MCID: VTR008
MIFTS: 22

Vitreoretinal Degeneration malady

Summaries for Vitreoretinal Degeneration

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33MalaCards
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MalaCards: Vitreoretinal Degeneration is related to snowflake vitreoretinal degeneration and knobloch syndrome. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Cell adhesion ECM remodeling and Non-integrin membrane-ECM interactions. Related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Vitreoretinal Degeneration

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

vitreoretinal degeneration 43 61


Related Diseases for Vitreoretinal Degeneration

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Vitreoretinal Degeneration:



Diseases related to vitreoretinal degeneration

Clinical Features for Vitreoretinal Degeneration

Drugs & Therapeutics for Vitreoretinal Degeneration

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Vitreoretinal Degeneration

Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Degeneration

Search NIH Clinical Center for Vitreoretinal Degeneration

Search CenterWatch for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

Anatomical Context for Vitreoretinal Degeneration

Animal Models for Vitreoretinal Degeneration or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Vitreoretinal Degeneration:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL4A3, COL2A1, COL11A1

Publications for Vitreoretinal Degeneration

Sources:
51PubMed
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Articles related to Vitreoretinal Degeneration:

(show all 32)
idTitleAuthorsYear
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
Snowflake vitreoretinal degeneration: follow-up of the original family. (14644728)
2003
5
Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. (12652248)
2003
6
Goldmann-Favre vitreoretinal degeneration. (12747653)
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
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome? (9747034)
1998
12
Primary congenital ectropion uveae associated with vitreoretinal degeneration. (9438589)
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 spondyloepiphyseal dysplasia congenita. (6807266)
1982
21
Hereditary snowflake vitreoretinal degeneration. (7171777)
1982
22
Vitreoretinal degeneration in facial clefting syndrome. (7171778)
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
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. (6966133)
1980
27
Wagner's vitreoretinal degeneration. (7283320)
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

Genetic Variations for Vitreoretinal Degeneration

Expression for genes affiliated with Vitreoretinal Degeneration

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitreoretinal Degeneration

Search GEO for disease gene expression data for Vitreoretinal Degeneration.

Pathways for genes affiliated with Vitreoretinal Degeneration

Sources:
12EMD Millipore, 54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.6COL4A3, COL2A1
2
Hide members
9.5COL2A1, COL11A1
3
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9.1COL11A1, COL2A1, COL4A3
49.1COL11A1, COL2A1, COL4A3
59.1COL4A3, COL2A1, COL11A1
6
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9.0COL4A3, COL9A2, COL2A1
7
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9.0COL2A1, COL9A2, COL4A3
8
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9.0COL4A3, COL9A2, COL2A1
9
Hide members
7.6COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
10
Hide members
7.6COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
11
Hide members
7.6COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
12
Hide members
7.6COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
137.3KCNJ13, COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
14
Hide members
7.3COL11A1, COL2A1, COL9A2, COL4A3, COL18A1, LEPREL1

Compounds for genes affiliated with Vitreoretinal Degeneration

GO Terms for genes affiliated with Vitreoretinal Degeneration

Sources:
16Gene Ontology
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Cellular components related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056048.1COL2A1, COL4A3, COL18A1, LEPREL1
2extracellular regionGO:0055767.6COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
3endoplasmic reticulum lumenGO:0057887.2LEPREL1, COL18A1, COL4A3, COL9A2, COL2A1, COL11A1

Biological processes related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.7COL2A1, COL11A1
2cartilage condensationGO:0015029.7COL2A1, COL11A1
3collagen fibril organizationGO:0301999.5COL2A1, COL11A1
4inner ear morphogenesisGO:0424729.5COL2A1, COL11A1
5sensory perception of soundGO:0076059.2COL11A1, COL2A1, COL4A3
6axon guidanceGO:0074118.9COL2A1, COL9A2, COL4A3
7visual perceptionGO:0076018.8COL18A1, COL2A1, COL11A1
8negative regulation of cell proliferationGO:0082858.5LEPREL1, COL18A1, COL4A3
9collagen catabolic processGO:0305747.9COL18A1, COL4A3, COL9A2, COL2A1, COL11A1
10extracellular matrix disassemblyGO:0226177.9COL11A1, COL2A1, COL9A2, COL4A3, COL18A1
11extracellular matrix organizationGO:0301987.5COL11A1, COL2A1, COL9A2, COL4A3, COL18A1, LEPREL1

Molecular functions related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.5COL4A3, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300209.1COL9A2, COL2A1

Products for genes affiliated with Vitreoretinal Degeneration

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Sources for Vitreoretinal Degeneration

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet