WGVRP
MCID: WGN005
MIFTS: 28

Wagner Syndrome 1 (WGVRP) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Wagner Syndrome 1

Aliases & Descriptions for Wagner Syndrome 1:

Name: Wagner Syndrome 1 54 66 13
Hyaloideoretinal Degeneration of Wagner 66 69
Wagner Vitreoretinopathy 54 66
Dominant Hyaloideoretinal Dystrophy of Wagner 56
Vitreoretinal Degeneration, Wagner Type 56
Wagner Vitreoretinal Degeneration 66
Vcan-Related Vitreoretinopathy 56
Erosive Vitreoretinopathy 66
Wagner Syndrome 56
Wagner Disease 56
Wgvrp 66
Ervr 66
Wgn1 66

Characteristics:

Orphanet epidemiological data:

56
wagner disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
wagner syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 143200
Orphanet 56 ORPHA898
MESH via Orphanet 43 C536075
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 70 C0339540 C1840452
MeSH 42 D012162

Summaries for Wagner Syndrome 1

OMIM : 54 Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described... (143200) more...

MalaCards based summary : Wagner Syndrome 1, also known as hyaloideoretinal degeneration of wagner, is related to vcan-related vitreoretinopathy and wagner syndrome, and has symptoms including cataract, optic atrophy and visual field defect. An important gene associated with Wagner Syndrome 1 is VCAN (Versican). The drugs Tenofovir and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include eye and retina.

UniProtKB/Swiss-Prot : 66 Wagner vitreoretinopathy: A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia.

Related Diseases for Wagner Syndrome 1

Diseases in the Wagner Syndrome family:

Wagner Syndrome 1

Diseases related to Wagner Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 vcan-related vitreoretinopathy 12.4
2 wagner syndrome 11.1

Symptoms & Phenotypes for Wagner Syndrome 1

Symptoms by clinical synopsis from OMIM:

143200

Clinical features from OMIM:

143200

Human phenotypes related to Wagner Syndrome 1:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 optic atrophy 32 HP:0000648
3 visual field defect 32 HP:0001123
4 myopia 32 HP:0000545
5 glaucoma 32 HP:0000501
6 visual loss 32 HP:0000572
7 vitreoretinal degeneration 32 HP:0000655
8 chorioretinal atrophy 32 HP:0000533
9 exudative vitreoretinopathy 32 HP:0030490
10 peripheral traction retinal detachment 32 HP:0007643
11 retinal pigment epithelial atrophy 32 HP:0007722
12 optically empty vitreous 32 HP:0030663

Drugs & Therapeutics for Wagner Syndrome 1

Drugs for Wagner Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 151)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
2
Ticagrelor Approved Phase 4 274693-27-5 9871419
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Anti-HIV Agents Phase 4,Phase 3,Phase 2
5 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
6 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
8 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2
9 Neurotransmitter Agents Phase 4
10 Platelet Aggregation Inhibitors Phase 4
11 Prasugrel hydrochloride Phase 4 389574-19-0
12 Purinergic P2 Receptor Antagonists Phase 4
13 Purinergic P2Y Receptor Antagonists Phase 4
14
Cobicistat Approved Phase 3 1004316-88-4
15
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
16
Emtricitabine Approved, Investigational Phase 3,Phase 2 143491-57-0 60877
17
Fosamprenavir Approved Phase 3 226700-79-4 131536
18
Lopinavir Approved Phase 3 192725-17-0 92727
19
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
20
Saquinavir Approved, Investigational Phase 3 127779-20-8 60787
21
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
22
Nevirapine Approved Phase 3 129618-40-2 4463
23
Rilpivirine Approved Phase 3 500287-72-9
24
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
25
Didanosine Approved Phase 3 69655-05-6 50599
26
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
27
Zidovudine Approved Phase 3 30516-87-1 35370
28
Cyclophosphamide Approved, Investigational Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
29
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 83-43-2 6741
30
Prednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 50-24-8 5755
31
Asparaginase Approved Phase 3 9015-68-3
32
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
33
Daunorubicin Approved Phase 3 20830-81-3 30323
34
Etoposide Approved Phase 3 33419-42-0 36462
35
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
36
Thioguanine Approved Phase 3 154-42-7 2723601
37
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
38
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
39
Levoleucovorin Approved Phase 3 68538-85-2
40
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
41
Pegaspargase Approved, Investigational Phase 3 130167-69-0
42
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
43
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
44
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
45
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
46
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
47
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
49
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
50
Doxil Approved June 1999 Phase 3 31703

Interventional clinical trials:

(show all 46)
id Name Status NCT ID Phase
1 Hyperbaric Oxygen Therapy (HBOT) for Chronic Diabetic Lower Limb Ulcers Completed NCT00621608 Phase 4
2 A Phase 4 Cross-Sectional Study of Bone Mineral Density in HIV-1 Infected Subjects Completed NCT01850212 Phase 4
3 Prospective, Randomized Trial of Ticagrelor Versus Prasugrel in Patients With Acute Coronary Syndrome Recruiting NCT01944800 Phase 4
4 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4
5 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
6 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
7 Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment Completed NCT01363011 Phase 3
8 Safety and Efficacy of COBI-boosted Atazanavir Versus Ritonavir-boosted Atazanavir Each Administered With Emtricitabine/Tenofovir Disoproxil Fumarate in HIV-1 Infected, Antiretroviral Treatment-Naive Adults Completed NCT01108510 Phase 3
9 Study to Evaluate the Safety and Efficacy of Stribild Versus Ritonavir-Boosted Atazanavir Plus Truvada in Human Immunodeficiency Virus, Type 1 (HIV-1) Infected, Antiretroviral Treatment-Naive Adults Completed NCT01106586 Phase 3
10 Study of Darunavir/r + Tenofovir/Emtricitabine vs. Darunavir/r + Raltegravir in HIV-infected Antiretroviral naïve Subjects Completed NCT01066962 Phase 3
11 Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome Recruiting NCT02521493 Phase 3
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
13 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
14 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
15 Safety and Efficacy Study of Injectable Cabotegravir Compared to Daily Oral Tenofovir Disoproxil Fumarate/Emtricitabine (TDF/FTC), For Pre-Exposure Prophylaxis in HIV-Uninfected Cisgender Men and Transgender Women Who Have Sex With Men Recruiting NCT02720094 Phase 2, Phase 3
16 Switching From a TDF-Containing Combination Regimen to a TAF-Containing Fixed Dose Combination (FDC) in Virologically-Suppressed, HIV-1 Positive Participants Active, not recruiting NCT01815736 Phase 3
17 Study to Evaluate the Safety and Efficacy of E/C/F/TAF (Genvoya®) Versus E/C/F/TDF (Stribild®) in HIV-1 Positive, Antiretroviral Treatment-Naive Adults Active, not recruiting NCT01780506 Phase 3
18 Open-label Safety Study of E/C/F/TAF (Genvoya®) in HIV-1 Positive Patients With Mild to Moderate Renal Impairment Active, not recruiting NCT01818596 Phase 3
19 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
20 Changes in Lipids and Lipoproteins in HIV Infected Women After Switch From Protease Inhibitor to Raltegravir Completed NCT02097108 Phase 2
21 CIK-Cells in Relapsing Patients With Acute Leukemia or Myelodysplastic Syndromes After SCT. Recruiting NCT02752243 Phase 1, Phase 2
22 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
23 Selenium and Arsenic Pharmacodynamics Recruiting NCT02377635 Phase 1, Phase 2
24 Transplantation of NiCord®, Umbilical Cord Blood-derived Ex Vivo Expanded Cells, in Patients With HM Recruiting NCT01816230 Phase 1, Phase 2
25 Evaluating the Safety and Efficacy of the VRC01 Antibody in Reducing Acquisition of HIV-1 Infection Among Men and Transgender Persons Who Have Sex With Men Recruiting NCT02716675 Phase 2
26 Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in Treating Patients With High-Risk Hematologic Malignancies Recruiting NCT01760655 Phase 2
27 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2
28 StemRegenin-1 Expanded vs Unexpanded UCB for High Risk Heme Malignancies Not yet recruiting NCT02765997 Phase 2
29 Donor Umbilical Cord Blood Transplant By Injection Into the Bone Marrow in Treating Patients With Hematologic Cancer Terminated NCT00295880 Phase 1, Phase 2
30 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
31 Safety Study of Human Myeloid Progenitor Cells (CLT-008) After Cord Blood Transplant for Hematologic Malignancy Completed NCT00891137 Phase 1
32 Evaluating the Safety, Pharmacokinetics, and Anti-Viral Activity of VRC01 and VRC01LS in the Serum and Mucosa of Healthy, HIV-Uninfected Adults Recruiting NCT02797171 Phase 1
33 Evaluating the Immunogenicity of the AIDSVAX B/E Vaccine and the MVA/HIV62B Vaccine in Healthy, HIV-1-Uninfected Adults Who Previously Received MVA/HIV62B in DNA/MVA or MVA/MVA Regimens in HVTN 205 Recruiting NCT02852005 Phase 1
34 Nivolumab and Ipilimumab in Treating Patients With HIV Associated Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02408861 Phase 1
35 Total Marrow Irradiation for Refractory Acute Leukemia Active, not recruiting NCT00686556 Phase 1
36 Cognitive Behavioral Therapy to Help HIV Infected Adults With Depression to Adhere to Antiretroviral Therapy Terminated NCT00509340 Phase 1
37 Effectiveness of a Jaw Exercise Program in Temporomandibular Disorders Patients Unknown status NCT02397070
38 A Clinical Study of Fundus Findings in Toxaemia of Pregnancy Completed NCT03076619
39 Characterization of Metabolic and Brain Effects of Rising Glucagon During an Oral Glucose Challenge Recruiting NCT03061227
40 Neurocognitive Function After Therapy of OSAS Recruiting NCT02505620 Early Phase 1
41 Neuropsychological and Behavioral Testing in Younger Patients With Cancer Recruiting NCT00772200
42 Blood Sample Markers of Reproductive Hormones in Assessing Ovarian Reserve in Younger Patients With Newly Diagnosed Lymphomas Recruiting NCT01793233
43 LEADERS FREE II: BioFreedom™ Pivotal Study Recruiting NCT02843633
44 Pediatric Vasculitis Initiative Recruiting NCT02006134
45 Study of Kidney Tumors in Younger Patients Recruiting NCT00898365
46 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628

Search NIH Clinical Center for Wagner Syndrome 1

Genetic Tests for Wagner Syndrome 1

Genetic tests related to Wagner Syndrome 1:

id Genetic test Affiliating Genes
1 Erosive Vitreoretinopathy 24 VCAN

Anatomical Context for Wagner Syndrome 1

MalaCards organs/tissues related to Wagner Syndrome 1:

39
Eye, Retina

Publications for Wagner Syndrome 1

Variations for Wagner Syndrome 1

ClinVar genetic disease variations for Wagner Syndrome 1:

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 1

Search GEO for disease gene expression data for Wagner Syndrome 1.

Pathways for Wagner Syndrome 1

GO Terms for Wagner Syndrome 1

Sources for Wagner Syndrome 1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....