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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

Name: Snowflake Vitreoretinal Degeneration 52 48 54 70 12 68
Vitreoretinal Degeneration, Snowflake Type 52 48 27
Svd 48 70
 
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 48
Swine Vesicular Disease 68

Characteristics:

Orphanet epidemiological data:

54
snowflake vitreoretinal degeneration:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

64
snowflake vitreoretinal degeneration:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 193230
Orphanet54 ORPHA91496
MESH via Orphanet40 C536677
UMLS via Orphanet69 C1860405
ICD10 via Orphanet31 H35.5
MedGen37 C1860405

Summaries for Snowflake Vitreoretinal Degeneration

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 cataract64 HP:0000518
2 vitreoretinal degeneration64 HP:0000655

MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

41
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

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 Degeneration27

Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

36
Eye, Retina

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:

70
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:000558110.2COL11A1, COL2A1
2basement membraneGO:000560410.1COL2A1, COL4A3
3endoplasmic reticulum lumenGO:00057889.6COL11A1, 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
1cartilage condensationGO:000150210.2COL11A1, COL2A1
2cartilage developmentGO:005121610.2COL11A1, COL2A1
3collagen fibril organizationGO:003019910.2COL11A1, COL2A1
4heart morphogenesisGO:000300710.1COL11A1, COL2A1
5inner ear morphogenesisGO:004247210.1COL11A1, COL2A1
6ossificationGO:000150310.1COL11A1, COL2A1
7proteoglycan metabolic processGO:000602910.1COL11A1, COL2A1
8skeletal system morphogenesisGO:004870510.0COL11A1, COL2A1
9collagen catabolic processGO:00305749.6COL11A1, COL2A1, COL4A3
10extracellular matrix organizationGO:00301989.5COL11A1, COL2A1, COL4A3
11sensory perception of soundGO:00076059.4COL11A1, COL2A1, COL4A3
12viral entry into host cellGO:00467189.1CD55, CXADR

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:000520110.0COL11A1, COL4A3
2integrin bindingGO:00051789.8COL4A3, CXADR
3virus receptor activityGO:00016189.1CD55, CXADR

Sources for Snowflake Vitreoretinal Degeneration

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet