MCID: VTR008
MIFTS: 30

Vitreoretinal Degeneration

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vitreoretinal Degeneration

MalaCards integrated aliases for Vitreoretinal Degeneration:

Name: Vitreoretinal Degeneration 20 36 70

Classifications:



External Ids:

KEGG 36 H00805
UMLS 70 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 vitreoretinal degeneration, snowflake type and wagner vitreoretinopathy. 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, bone and endothelial, and related phenotypes are craniofacial and hearing/vestibular/ear

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 vitreoretinal degeneration, snowflake type 33.1 KCNJ13 GIGYF2
2 wagner vitreoretinopathy 32.1 VCAN-AS1 VCAN
3 wagner syndrome 31.4 VCAN-AS1 VCAN COL2A1
4 stickler syndrome, type i 31.4 COL9A2 COL2A1 COL11A1
5 retinal detachment 30.7 P3H2 KCNJ13 COL9A2 COL2A1 COL18A1 COL11A1
6 myopia 30.2 VCAN P3H2 COL9A2 COL2A1 COL18A1 COL11A1
7 vitreoretinal dystrophy 30.0 KCNJ13 COL11A1
8 vcan-related vitreoretinopathy 29.9 VCAN-AS1 VCAN
9 spondyloepiphyseal dysplasia congenita 29.9 COL9A2 COL2A1
10 stickler syndrome 29.8 VCAN-AS1 VCAN COL9A2 COL4A3 COL2A1 COL11A1
11 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 COL9A2 COL2A1 COL11A1
12 vitreoretinopathy 29.6 VCAN-AS1 VCAN COL2A1
13 multiple epiphyseal dysplasia 29.5 COL9A2 COL2A1 COL11A1
14 osteochondrodysplasia 29.3 P3H2 COL9A2 COL2A1 COL11A1
15 cleft palate, isolated 29.2 COL9A2 COL2A1 COL11A1
16 vitreous syneresis 29.0 VCAN KCNJ13 COL9A2 COL2A1 COL11A1
17 cataract 28.9 VCAN P3H2 KCNJ13 COL2A1 COL18A1 COL11A1
18 fundus dystrophy 28.3 VCAN-AS1 VCAN KCNJ13 COL2A1 COL18A1 COL11A1
19 myopia, high, with cataract and vitreoretinal degeneration 11.7
20 knobloch syndrome 11.3
21 secondary vitreoretinal degeneration 11.3
22 knobloch syndrome 1 11.2
23 vitreoretinopathy, neovascular inflammatory 11.1
24 stickler syndrome, type v 11.0
25 yemenite deaf-blind hypopigmentation syndrome 10.2
26 retinal degeneration 10.2
27 night blindness 10.2
28 leber congenital amaurosis 16 10.2 KCNJ13 GIGYF2
29 hypochondrogenesis 10.1 COL9A2 COL2A1
30 autosomal recessive stickler syndrome 10.1 COL9A2 COL11A1
31 fibrochondrogenesis 1 10.0 COL9A2 COL11A1
32 kohler's disease 10.0 COL2A1 COL11A1
33 osteochondrosis 10.0 COL9A2 COL2A1
34 dowling-degos disease 1 10.0
35 retinoschisis 1, x-linked, juvenile 10.0
36 dwarfism 10.0
37 bone deterioration disease 10.0 COL9A2 COL2A1
38 macroglossia 10.0 COL2A1 COL11A1
39 diastrophic dysplasia 10.0 COL9A2 COL2A1
40 retinal perforation 10.0 COL2A1 COL11A1
41 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL2A1 COL11A1
42 bone structure disease 10.0 COL9A2 COL2A1
43 achondrogenesis, type ii 10.0 COL2A1 COL11A1
44 pseudoachondroplasia 10.0 COL9A2 COL2A1
45 intervertebral disc disease 10.0 COL9A2 COL11A1
46 campomelic dysplasia 9.9 COL9A2 COL2A1
47 hypertelorism 9.9
48 corneal endothelial dystrophy 9.9
49 choroideremia 9.9
50 branchiootic syndrome 1 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 COL11A1 COL18A1 COL2A1 KCNJ13 P3H2
2 hearing/vestibular/ear MP:0005377 9.26 COL11A1 COL2A1 COL4A3 COL9A2
3 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, Endothelial

Publications for Vitreoretinal Degeneration

Articles related to Vitreoretinal Degeneration:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene. 61
33570243 2021
2
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. 61
33633367 2021
3
Radiologic Features of Type II and Type XI Collagenopathies. 61
33186059 2021
4
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease. 61
33219695 2021
5
Knobloch syndrome in a patient from Chile. 61
32700429 2020
6
Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome. 61
32111543 2020
7
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
8
Three cases of molecularly confirmed Knobloch syndrome. 61
32178553 2020
9
Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1. 61
31607522 2020
10
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. 61
31647904 2019
11
Optical Coherence Tomography in Knobloch Syndrome. 61
31415705 2019
12
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 61
30846767 2019
13
VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. 61
30657523 2019
14
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case. 61
30986125 2019
15
Evaluation of hyaloid-retinal relationship during triamcinolone-assisted vitrectomy for primary rhegmatogenous retinal detachment. 61
29569478 2018
16
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. 61
30765955 2018
17
[Rhegmatogenous retinal detachment : Epidemiology and risk factors]. 61
29352407 2018
18
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. 61
29178892 2017
19
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations. 61
28018693 2016
20
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 61
25921210 2015
21
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
22
Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. 61
24698609 2014
23
Focus on Kir7.1: physiology and channelopathy. 61
25558901 2014
24
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 61
23986190 2013
25
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. 61
23255580 2013
26
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. 61
23977131 2013
27
[Clinical features of Goldmann-Favre vitreoretinal degeneration]. 61
22794174 2012
28
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 61
21671392 2011
29
The multiple functions of collagen XVIII in development and disease. 61
21163348 2011
30
Cataract surgery in Knobloch syndrome: a case report. 61
21691582 2011
31
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. 61
21072067 2011
32
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. 61
20799329 2010
33
Pediatric retinal detachment in the Eastern Province of Saudi Arabia: experience of a tertiary care hospital. 61
19700893 2009
34
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. 61
19089441 2009
35
[Goldmann-Favre syndrome--case report]. 61
20169893 2009
36
A novel mutation and phenotypes in phosphodiesterase 6 deficiency. 61
18723146 2008
37
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
38
A phenotypic variant of Knobloch syndrome. 61
18484314 2008
39
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. 61
18516436 2008
40
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 61
18179896 2008
41
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. 61
17975799 2007
42
Physiological role of collagen XVIII and endostatin. 61
15857886 2005
43
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. 61
15557460 2004
44
The ocular manifestations of Weissenbacher-Zweymuller syndrome. 61
15044941 2004
45
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 61
14695535 2004
46
Snowflake vitreoretinal degeneration: follow-up of the original family. 61
14644728 2003
47
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. 61
12707952 2003
48
Goldmann-Favre vitreoretinal degeneration. 61
12747653 2003
49
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 61
12686304 2003
50
Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. 61
12652248 2003

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 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 sensory perception of sound GO:0007605 9.43 COL4A3 COL2A1 COL11A1
7 skeletal system morphogenesis GO:0048705 9.4 COL2A1 COL11A1
8 skeletal system development GO:0001501 9.33 VCAN COL9A2 COL2A1
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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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