MCID: WGN003
MIFTS: 37

Wagner Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Wagner Syndrome

MalaCards integrated aliases for Wagner Syndrome:

Name: Wagner Syndrome 50 24 25 29
Hyaloideoretinal Degeneration of Wagner 50 25 69
Wagner Vitreoretinal Degeneration 50 25
Erosive Vitreoretinopathy 50 24
Ervr 50 24
Vcan-Related Vitreoretinopathy 25
Wagner Vitreoretinopathy 25
Wagner Syndrome Type 1 50
Wagner Disease 25
Wgn1 50

Classifications:



Summaries for Wagner Syndrome

NIH Rare Diseases : 50 wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. it is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous), in which it becomes thin and watery and appears empty. the first signs and symptoms usually appear in childhood, but onset may be as early as age 2. signs and symptoms may include: thinning of the light-sensitive tissue that lines the back of the eye (retinal detachment), abnormalities of the blood vessels within the retina (known as the choroid), and degeneration of the retina and choroid. wagner syndrome is caused by mutations in the vcan gene and is inherited in an autosomal dominant manner. treatment varies depending on the signs and symptoms in each individual and may include the use of glasses or contact lenses and vitreoretinal surgery. last updated: 1/23/2017

MalaCards based summary : Wagner Syndrome, also known as hyaloideoretinal degeneration of wagner, is related to vcan-related vitreoretinopathy and wagner syndrome 1. An important gene associated with Wagner Syndrome is VCAN (Versican), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Ticagrelor and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone.

Genetics Home Reference : 25 Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent.

Related Diseases for Wagner Syndrome

Diseases in the Wagner Syndrome family:

Wagner Syndrome 1

Diseases related to Wagner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 vcan-related vitreoretinopathy 12.4
2 wagner syndrome 1 12.2
3 stickler sydrome, type i, nonsyndromic ocular 10.8
4 cataract 9.7
5 stickler syndrome 9.7
6 uveitis 9.7
7 retinitis 9.7
8 retinal detachment 9.7
9 wandering spleen 9.6 COL2A1 VCAN
10 ureter cancer 9.5 COL2A1 VCAN
11 charcot-marie-tooth disease type 5 9.5 COL2A1 VCAN
12 adult-onset still's disease 9.4 COL2A1 VCAN
13 polyglucosan body disease, adult form 9.2 COL2A1 VCAN

Graphical network of the top 20 diseases related to Wagner Syndrome:



Diseases related to Wagner Syndrome

Symptoms & Phenotypes for Wagner Syndrome

Drugs & Therapeutics for Wagner Syndrome

Drugs for Wagner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 134)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 4 274693-27-5 9871419
2 Antibodies Phase 4
3 Immunoglobulins Phase 4
4 Vaccines Phase 4
5 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
6 Anti-HIV Agents Phase 4,Phase 3,Phase 2
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
8 Antiviral Agents Phase 4,Phase 3,Phase 2
9 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
10 Reverse Transcriptase Inhibitors Phase 4,Phase 3
11
Tenofovir Phase 4,Phase 3 147127-20-6 464205
12 Neurotransmitter Agents Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14 Prasugrel hydrochloride Phase 4 389574-19-0
15 Purinergic P2 Receptor Antagonists Phase 4
16 Purinergic P2Y Receptor Antagonists Phase 4
17
Cobicistat Approved Phase 3 1004316-88-4
18
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
19
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
20
Nevirapine Approved Phase 3 129618-40-2 4463
21
Rilpivirine Approved Phase 3 500287-72-9
22
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
23
Fosamprenavir Approved Phase 3 226700-79-4 131536
24
Lopinavir Approved Phase 3 192725-17-0 92727
25
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
26
Saquinavir Approved, Investigational Phase 3 127779-20-8 60787
27
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
28
Didanosine Approved Phase 3 69655-05-6 50599
29
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
30
Zidovudine Approved Phase 3 30516-87-1 35370
31
Cyclophosphamide Approved, Investigational Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
32
Asparaginase Approved Phase 3 9015-68-3
33
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
34
Daunorubicin Approved Phase 3 20830-81-3 30323
35
Etoposide Approved Phase 3 33419-42-0 36462
36
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
37
Pegaspargase Approved, Investigational Phase 3 130167-69-0
38
Thioguanine Approved Phase 3 154-42-7 2723601
39
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
40
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
41
Levoleucovorin Approved Phase 3 68538-85-2
42
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
43
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
46
Doxil Approved June 1999 Phase 3 31703
47 Dermatologic Agents Phase 3,Phase 1,Phase 2
48 Keratolytic Agents Phase 3
49 Cytochrome P-450 CYP3A Inhibitors Phase 3
50 Cytochrome P-450 Enzyme Inhibitors Phase 3

Interventional clinical trials:

(show all 39)

id Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
2 Hyperbaric Oxygen Therapy (HBOT) for Chronic Diabetic Lower Limb Ulcers Completed NCT00621608 Phase 4
3 A Phase 4 Cross-Sectional Study of Bone Mineral Density in HIV-1 Infected Subjects Completed NCT01850212 Phase 4
4 Prospective, Randomized Trial of Ticagrelor Versus Prasugrel in Patients With Acute Coronary Syndrome Recruiting NCT01944800 Phase 4 Ticagrelor;Prasugrel
5 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4 All licensed antiretroviral medications
6 T-Cell Depletion in Unrelated Donor Marrow Transplantation Completed NCT00000591 Phase 3
7 Study to Evaluate Switching From Regimens Consisting of a Nonnucleoside Reverse Transcriptase Inhibitor Plus Emtricitabine and Tenofovir DF to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Completed NCT01495702 Phase 3 NNRTI;FTC/TDF;Stribild
8 Study to Evaluate Switching From Regimens Consisting of a Ritonavir-boosted Protease Inhibitor Plus Emtricitabine/Tenofovir Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, Completed NCT01475838 Phase 3 PI;RTV;FTC/TDF;Stribild
9 Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment Completed NCT01363011 Phase 3 E/C/F/TDF;COBI;ATV;DRV;NRTI
10 Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome Recruiting NCT02521493 Phase 3 Asparaginase;Asparaginase Erwinia chrysanthemi;Cytarabine;Daunorubicin Hydrochloride;Etoposide;Mitoxantrone Hydrochloride;Thioguanine
11 Transplantation of Ex Vivo Expanded, UCB-derived, Stem & Progenitor Cells vs. Unmanipulated UCB for HM Patients Recruiting NCT02730299 Phase 3 NiCord®
12 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
13 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
14 Changes in Lipids and Lipoproteins in HIV Infected Women After Switch From Protease Inhibitor to Raltegravir Completed NCT02097108 Phase 2 Raltegravir
15 CIK-Cells in Relapsing Patients With Acute Leukemia or Myelodysplastic Syndromes After SCT. Recruiting NCT02752243 Phase 1, Phase 2 CIK-Cells
16 Sirolimus and Azacitidine in Treating Patients With High Risk Myelodysplastic Syndrome or Acute Myeloid Leukemia That is Recurrent or Not Eligible for Intensive Chemotherapy Recruiting NCT01869114 Phase 2 Sirolimus;Azacitidine
17 Safety and Efficacy of Two Doses of ATIR101, a T-lymphocyte Enriched Leukocyte Preparation Depleted of Host Alloreactive T-cells, in Patients With a Hematologic Malignancy Who Received a Hematopoietic Stem Cell Transplantation From a Haploidentical Donor Recruiting NCT02500550 Phase 2
18 Selenium and Arsenic Pharmacodynamics Recruiting NCT02377635 Phase 1, Phase 2
19 Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in Treating Patients With High-Risk Hematologic Malignancies Recruiting NCT01760655 Phase 2 Fludarabine phosphate;Thiotepa;Cyclophosphamide;Tacrolimus;Mycophenolate mofetil
20 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
21 Donor Umbilical Cord Blood Transplant By Injection Into the Bone Marrow in Treating Patients With Hematologic Cancer Terminated NCT00295880 Phase 1, Phase 2
22 StemRegenin-1 Expanded vs Unexpanded UCB for High Risk Heme Malignancies Withdrawn NCT02765997 Phase 2
23 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
24 Total Marrow Irradiation for Refractory Acute Leukemia Completed NCT00686556 Phase 1 cyclophosphamide;cyclosporine;Fludarabine;mycophenolate mofetil
25 Safety Study of Human Myeloid Progenitor Cells (CLT-008) After Cord Blood Transplant for Hematologic Malignancy Completed NCT00891137 Phase 1
26 Cognitive Behavioral Therapy to Help HIV Infected Adults With Depression to Adhere to Antiretroviral Therapy Terminated NCT00509340 Phase 1
27 Neurocognitive Function After Therapy of OSAS Unknown status NCT02505620 Early Phase 1
28 Effectiveness of a Jaw Exercise Program in Temporomandibular Disorders Patients Unknown status NCT02397070
29 Sucrose Breath Test to Determine Intestinal Permeability in IBS Completed NCT01674088
30 A Clinical Study of Fundus Findings in Toxaemia of Pregnancy Completed NCT03076619
31 Characterization of Metabolic and Brain Effects of Rising Glucagon During an Oral Glucose Challenge Recruiting NCT03061227 Intravenous glucagon;Intravenous saline
32 PRESSUREwire Study Recruiting NCT02935088
33 Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank Recruiting NCT02951416
34 Neuropsychological and Behavioral Testing in Younger Patients With Cancer Recruiting NCT00772200
35 Pediatric Vasculitis Initiative Recruiting NCT02006134
36 Blood Sample Markers of Reproductive Hormones in Assessing Ovarian Reserve in Younger Patients With Newly Diagnosed Lymphomas Recruiting NCT01793233
37 Hyperbaric Oxygen Therapy Registry Enrolling by invitation NCT02483650
38 Examining Developmental Changes in Heart Contractions of Children With Congenital Heart Defects Terminated NCT00860327
39 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

Search NIH Clinical Center for Wagner Syndrome

Genetic Tests for Wagner Syndrome

Genetic tests related to Wagner Syndrome:

id Genetic test Affiliating Genes
1 Wagner Syndrome 29 24 VCAN

Anatomical Context for Wagner Syndrome

MalaCards organs/tissues related to Wagner Syndrome:

39
Eye, Retina, Bone, Myeloid, T Cells, Testes, Heart

Publications for Wagner Syndrome

Articles related to Wagner Syndrome:

(show all 14)
id Title Authors Year
1
Multimodal Imaging in Wagner Syndrome. ( 27327288 )
2016
2
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes. ( 26284746 )
2015
3
Congenital glaucoma in Wagner syndrome. ( 24767812 )
2014
4
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. ( 22739342 )
2013
5
A family with Wagner syndrome with uveitis and a new versican mutation. ( 24174867 )
2013
6
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. ( 23592912 )
2013
7
De novo splice mutation in the versican gene in a family with Wagner syndrome. ( 23571384 )
2013
8
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. ( 19901218 )
2009
9
Clinical characterisation and molecular analysis of Wagner syndrome. ( 17035272 )
2007
10
Identification of the genetic defect in the original Wagner syndrome family. ( 16636652 )
2006
11
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. ( 16043844 )
2005
12
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. ( 10729292 )
2000
13
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). ( 8317498 )
1993
14
The Wagner syndrome versus hereditary arthroophthalmopathy. ( 7182967 )
1982

Variations for Wagner Syndrome

ClinVar genetic disease variations for Wagner Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 VCAN NM_004385.4(VCAN): c.4004-2A> G single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
2 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
3 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
4 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
5 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088
6 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
7 VCAN NM_004385.4(VCAN): c.9265+2T> A single nucleotide variant Pathogenic rs397515437 GRCh37 Chromosome 5, 82838089: 82838089
8 VCAN NM_004385.4(VCAN): c.4004-1G> C single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
9 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh37 Chromosome 5, 82832820: 82832820
10 VCAN NM_004385.4(VCAN): c.4004-1G> T single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
11 VCAN NM_004385.4(VCAN): c.9265+1G> T single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088

Expression for Wagner Syndrome

Search GEO for disease gene expression data for Wagner Syndrome.

Pathways for Wagner Syndrome

Pathways related to Wagner Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 COL2A1 VCAN
2
Show member pathways
11.91 COL2A1 VCAN
3 11.23 COL2A1 VCAN
4 10.94 COL2A1 VCAN
5 10.41 COL2A1 VCAN

GO Terms for Wagner Syndrome

Cellular components related to Wagner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.16 COL2A1 VCAN
2 extracellular matrix GO:0031012 8.96 COL2A1 VCAN
3 endoplasmic reticulum lumen GO:0005788 8.62 COL2A1 VCAN

Biological processes related to Wagner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL2A1 VCAN
2 skeletal system development GO:0001501 8.96 COL2A1 VCAN
3 central nervous system development GO:0007417 8.62 COL2A1 VCAN

Molecular functions related to Wagner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 VCAN

Sources for Wagner Syndrome

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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