MCID: VTR008
MIFTS: 29

Vitreoretinal Degeneration

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinal Degeneration

MalaCards integrated aliases for Vitreoretinal Degeneration:

Name: Vitreoretinal Degeneration 54 38 74

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

KEGG 38 H00805
UMLS 74 C0344290

Summaries for Vitreoretinal Degeneration

MalaCards based summary : Vitreoretinal Degeneration is related to myopia, high, with cataract and vitreoretinal degeneration and retinal detachment. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include eye, 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 all 46)
# Related Disease Score Top Affiliating Genes
1 myopia, high, with cataract and vitreoretinal degeneration 34.1 P3H2 P3H2-AS1
2 retinal detachment 31.5 COL11A1 COL18A1 COL2A1 KCNJ13
3 spondyloepiphyseal dysplasia congenita 29.6 COL11A1 COL2A1
4 stickler syndrome 29.5 COL11A1 COL2A1 COL9A2
5 vitreoretinal degeneration, snowflake type 12.8
6 secondary vitreoretinal degeneration 12.3
7 wagner vitreoretinopathy 12.2
8 wagner syndrome 11.7
9 knobloch syndrome 1 11.6
10 stickler syndrome, type i 11.2
11 stickler syndrome, type v 11.2
12 rare isolated myopia 10.2 COL2A1 P3H2
13 eye degenerative disease 10.2 COL2A1 KCNJ13
14 achondrogenesis 10.1 COL2A1 COL9A2
15 leber congenital amaurosis 16 10.1 GIGYF2 KCNJ13
16 bone deterioration disease 10.1 COL2A1 COL9A2
17 spinal stenosis 10.1 COL2A1 COL9A2
18 bone structure disease 10.0 COL2A1 COL9A2
19 bone development disease 10.0 COL2A1 COL9A2
20 autosomal recessive stickler syndrome 9.9 COL11A1 COL9A2
21 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
22 stickler syndrome, type i, nonsyndromic ocular 9.9
23 alport syndrome 9.9
24 ectropion 9.9
25 peripheral nervous system disease 9.9
26 connective tissue disease 9.9
27 night blindness 9.9
28 neuropathy 9.9
29 cleft lip 9.9
30 knobloch syndrome 9.9
31 cleft lip/palate 9.9
32 congenital ectropion uveae 9.9
33 marshall syndrome 9.9 COL11A1 COL2A1
34 otospondylomegaepiphyseal dysplasia 9.9 COL11A1 COL2A1
35 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 COL11A1 COL2A1
36 macroglossia 9.9 COL11A1 COL2A1
37 achondrogenesis, type ii 9.8 COL11A1 COL2A1
38 kniest dysplasia 9.8 COL11A1 COL2A1
39 hypochondrogenesis 9.8 COL11A1 COL2A1
40 multiple epiphyseal dysplasia 9.8 COL2A1 COL9A2
41 retinal perforation 9.7 COL11A1 COL2A1 KCNJ13
42 vitreous syneresis 9.7 COL11A1 COL2A1 KCNJ13
43 vitreoretinal dystrophy 9.7 COL11A1 COL2A1 KCNJ13
44 intervertebral disc disease 9.7 COL11A1 COL9A2
45 donnai-barrow syndrome 9.7 COL11A1 COL18A1 COL2A1
46 myopia 9.3 COL11A1 COL18A1 COL2A1 COL9A2 P3H2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 COL11A1 COL18A1 COL2A1 KCNJ13
2 hearing/vestibular/ear MP:0005377 9.46 COL11A1 COL2A1 COL4A3 COL9A2
3 limbs/digits/tail MP:0005371 9.13 COL11A1 COL2A1 COL9A2
4 skeleton MP:0005390 9.1 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:

42
Eye

Publications for Vitreoretinal Degeneration

Articles related to Vitreoretinal Degeneration:

(show all 34)
# Title Authors Year
1
VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. ( 30657523 )
2019
2
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. ( 23977131 )
2013
3
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. ( 18179896 )
2008
4
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. ( 15557460 )
2004
5
Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. ( 12652248 )
2003
6
Goldmann-Favre vitreoretinal degeneration. ( 12747653 )
2003
7
Snowflake vitreoretinal degeneration: follow-up of the original family. ( 14644728 )
2003
8
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. ( 11812423 )
2002
9
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. ( 12208278 )
2002
10
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. ( 11450497 )
2001
11
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. ( 10333105 )
1999
12
Primary congenital ectropion uveae associated with vitreoretinal degeneration. ( 9438589 )
1998
13
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome? ( 9747034 )
1998
14
Peripheral neuropathy: an unrecognized feature of hereditary vitreoretinal degeneration? ( 8719653 )
1996
15
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. ( 9098284 )
1995
16
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. ( 8484411 )
1993
17
Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment. ( 3721711 )
1986
18
Juvenile vitreoretinal degeneration and retinal detachment. ( 3002098 )
1985
19
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. ( 6626003 )
1983
20
Clinical variability in vitreoretinal degeneration. ( 6873954 )
1983
21
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. ( 6807266 )
1982
22
Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia. ( 7136558 )
1982
23
Hereditary snowflake vitreoretinal degeneration. ( 7171777 )
1982
24
Vitreoretinal degeneration in facial clefting syndrome. ( 7171778 )
1982
25
Chorioretinal dysplasia in young subjects with Wagner's hereditary vitreoretinal degeneration. ( 7228506 )
1981
26
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. ( 6966133 )
1980
27
Wagner's vitreoretinal degeneration. ( 7283320 )
1980
28
Wagner's hereditary vitreoretinal degeneration. ( 7387542 )
1980
29
Vitreoretinal degeneration as a sign of generalized connective tissue diseases. ( 114056 )
1979
30
Vitrectomy and Wagner's vitreoretinal degeneration. ( 434083 )
1979
31
Vitrectomy and Wagner's vitreoretinal degeneration. ( 707593 )
1978
32
Snowflake degeneration in hereditary vitreoretinal degeneration. ( 4812083 )
1974
33
Wagner's hereditary vitreoretinal degeneration and retinal detachment. ( 4691317 )
1973
34
Hereditary vitreoretinal degeneration and night blindness. ( 5305106 )
1969

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:

38
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2
Show member pathways
12.66 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
3
Show member pathways
12.47 COL11A1 COL2A1 COL4A3 COL9A2
4
Show member pathways
12.09 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 P3H2
5
Show member pathways
11.89 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 KCNJ13
6
Show member pathways
11.82 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
7
Show member pathways
11.64 COL18A1 COL2A1 COL4A3 COL9A2
8 11.26 COL2A1 COL4A3
9 11.02 COL4A3 COL9A2
10 10.56 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

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 space GO:0005615 9.77 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2 extracellular matrix GO:0031012 9.65 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
3 endoplasmic reticulum lumen GO:0005788 9.63 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 P3H2
4 collagen-containing extracellular matrix GO:0062023 9.62 COL11A1 COL18A1 COL2A1 COL4A3
5 basement membrane GO:0005604 9.35 COL18A1 COL2A1 COL4A3 COL9A2 P3H2
6 collagen trimer GO:0005581 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.67 COL18A1 COL4A3 P3H2
2 ossification GO:0001503 9.51 COL11A1 COL2A1
3 visual perception GO:0007601 9.5 COL11A1 COL18A1 COL2A1
4 cartilage development GO:0051216 9.48 COL11A1 COL2A1
5 inner ear morphogenesis GO:0042472 9.46 COL11A1 COL2A1
6 heart morphogenesis GO:0003007 9.43 COL11A1 COL2A1
7 collagen fibril organization GO:0030199 9.4 COL11A1 COL2A1
8 skeletal system morphogenesis GO:0048705 9.37 COL11A1 COL2A1
9 sensory perception of sound GO:0007605 9.33 COL11A1 COL2A1 COL4A3
10 cartilage condensation GO:0001502 9.26 COL11A1 COL2A1
11 extracellular matrix organization GO:0030198 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
12 proteoglycan metabolic process GO:0006029 8.96 COL11A1 COL2A1

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 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

Sources for Vitreoretinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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