MCID: VTR008
MIFTS: 29

Vitreoretinal Degeneration

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Vitreoretinal Degeneration

MalaCards integrated aliases for Vitreoretinal Degeneration:

Name: Vitreoretinal Degeneration 52 36 71

Classifications:



External Ids:

KEGG 36 H00805
UMLS 71 C0344290

Summaries for Vitreoretinal Degeneration

KEGG : 36 The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGN1) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (ADVIRC) are associated with vitreoretinal degeneration.

MalaCards based summary : Vitreoretinal Degeneration is related to wagner syndrome and stickler syndrome. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include eye and bone, and related phenotypes are growth/size/body region and craniofacial

Related Diseases for Vitreoretinal Degeneration

Diseases in the Vitreoretinal Degeneration family:

Secondary Vitreoretinal Degeneration

Diseases related to Vitreoretinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 wagner syndrome 32.8 VCAN COL2A1
2 stickler syndrome 31.2 VCAN COL9A2 COL2A1 COL11A1
3 retinal detachment 30.7 P3H2 KCNJ13 COL9A2 COL2A1 COL18A1 COL11A1
4 myopia 30.5 VCAN P3H2 COL9A2 COL2A1 COL18A1 COL11A1
5 vitreoretinopathy 30.0 VCAN COL2A1
6 vitreoretinal dystrophy 29.9 KCNJ13 COL11A1
7 spondyloepiphyseal dysplasia with congenital joint dislocations 29.5 COL9A2 COL2A1 COL11A1
8 cleft palate, isolated 29.0 COL9A2 COL2A1 COL11A1
9 connective tissue disease 29.0 COL2A1 COL18A1 COL11A1
10 vitreous syneresis 28.7 VCAN KCNJ13 COL9A2 COL2A1 COL11A1
11 fundus dystrophy 28.3 VCAN KCNJ13 COL2A1 COL18A1 COL11A1
12 cataract 27.5 VCAN P3H2 KCNJ13 COL4A3 COL2A1 COL18A1
13 vitreoretinal degeneration, snowflake type 13.0
14 myopia, high, with cataract and vitreoretinal degeneration 12.8
15 secondary vitreoretinal degeneration 12.4
16 wagner vitreoretinopathy 12.3
17 knobloch syndrome 11.8
18 knobloch syndrome 1 11.7
19 stickler syndrome, type i 11.6
20 vitreoretinopathy, neovascular inflammatory 11.6
21 stickler syndrome, type v 11.3
22 joint laxity, short stature, and myopia 10.3
23 yemenite deaf-blind hypopigmentation syndrome 10.2
24 retinal degeneration 10.2
25 night blindness 10.2
26 retinoschisis 1, x-linked, juvenile 10.2
27 vcan-related vitreoretinopathy 10.2
28 leber congenital amaurosis 16 10.1 KCNJ13 GIGYF2
29 dowling-degos disease 1 10.1
30 dwarfism 10.1
31 osteochondrosis 10.0 COL9A2 COL2A1
32 achondrogenesis 10.0 COL9A2 COL2A1
33 diastrophic dysplasia 10.0 COL9A2 COL2A1
34 autosomal recessive stickler syndrome 10.0 COL9A2 COL11A1
35 osteochondritis dissecans 10.0 COL9A2 COL2A1
36 bone deterioration disease 10.0 COL9A2 COL2A1
37 hypertelorism 9.9
38 spondyloepiphyseal dysplasia congenita 9.9
39 corneal endothelial dystrophy 9.9
40 choroideremia 9.9
41 branchiootic syndrome 1 9.9
42 astigmatism 9.9
43 stickler syndrome, type i, nonsyndromic ocular 9.9
44 isolated ectopia lentis 9.9
45 alport syndrome 9.9
46 ectropion 9.9
47 neovascular glaucoma 9.9
48 macular retinal edema 9.9
49 eye disease 9.9
50 peripheral nervous system disease 9.9

Graphical network of the top 20 diseases related to Vitreoretinal Degeneration:



Diseases related to Vitreoretinal Degeneration

Symptoms & Phenotypes for Vitreoretinal Degeneration

MGI Mouse Phenotypes related to Vitreoretinal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 COL11A1 COL2A1 COL4A3 GIGYF2 KCNJ13 P3H2
2 craniofacial MP:0005382 9.65 COL11A1 COL18A1 COL2A1 KCNJ13 P3H2
3 hearing/vestibular/ear MP:0005377 9.26 COL11A1 COL2A1 COL4A3 COL9A2
4 skeleton MP:0005390 9.17 COL11A1 COL18A1 COL2A1 COL9A2 KCNJ13 P3H2

Drugs & Therapeutics for Vitreoretinal Degeneration

Search Clinical Trials , NIH Clinical Center for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

Anatomical Context for Vitreoretinal Degeneration

MalaCards organs/tissues related to Vitreoretinal Degeneration:

40
Eye, Bone

Publications for Vitreoretinal Degeneration

Articles related to Vitreoretinal Degeneration:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome. 61
32111543 2020
2
Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. 61
32050117 2020
3
Three cases of molecularly confirmed Knobloch syndrome. 61
32178553 2020
4
Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1. 61
31607522 2020
5
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. 61
31647904 2019
6
Optical Coherence Tomography in Knobloch Syndrome. 61
31415705 2019
7
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 61
30846767 2019
8
VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. 61
30657523 2019
9
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case. 61
30986125 2019
10
Evaluation of hyaloid-retinal relationship during triamcinolone-assisted vitrectomy for primary rhegmatogenous retinal detachment. 61
29569478 2018
11
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. 61
30765955 2018
12
[Rhegmatogenous retinal detachment : Epidemiology and risk factors]. 61
29352407 2018
13
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. 61
29178892 2017
14
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. 61
28018693 2016
15
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 61
25921210 2015
16
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
17
Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. 61
24698609 2014
18
Focus on Kir7.1: physiology and channelopathy. 61
25558901 2014
19
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 61
23986190 2013
20
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. 61
23255580 2013
21
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. 61
23977131 2013
22
[Clinical features of Goldmann-Favre vitreoretinal degeneration]. 61
22794174 2012
23
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 61
21671392 2011
24
The multiple functions of collagen XVIII in development and disease. 61
21163348 2011
25
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. 61
21072067 2011
26
Cataract surgery in Knobloch syndrome: a case report. 61
21691582 2011
27
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. 61
20799329 2010
28
Pediatric retinal detachment in the Eastern Province of Saudi Arabia: experience of a tertiary care hospital. 61
19700893 2009
29
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. 61
19089441 2009
30
[Goldmann-Favre syndrome--case report]. 61
20169893 2009
31
A novel mutation and phenotypes in phosphodiesterase 6 deficiency. 61
18723146 2008
32
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
33
A phenotypic variant of Knobloch syndrome. 61
18484314 2008
34
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. 61
18516436 2008
35
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 61
18179896 2008
36
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. 61
17975799 2007
37
Physiological role of collagen XVIII and endostatin. 61
15857886 2005
38
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. 61
15557460 2004
39
The ocular manifestations of Weissenbacher-Zweymuller syndrome. 61
15044941 2004
40
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 61
14695535 2004
41
Snowflake vitreoretinal degeneration: follow-up of the original family. 61
14644728 2003
42
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. 61
12707952 2003
43
Goldmann-Favre vitreoretinal degeneration. 61
12747653 2003
44
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 61
12686304 2003
45
Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. 61
12652248 2003
46
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. 61
12511349 2003
47
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. 61
12415512 2002
48
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. 61
12429249 2002
49
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. 61
12208278 2002
50
Ultrastructural characterization of developmental and degenerative vitreo-retinal changes in the eyes of transgenic mice with a deletion mutation in type II collagen gene. 61
12525971 2002

Variations for Vitreoretinal Degeneration

Expression for Vitreoretinal Degeneration

Search GEO for disease gene expression data for Vitreoretinal Degeneration.

Pathways for Vitreoretinal Degeneration

Pathways related to Vitreoretinal Degeneration according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Cell adhesion molecules (CAMs) hsa04514

Pathways related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
2
Show member pathways
13.02 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
3
Show member pathways
12.63 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
4
Show member pathways
12.5 COL9A2 COL4A3 COL2A1 COL11A1
5
Show member pathways
12.23 P3H2 KCNJ13 COL9A2 COL4A3 COL2A1 COL18A1
6
Show member pathways
11.82 COL9A2 COL4A3 COL2A1 COL18A1
7
Show member pathways
11.82 VCAN P3H2 COL9A2 COL4A3 COL2A1 COL18A1
8 11.33 VCAN COL4A3 COL2A1
9 11.25 VCAN COL9A2
10 11.05 COL9A2 COL4A3
11 10.54 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1

GO Terms for Vitreoretinal Degeneration

Cellular components related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
2 extracellular space GO:0005615 9.85 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
3 collagen-containing extracellular matrix GO:0062023 9.73 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
4 extracellular matrix GO:0031012 9.63 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
5 basement membrane GO:0005604 9.62 P3H2 COL4A3 COL2A1 COL18A1
6 collagen trimer GO:0005581 9.35 COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
7 endoplasmic reticulum lumen GO:0005788 9.17 VCAN P3H2 COL9A2 COL4A3 COL2A1 COL18A1

Biological processes related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.54 COL2A1 COL18A1 COL11A1
2 cartilage development GO:0051216 9.49 COL2A1 COL11A1
3 inner ear morphogenesis GO:0042472 9.48 COL2A1 COL11A1
4 heart morphogenesis GO:0003007 9.46 COL2A1 COL11A1
5 collagen fibril organization GO:0030199 9.43 COL2A1 COL11A1
6 skeletal system development GO:0001501 9.43 VCAN COL9A2 COL2A1
7 skeletal system morphogenesis GO:0048705 9.4 COL2A1 COL11A1
8 sensory perception of sound GO:0007605 9.33 COL4A3 COL2A1 COL11A1
9 cartilage condensation GO:0001502 9.32 COL2A1 COL11A1
10 extracellular matrix organization GO:0030198 9.1 VCAN COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
11 proteoglycan metabolic process GO:0006029 8.96 COL2A1 COL11A1

Molecular functions related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.35 COL9A2 COL4A3 COL2A1 COL18A1 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL9A2 COL4A3 COL2A1 COL18A1 COL11A1

Sources for Vitreoretinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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