SVD
MCID: SNW001
MIFTS: 30

Snowflake Vitreoretinal Degeneration (SVD) malady

Eye diseases category

Summaries for Snowflake Vitreoretinal Degeneration

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Sources:
46OMIM, 32MalaCards
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MalaCards: Snowflake Vitreoretinal Degeneration, also known as vitreoretinal degeneration, snowflake type, is related to cerebritis and vestibular disease. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Non-integrin membrane-ECM interactions and NCAM signaling for neurite out-growth. Affiliated tissues include eye, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:46 193230

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000


Aliases & Descriptions:

snowflake vitreoretinal degeneration 42 46 48 60
vitreoretinal degeneration, snowflake type 42 22
snowflake degeneration in hereditary vitreoretinal degeneration 42
svd 42


External Ids:

OMIM46 193230
MESH via Orphanet35 C536677
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C1860405

Related Diseases for Snowflake Vitreoretinal Degeneration

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Snowflake Vitreoretinal Degeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cerebritis10.0
2vestibular disease10.0
3vitreoretinal dystrophy10.0COL11A1
4marshall syndrome10.0COL11A1
5cataract10.0COL11A1
6short stature10.0COL2A1
7retinal detachment10.0COL2A1, COL11A1
8stickler syndrome10.0COL2A1, COL11A1
9sensorineural hearing loss10.0COL11A1, COL2A1
10myopia 610.0COL2A1, COL11A1
11vitreous syneresis10.0KCNJ13, COL2A1, COL11A1
12cleft palate10.0COL2A1, COL11A1

Graphical network of diseases related to Snowflake Vitreoretinal Degeneration:



Diseases related to snowflake vitreoretinal degeneration

Clinical Features for Snowflake Vitreoretinal Degeneration

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Sources:
46OMIM
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Clinical features from OMIM:

193230

Clinical synopsis from OMIM:

193230

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
22GTR
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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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Sources:
32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL4A3, COL2A1, COL11A1

Publications for Snowflake Vitreoretinal Degeneration

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Genetic Variations for Snowflake Vitreoretinal Degeneration

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Snowflake Vitreoretinal Degeneration:

62
id Symbol AA change Variation ID SNP ID
1KCNJ13p.Arg162TrpVAR_043509

Expression for genes affiliated with Snowflake Vitreoretinal Degeneration

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Sources:
1BioGPS, 15Gene 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:
53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3COL11A1, COL2A1
2
Hide members
9.0COL4A3, COL2A1
3
Cell adhesion ECM remodeling
Hide members
9.0COL2A1, COL4A3
4
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.0COL4A3, COL2A1
5
Hide members
9.0COL4A3, COL2A1
6
Hide members
8.5COL11A1, COL2A1, COL4A3
78.5COL11A1, COL2A1, COL4A3
88.5COL11A1, COL2A1, COL4A3
9
Hide members
8.5COL4A3, COL2A1, COL11A1
10
Hide members
8.5COL4A3, COL2A1, COL11A1
11
Hide members
8.5COL4A3, COL2A1, COL11A1
12
Hide members
8.5COL4A3, COL2A1, COL11A1
13
Hide members
8.5COL4A3, COL2A1, COL11A1
148.0KCNJ13, COL4A3, COL2A1, COL11A1

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.4COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL11A1, COL2A1
3visual perceptionGO:0076019.3COL2A1, COL11A1
4collagen fibril organizationGO:0301999.2COL11A1, COL2A1
5inner ear morphogenesisGO:0424729.0COL2A1, COL11A1
6collagen catabolic processGO:0305748.7COL4A3, COL2A1, COL11A1
7extracellular matrix disassemblyGO:0226178.7COL4A3, COL2A1, COL11A1
8sensory perception of soundGO:0076058.7COL11A1, COL2A1, COL4A3
9extracellular matrix organizationGO:0301988.5COL4A3, COL2A1, COL11A1

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

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

Products for genes affiliated with Snowflake Vitreoretinal Degeneration

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet