellular matrix GO:0062023 9.56 LUM FMOD DCN BGN
4 Golgi lumen GO:0005796 9.35 LUM KERA FMOD DCN BGN
5 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 gene silencing by miRNA GO:0035195 9.73 MIR615 MIR330 MIR224 MIR149 MIR138-1 MIR136
2 negative regulation of stress fiber assembly GO:0051497 9.46 MIR149 MIR138-1
3 chondroitin sulfate biosynthetic process GO:0030206 9.43 DCN BGN
4 chondroitin sulfate catabolic process GO:0030207 9.4 DCN BGN
5 dermatan sulfate biosynthetic process GO:0030208 9.37 DCN BGN
6 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.32 DCN BGN
7 articular cartilage development GO:0061975 9.16 EPYC BGN
8 keratan sulfate biosynthetic process GO:0018146 9.13 LUM KERA FMOD
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 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.55 MIR330 MIR224 MIR149 MIR138-1 MIR136
2 extracellular matrix binding GO:0050840 9.26 DCN BGN
3 glycosaminoglycan binding GO:0005539 9.13 EPYC DCN BGN
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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