MCID: VTR008
MIFTS: 30

Vitreoretinal Degeneration

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Vitreoretinal Degeneration

MalaCards integrated aliases for Vitreoretinal Degeneration:

Name: Vitreoretinal Degeneration 49 36 28 69

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

KEGG 36 H00805
UMLS 69 C0344290

Summaries for Vitreoretinal Degeneration

MalaCards based summary : Vitreoretinal Degeneration is related to retinal detachment and spondyloepiphyseal dysplasia congenita. 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. 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 44)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 30.7 COL11A1 COL18A1 COL2A1 KCNJ13
2 spondyloepiphyseal dysplasia congenita 29.1 COL11A1 COL2A1
3 stickler syndrome 28.8 COL11A1 COL2A1 COL9A2
4 vitreoretinal degeneration, snowflake type 12.6
5 myopia, high, with cataract and vitreoretinal degeneration 12.4
6 secondary vitreoretinal degeneration 12.1
7 wagner vitreoretinopathy 12.0
8 knobloch syndrome 1 11.4
9 wagner syndrome 11.2
10 stickler syndrome, type v 11.0
11 stickler syndrome, type i 11.0
12 retinitis 10.1
13 eye degenerative disease 10.1 COL2A1 KCNJ13
14 achondrogenesis 9.9 COL2A1 COL9A2
15 bone deterioration disease 9.9 COL2A1 COL9A2
16 spinal stenosis 9.8 COL2A1 COL9A2
17 autosomal recessive stickler syndrome 9.8 COL11A1 COL9A2
18 alport syndrome, x-linked 9.8
19 congenital ectropion uveae 9.8
20 branchiootic syndrome 1 9.8
21 ectropion 9.8
22 night blindness 9.8
23 neuropathy 9.8
24 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
25 chorioretinitis 9.8
26 cleft lip 9.8
27 knobloch syndrome 9.8
28 passos-bueno syndrome 9.8
29 skeletal dysplasias 9.8
30 marshall syndrome 9.7 COL11A1 COL2A1
31 otospondylomegaepiphyseal dysplasia 9.7 COL11A1 COL2A1
32 macroglossia 9.7 COL11A1 COL2A1
33 achondrogenesis, type ii 9.7 COL11A1 COL2A1
34 hypochondrogenesis 9.7 COL11A1 COL2A1
35 kniest dysplasia 9.7 COL11A1 COL2A1
36 bone development disease 9.7 COL2A1 COL9A2
37 intervertebral disc disease 9.6 COL11A1 COL9A2
38 retinal perforation 9.5 COL11A1 COL2A1 KCNJ13
39 vitreous syneresis 9.5 COL11A1 COL2A1 KCNJ13
40 vitreoretinal dystrophy 9.5 COL11A1 COL2A1 KCNJ13
41 cataract 9.4 COL11A1 KCNJ13 P3H2
42 multiple epiphyseal dysplasia 9.4 COL11A1 COL2A1 COL9A2
43 cleft palate, isolated 9.3 COL11A1 COL2A1
44 myopia 8.7 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 COL2A1 KCNJ13 COL11A1 COL18A1
2 hearing/vestibular/ear MP:0005377 9.46 COL4A3 COL9A2 COL11A1 COL2A1
3 limbs/digits/tail MP:0005371 9.26 COL4A3 COL9A2 COL11A1 COL2A1
4 skeleton MP:0005390 9.02 COL2A1 COL9A2 KCNJ13 COL11A1 COL18A1

Drugs & Therapeutics for Vitreoretinal Degeneration

Search Clinical Trials , NIH Clinical Center for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

Genetic tests related to Vitreoretinal Degeneration:

# Genetic test Affiliating Genes
1 Vitreoretinal Degeneration 28

Anatomical Context for Vitreoretinal Degeneration

Publications for Vitreoretinal Degeneration

Articles related to Vitreoretinal Degeneration:

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

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
13.36 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2
Show member pathways
12.94 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
3
Show member pathways
12.66 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
4
Show member pathways
12.5 COL11A1 COL2A1 COL4A3 COL9A2
5
Show member pathways
12.09 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 P3H2
6
Show member pathways
11.89 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 KCNJ13
7
Show member pathways
11.76 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
8
Show member pathways
11.63 COL18A1 COL2A1 COL4A3 COL9A2
9 11.26 COL2A1 COL4A3
10 11.02 COL4A3 COL9A2
11 10.62 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 region GO:0005576 9.77 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2 proteinaceous extracellular matrix GO:0005578 9.65 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
3 extracellular matrix GO:0031012 9.5 COL11A1 COL18A1 COL2A1
4 basement membrane GO:0005604 9.46 COL18A1 COL2A1 COL4A3 P3H2
5 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 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 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.67 COL18A1 COL4A3 P3H2
2 visual perception GO:0007601 9.54 COL11A1 COL18A1 COL2A1
3 ossification GO:0001503 9.52 COL11A1 COL2A1
4 cartilage development GO:0051216 9.51 COL11A1 COL2A1
5 inner ear morphogenesis GO:0042472 9.48 COL11A1 COL2A1
6 heart morphogenesis GO:0003007 9.46 COL11A1 COL2A1
7 skeletal system morphogenesis GO:0048705 9.43 COL11A1 COL2A1
8 sensory perception of sound GO:0007605 9.43 COL11A1 COL2A1 COL4A3
9 collagen fibril organization GO:0030199 9.4 COL11A1 COL2A1
10 cartilage condensation GO:0001502 9.32 COL11A1 COL2A1
11 collagen catabolic process GO:0030574 9.26 COL11A1 COL18A1 COL2A1 COL4A3
12 proteoglycan metabolic process GO:0006029 9.16 COL11A1 COL2A1
13 extracellular matrix organization GO:0030198 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL2A1 COL9A2
2 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 COL4A3

Sources for Vitreoretinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....