SVD
MCID: SNW001
MIFTS: 38

Snowflake Vitreoretinal Degeneration (SVD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Snowflake Vitreoretinal Degeneration

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MalaCards based summary: Snowflake Vitreoretinal Degeneration, also known as snowflake degeneration in hereditary vitreoretinal degeneration, is related to vitreoretinal degeneration and marshall syndrome, and has symptoms including 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. The compound agarose have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are other and hearing/vestibular/ear.

Description from OMIM:46 193230

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Snowflake Vitreoretinal Degeneration, Aliases & Descriptions:

Name: Snowflake Vitreoretinal Degeneration 42 46 48 62
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 42 62
 
Vitreoretinal Degeneration, Snowflake Type 42 22
Svd 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000


External Ids:

OMIM46 193230
MESH via Orphanet35 C536677
ICD10 via Orphanet26 H35.5
UMLS via Orphanet63 C1860405

Related Diseases for Snowflake Vitreoretinal Degeneration

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1vitreoretinal degeneration10.8
2marshall syndrome10.2COL11A1
3cerebritis10.1
4vestibular disease10.1
5connective tissue disease10.0ABCC6, COL2A1
6stickler syndrome9.9COL11A1, COL2A1
7retinal detachment9.9COL2A1, COL11A1
8cleft palate9.9COL2A1, COL11A1
9myopia 69.8COL2A1, COL11A1
10vitreous syneresis9.8COL2A1, COL11A1, KCNJ13
11sensorineural hearing loss9.7COL4A3, COL11A1

Graphical network of diseases related to Snowflake Vitreoretinal Degeneration:



Diseases related to snowflake vitreoretinal degeneration

Symptoms for Snowflake Vitreoretinal Degeneration

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Symptoms by clinical synopsis from OMIM:

193230

Clinical features from OMIM:

193230

HPO human phenotypes related to Snowflake Vitreoretinal Degeneration:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cataract HP:0000518

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

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Drug clinical trials:

Search ClinicalTrials for Snowflake Vitreoretinal Degeneration

Search NIH Clinical Center for Snowflake Vitreoretinal Degeneration

Genetic Tests for Snowflake Vitreoretinal Degeneration

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Genetic tests related to Snowflake Vitreoretinal Degeneration:

id Genetic test Affiliating Genes
1 Snowflake Vitreoretinal Degeneration22

Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

32
Eye

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1COL4A3, ABCC6
2MP:00053778.5COL2A1, COL11A1, COL4A3
3MP:00053678.4ABCC6, COL4A3, COL2A1
4MP:00053918.2COL2A1, COL4A3, ABCC6

Publications for Snowflake Vitreoretinal Degeneration

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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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UniProtKB/Swiss-Prot genetic disease variations for Snowflake Vitreoretinal Degeneration:

64
id Symbol AA change Variation ID SNP ID
1KCNJ13p.Arg162TrpVAR_043509

Clinvar genetic disease variations for Snowflake Vitreoretinal Degeneration:

6
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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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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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 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
9.0COL2A1, 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 adhesion37
Focal Adhesion37
8.5COL2A1, COL11A1, COL4A3
118.1COL2A1, COL11A1, COL4A3, KCNJ13

Compounds for genes affiliated with Snowflake Vitreoretinal Degeneration

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Sources:
44Novoseek
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Compounds related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose449.3COL2A1, ABCC6

GO Terms for genes affiliated with Snowflake Vitreoretinal Degeneration

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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:0301999.2COL11A1, COL2A1
4inner ear morphogenesisGO:0424729.0COL2A1, COL11A1
5axon guidanceGO:0074119.0COL2A1, COL4A3
6visual perceptionGO:0076018.9ABCC6, COL11A1, COL2A1
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:0301988.5COL2A1, COL11A1, COL4A3

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
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Sources for Snowflake 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