SVD
MCID: SNW001
MIFTS: 34

Snowflake Vitreoretinal Degeneration (SVD) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Snowflake Vitreoretinal Degeneration

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Sources:
48OMIM, 34MalaCards
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MalaCards: Snowflake Vitreoretinal Degeneration, also known as vitreoretinal degeneration, snowflake type, is related to vitreoretinal degeneration and marshall syndrome. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Cell adhesion Integrin mediated cell adhesion and migration and Cell adhesion ECM remodeling. Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:48 193230

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
44NIH Rare Diseases, 48OMIM, 50Orphanet, 63UMLS, 23GTR, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000


Aliases & Descriptions:

snowflake vitreoretinal degeneration 44 48 50 63
vitreoretinal degeneration, snowflake type 44 23
snowflake degeneration in hereditary vitreoretinal degeneration 44
svd 44


External Ids:

OMIM48 193230
MESH via Orphanet37 C536677
ICD10 via Orphanet27 H35.5
UMLS via Orphanet64 C1860405

Related Diseases for Snowflake Vitreoretinal Degeneration

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18GeneCards, 19GeneDecks
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Diseases related to Snowflake Vitreoretinal Degeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vitreoretinal degeneration10.8
2marshall syndrome10.1COL11A1
3cerebritis10.0
4vestibular disease10.0
5stickler syndrome10.0COL2A1, COL11A1
6retinal detachment10.0COL11A1, COL2A1
7cleft palate10.0COL2A1, COL11A1
8myopia 610.0COL2A1, COL11A1
9vitreous syneresis10.0COL2A1, COL11A1, KCNJ13
10sensorineural hearing loss9.9COL11A1, COL4A3

Graphical network of diseases related to Snowflake Vitreoretinal Degeneration:



Diseases related to snowflake vitreoretinal degeneration

Symptoms for Snowflake Vitreoretinal Degeneration

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48OMIM
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Symptoms by clinical synopsis from OMIM:

193230

Clinical features from OMIM:

193230

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Snowflake Vitreoretinal Degeneration

Drug clinical trials:

Search ClinicalTrials for Snowflake Vitreoretinal Degeneration

Search NIH Clinical Center for Snowflake Vitreoretinal Degeneration

Search CenterWatch for Snowflake Vitreoretinal Degeneration

Genetic Tests for Snowflake Vitreoretinal Degeneration

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23GTR
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Genetic tests related to Snowflake Vitreoretinal Degeneration:

id Genetic test Affiliating Genes
1 Snowflake Vitreoretinal Degeneration23

Anatomical Context for Snowflake Vitreoretinal Degeneration

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34MalaCards
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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

34
Eye

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL2A1, COL11A1, COL4A3

Publications for Snowflake Vitreoretinal Degeneration

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Sources:
53PubMed
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Articles related to Snowflake Vitreoretinal Degeneration:

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
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. (6626003)
1983
6
Hereditary snowflake vitreoretinal degeneration. (7171777)
1982

Variations for Snowflake Vitreoretinal Degeneration

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Snowflake Vitreoretinal Degeneration:

65
id Symbol AA change Variation ID SNP ID
1KCNJ13p.Arg162TrpVAR_043509

Clinvar genetic disease variations for Snowflake Vitreoretinal Degeneration:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_002242.4(KCNJ13): c.484C> T (p.Arg162Trp)single nucleotide variantPathogenicrs121918542GRCh37Chr 2, 233633500: 233633500

Expression for genes affiliated with Snowflake Vitreoretinal Degeneration

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Snowflake Vitreoretinal Degeneration

Search GEO for disease gene expression data for Snowflake Vitreoretinal Degeneration.

Pathways for genes affiliated with Snowflake Vitreoretinal Degeneration

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Sources:
51PathCards, 61Thomson Reuters, 13EMD Millipore, 31KEGG, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database
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Pathways related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.0COL2A1, COL4A3
2
Show member pathways
9.0COL4A3, COL2A1
38.5COL4A3, COL11A1, COL2A1
4
Show member pathways
8.5COL4A3, COL11A1, COL2A1
5
Show member pathways
8.5COL2A1, COL11A1, COL4A3
68.5COL2A1, COL11A1, COL4A3
7
Show member pathways
8.5COL2A1, COL11A1, COL4A3
8
Show member pathways
8.5COL2A1, COL11A1, COL4A3
9
Show member pathways
8.5COL2A1, COL11A1, COL4A3
10
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.5COL2A1, COL11A1, COL4A3
118.0COL2A1, COL11A1, COL4A3, KCNJ13

Compounds for genes affiliated with Snowflake Vitreoretinal Degeneration

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GO Terms for genes affiliated with Snowflake Vitreoretinal Degeneration

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17Gene Ontology
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Cellular components related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056048.7COL2A1, COL4A3
2extracellular regionGO:0055768.5COL2A1, COL11A1, COL4A3
3endoplasmic reticulum lumenGO:0057888.4COL2A1, COL11A1, COL4A3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL2A1, COL11A1
3collagen fibril organizationGO:0301999.3COL2A1, COL11A1
4inner ear morphogenesisGO:0424729.2COL11A1, COL2A1
5visual perceptionGO:0076019.0COL2A1, COL11A1
6axon guidanceGO:0074119.0COL2A1, COL4A3
7collagen catabolic processGO:0305748.7COL2A1, COL11A1, COL4A3
8extracellular matrix disassemblyGO:0226178.7COL2A1, COL11A1, COL4A3
9sensory perception of soundGO:0076058.7COL4A3, COL11A1, COL2A1
10extracellular matrix organizationGO:0301988.6COL4A3, COL11A1, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1COL11A1, COL4A3

Products for genes affiliated with Snowflake Vitreoretinal Degeneration

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  • Antibodies
  • Proteins
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Sources for Snowflake Vitreoretinal Degeneration

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet