MCID: SNW001
MIFTS: 32

Snowflake Vitreoretinal Degeneration malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Snowflake Vitreoretinal Degeneration

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MalaCards based summary: Snowflake Vitreoretinal Degeneration, also known as vitreoretinal degeneration, snowflake type, is related to vitreoretinal degeneration and marshall syndrome, and has symptoms including autosomal dominant inheritanceand cataract. 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:45 193230

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Snowflake Vitreoretinal Degeneration, Aliases & Descriptions:

Name: Snowflake Vitreoretinal Degeneration 45 10 41 47 60
Vitreoretinal Degeneration, Snowflake Type 45 41 22
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 41
 
Swine Vesicular Disease 60
Svd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM45 193230
Orphanet47 91496
MESH via Orphanet34 C536677
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C1860405

Related Diseases for Snowflake Vitreoretinal Degeneration

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1vitreoretinal degeneration10.8
2marshall syndrome10.3COL11A1
3hand, foot and mouth disease10.0
4cerebritis10.0
5mouth disease10.0
6vestibular disease10.0
7stickler syndrome10.0COL2A1, COL11A1
8retinal detachment10.0COL11A1, COL2A1
9cleft palate, isolated10.0COL2A1, COL11A1
10myopia9.9COL2A1, COL11A1
11vitreous syneresis9.8COL2A1, COL11A1, KCNJ13
12sensorineural hearing loss9.7COL11A1, 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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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:

31
Eye

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL2A1, COL11A1, COL4A3

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:

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

Clinvar genetic disease variations for Snowflake Vitreoretinal Degeneration:

6
id Gene Variation 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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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 Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.0COL2A1, COL4A3
2
Show member pathways
Metalloproteases in connective tissue degradation
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 adhesion36
Focal Adhesion36
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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Cellular components related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056048.7COL2A1, COL4A3
2extracellular regionGO:00055768.5COL2A1, COL11A1, COL4A3
3endoplasmic reticulum lumenGO:00057888.4COL2A1, COL11A1, COL4A3

Biological processes related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00060299.5COL2A1, COL11A1
2cartilage condensationGO:00015029.4COL2A1, COL11A1
3collagen fibril organizationGO:00301999.3COL2A1, COL11A1
4inner ear morphogenesisGO:00424729.2COL11A1, COL2A1
5visual perceptionGO:00076019.0COL2A1, COL11A1
6axon guidanceGO:00074119.0COL2A1, COL4A3
7collagen catabolic processGO:00305748.7COL2A1, COL11A1, COL4A3
8extracellular matrix disassemblyGO:00226178.7COL2A1, COL11A1, COL4A3
9sensory perception of soundGO:00076058.7COL4A3, COL11A1, COL2A1
10extracellular matrix organizationGO:00301988.6COL4A3, COL11A1, COL2A1

Molecular functions related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1COL11A1, COL4A3

Products for genes affiliated with Snowflake Vitreoretinal Degeneration

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  • Antibodies
  • Proteins
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  • Proteins
  • Kits and Assays

Sources for Snowflake Vitreoretinal Degeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet