MCID: SNW001
MIFTS: 39

Snowflake Vitreoretinal Degeneration malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

Name: Snowflake Vitreoretinal Degeneration 51 47 53 69 12 67
Vitreoretinal Degeneration, Snowflake Type 51 47 26
Svd 47 69
 
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 47
Swine Vesicular Disease 67

Characteristics:

Orphanet epidemiological data:

53
snowflake vitreoretinal degeneration:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

63
snowflake vitreoretinal degeneration:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 193230
Orphanet53 ORPHA91496
MESH via Orphanet39 C536677
UMLS via Orphanet68 C1860405
ICD10 via Orphanet30 H35.5
MedGen36 C1860405

Summaries for Snowflake Vitreoretinal Degeneration

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UniProtKB/Swiss-Prot:69 Snowflake vitreoretinal degeneration: Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.

MalaCards based summary: Snowflake Vitreoretinal Degeneration, also known as vitreoretinal degeneration, snowflake type, is related to vitreoretinal degeneration and bagassosis, and has symptoms including cataract and vitreoretinal degeneration. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways are Cell adhesion_ECM remodeling and Degradation of the extracellular matrix. Affiliated tissues include eye and retina, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Description from OMIM:51 193230

Related Diseases for Snowflake Vitreoretinal Degeneration

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Graphical network of the top 20 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

Human phenotypes related to Snowflake Vitreoretinal Degeneration:

 63
id Description HPO Frequency HPO Source Accession
1 cataract63 HP:0000518
2 vitreoretinal degeneration63 HP:0000655

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Genetics of Retinal DegenerationsCompletedNCT00231010

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 Degeneration26

Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

35
Eye, Retina

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6COL11A1, COL2A1, COL4A3
2MP:00053819.3COL11A1, COL2A1, CXADR, KCNJ13
3MP:00053888.6COL11A1, COL2A1, CXADR, KCNJ13
4MP:00053868.3CD55, COL2A1, COL4A3, CXADR, KCNJ13

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:

69
id Symbol AA change Variation ID SNP ID
1KCNJ13p.Arg162TrpVAR_043509rs121918542

Clinvar genetic disease variations for Snowflake Vitreoretinal Degeneration:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNJ13NM_002242.4(KCNJ13): c.484C> T (p.Arg162Trp)SNVPathogenicrs121918542GRCh37Chr 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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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
1collagen trimerGO:000558110.0COL11A1, COL2A1
2basement membraneGO:00056049.8COL2A1, COL4A3
3endoplasmic reticulum lumenGO:00057889.0COL11A1, COL2A1, COL4A3
4extracellular regionGO:00055767.5CD55, COL11A1, COL2A1, COL4A3, CXADR

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.0COL11A1, COL2A1
2skeletal system morphogenesisGO:00487059.9COL11A1, COL2A1
3cartilage condensationGO:00015029.9COL11A1, COL2A1
4cartilage developmentGO:00512169.8COL11A1, COL2A1
5ossificationGO:00015039.7COL11A1, COL2A1
6inner ear morphogenesisGO:00424729.6COL11A1, COL2A1
7heart morphogenesisGO:00030079.6COL11A1, COL2A1
8collagen fibril organizationGO:00301999.5COL11A1, COL2A1
9collagen catabolic processGO:00305749.2COL11A1, COL2A1, COL4A3
10viral entry into host cellGO:00467189.1CD55, CXADR
11sensory perception of soundGO:00076058.8COL11A1, COL2A1, COL4A3
12extracellular matrix organizationGO:00301988.6COL11A1, COL2A1, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7COL11A1, COL4A3
2virus receptor activityGO:00016189.1CD55, CXADR
3integrin bindingGO:00051789.0COL4A3, CXADR

Sources for Snowflake Vitreoretinal Degeneration

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet