MCID: VTR008
MIFTS: 27

Vitreoretinal Degeneration malady

Rare diseases category
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Summaries for Vitreoretinal Degeneration

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MalaCards based summary: Vitreoretinal Degeneration is related to snowflake vitreoretinal degeneration and retinal detachment. An important gene associated with Vitreoretinal Degeneration is LEPREL1 (leprecan-like 1), and among its related pathways are Cell adhesion Integrin mediated cell adhesion and migration and Cell adhesion ECM remodeling. The compound ascorbic acid have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and hearing/vestibular/ear.

Aliases & Classifications for Vitreoretinal Degeneration

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Vitreoretinal Degeneration, Aliases & Descriptions:

Name: Vitreoretinal Degeneration 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Vitreoretinal Degeneration

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



Diseases related to vitreoretinal degeneration

Symptoms for Vitreoretinal Degeneration

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Drugs & Therapeutics for Vitreoretinal Degeneration

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Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Degeneration

Search NIH Clinical Center for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

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Anatomical Context for Vitreoretinal Degeneration

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Animal Models for Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Vitreoretinal Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8COL2A1, COL4A3, COL18A1
2MP:00053778.5COL2A1, COL11A1, COL4A3
3MP:00053828.5COL2A1, COL11A1, COL18A1
4MP:00053678.5COL18A1, COL4A3, COL2A1

Publications for Vitreoretinal Degeneration

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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

Variations for Vitreoretinal Degeneration

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Expression for genes affiliated with Vitreoretinal Degeneration

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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

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Pathways related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.3COL2A1, COL4A3
2
Show member pathways
9.3COL2A1, COL4A3
39.3COL18A1, COL4A3
48.5COL2A1, COL11A1, COL4A3
58.5COL4A3, COL11A1, COL2A1
6
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.5COL4A3, COL11A1, COL2A1
7
Show member pathways
8.0COL18A1, COL4A3, COL11A1, COL2A1
8
Show member pathways
8.0COL2A1, COL11A1, COL4A3, COL18A1
9
Show member pathways
8.0COL2A1, COL11A1, COL4A3, COL18A1
10
Show member pathways
7.6LEPREL1, COL18A1, COL4A3, COL11A1, COL2A1
11
Show member pathways
7.6LEPREL1, COL18A1, COL4A3, COL11A1, COL2A1
127.5COL2A1, COL11A1, COL4A3, COL18A1, KCNJ13

Compounds for genes affiliated with Vitreoretinal Degeneration

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Sources:
44Novoseek, 24HMDB
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Compounds related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ascorbic acid44 2410.5COL2A1, LEPREL1

GO Terms for genes affiliated with Vitreoretinal Degeneration

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Cellular components related to Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056048.1LEPREL1, COL18A1, COL4A3, COL2A1
2extracellular regionGO:0055768.0COL2A1, COL11A1, COL4A3, COL18A1
3endoplasmic reticulum lumenGO:0057887.5COL2A1, COL11A1, COL4A3, COL18A1, LEPREL1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.2COL2A1, COL11A1
2cartilage condensationGO:0015029.1COL11A1, COL2A1
3inner ear morphogenesisGO:0424729.1COL2A1, COL11A1
4collagen fibril organizationGO:0301998.8COL2A1, COL11A1
5negative regulation of cell proliferationGO:0082858.8COL4A3, COL18A1, LEPREL1
6visual perceptionGO:0076018.7COL2A1, COL11A1, COL18A1
7sensory perception of soundGO:0076058.7COL4A3, COL11A1, COL2A1
8collagen catabolic processGO:0305748.2COL18A1, COL4A3, COL11A1, COL2A1
9extracellular matrix disassemblyGO:0226178.2COL2A1, COL11A1, COL4A3, COL18A1
10extracellular matrix organizationGO:0301987.8COL2A1, COL11A1, COL4A3, COL18A1, LEPREL1

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.3COL4A3, COL18A1
2extracellular matrix structural constituentGO:0052018.7COL11A1, COL4A3

Products for genes affiliated with Vitreoretinal Degeneration

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  • Antibodies
  • Proteins
  • Lysates

Sources for Vitreoretinal Degeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet