ERVR
MCID: WGN003
MIFTS: 42

Wagner Syndrome (ERVR) malady

Eye diseases category

Summaries for Wagner Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Wagner syndrome is a hereditary eye disease characterized by a central vitreous cavity which appears empty on slit-lamp examination. the condition was named after the swiss ophthalmologist hans wagner, who described a family with this condition in 1938. since then less than 50 families have been described. the first signs usually emerge during early adolescence, but onset may be as early as age 2. wagner syndrome is caused by mutations in the vcan gene. it is inherited in an autosomal dominant manner. last updated: 12/7/2009

MalaCards: Wagner Syndrome, also known as wagner disease, is related to stickler syndrome and cataract. An important gene associated with Wagner Syndrome is VCAN (versican), and among its related pathways are Cell adhesion ECM remodeling and Spinal Cord Injury. The compounds alginate and sulfate have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 Wagner syndrome is a hereditary disorder that causes progressive vision loss. Loss of vision usually begins in adulthood, although some individuals are affected in adolescence. Vision progressively worsens with age.

Description from OMIM:46 143200

Aliases & Classifications for Wagner Syndrome

About this section
Sources:
21Genetics Home Reference, 48Orphanet, 42NIH Rare Diseases, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
wagner disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

wagner syndrome 42 21 48 60
wagner disease 42 20 22 21 48
hyaloideoretinal degeneration of wagner 42 21 60
vcan-related vitreoretinopathy 21 48
erosive vitreoretinopathy 42 20
dominant hyaloideoretinal dystrophy of wagner 48
vitreoretinal degeneration, wagner type 48
wagner vitreoretinal degeneration 21
wagner syndrome type 1 42
wagner syndrome 1 46
ervr 42


External Ids:

OMIM46 143200
MESH via Orphanet35 C536075
ICD10 via Orphanet26 H35.5
SNOMED-CT via Orphanet57 232064001
UMLS via Orphanet61 C0339540, C1840452

Related Diseases for Wagner Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Wagner Syndrome:



Diseases related to wagner syndrome

Clinical Features for Wagner Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

143200

Clinical synopsis from OMIM:

143200

Drugs & Therapeutics for Wagner Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Wagner Syndrome

Drug clinical trials:

Search ClinicalTrials for Wagner Syndrome

Search NIH Clinical Center for Wagner Syndrome

Search CenterWatch for Wagner Syndrome

Genetic Tests for Wagner Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Wagner Syndrome:

id Genetic test Affiliating Genes
1 Wagner Syndrome20 22 VCAN
2 Erosive Vitreoretinopathy20 VCAN

Anatomical Context for Wagner Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Wagner Syndrome:

32
Eye, Retina

Animal Models for Wagner Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Wagner Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5VCAN, COL2A1, COL11A1
2MP:00053828.5COL11A2, COL2A1, COL11A1
3MP:00053778.4COL11A1, COL2A1, COL11A2
4MP:00053908.0VCAN, COL11A2, COL2A1, COL11A1

Publications for Wagner Syndrome

About this section

Genetic Variations for Wagner Syndrome

About this section

Expression for genes affiliated with Wagner Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Wagner Syndrome

Search GEO for disease gene expression data for Wagner Syndrome.

Pathways for genes affiliated with Wagner Syndrome

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN
See all sources

Pathways related to Wagner Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.3VCAN, COL2A1
29.3COL2A1, VCAN
39.0COL11A2, COL2A1
4
Hide members
8.5COL11A1, COL2A1, COL11A2
5
Hide members
8.5COL11A1, COL2A1, COL11A2
6
Hide members
8.5COL11A1, COL2A1, COL11A2
7
Hide members
8.5COL11A2, COL2A1, COL11A1
88.5COL11A2, COL2A1, COL11A1
98.5COL11A2, COL2A1, COL11A1
10
Hide members
8.5COL11A2, COL2A1, COL11A1
118.5COL11A2, COL2A1, COL11A1
12
Hide members
8.5COL11A2, COL2A1, COL11A1
13
Hide members
8.0VCAN, COL11A2, COL2A1, COL11A1

Compounds for genes affiliated with Wagner Syndrome

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Wagner Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alginate449.3VCAN, COL2A1
2sulfate44 2410.3VCAN, COL2A1
3glycosaminoglycan449.0VCAN, COL2A1
4oligonucleotide448.7VCAN, COL2A1, COL11A1

GO Terms for genes affiliated with Wagner Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Wagner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.0COL11A2, COL11A1
2endoplasmic reticulum lumenGO:0057888.2COL11A2, COL2A1, COL11A1
3extracellular regionGO:0055768.0VCAN, COL11A2, COL2A1, COL11A1

Biological processes related to Wagner Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL2A1, COL11A1
3inner ear morphogenesisGO:0424729.4COL2A1, COL11A1
4visual perceptionGO:0076019.3COL2A1, COL11A1
5palate developmentGO:0600219.0COL2A1, COL11A2
6cartilage developmentGO:0512168.9COL11A2, COL2A1
7collagen fibril organizationGO:0301998.7COL11A2, COL2A1, COL11A1
8skeletal system developmentGO:0015018.7COL11A2, COL2A1
9collagen catabolic processGO:0305748.7COL11A1, COL2A1, COL11A2
10extracellular matrix disassemblyGO:0226178.7COL11A2, COL2A1, COL11A1
11sensory perception of soundGO:0076058.7COL11A1, COL2A1, COL11A2
12extracellular matrix organizationGO:0301988.2VCAN, COL11A2, COL2A1, COL11A1

Molecular functions related to Wagner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.1COL11A2, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300208.7COL11A2, COL2A1

Products for genes affiliated with Wagner Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wagner Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet