MCID: SNW001
MIFTS: 38

Snowflake Vitreoretinal Degeneration malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

Name: Snowflake Vitreoretinal Degeneration 49 11 45 51 65 67
Vitreoretinal Degeneration, Snowflake Type 45 24
Svd 45 67
 
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 45
Swine Vesicular Disease 65


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 193230
Orphanet51 91496
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 C536677
UMLS via Orphanet66 C1860405
MedGen34 C1860405

Summaries for Snowflake Vitreoretinal Degeneration

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UniProtKB/Swiss-Prot:67 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 coronary heart disease 2, and has symptoms including autosomal dominant inheritance, cataract and vitreoretinal degeneration. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 13), and among its related pathways are Platelet activation and Cell adhesion_ECM remodeling. Affiliated tissues include eye and retina, and related mouse phenotypes are hearing/vestibular/ear and immune system.

Description from OMIM:49 193230

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 36)
idRelated DiseaseScoreTop Affiliating Genes
1vitreoretinal degeneration10.8
2coronary heart disease 210.0
3coronary artery disease10.0
4coronary heart disease 510.0
5aortic valve disease 110.0
6coronary heart disease 610.0
7coronary heart disease 410.0
8aortic valve disease 210.0
9coronary heart disease 310.0
10heart valve disease10.0
11hand, foot and mouth disease10.0
12cerebritis10.0
13aortic disease10.0
14congenital heart disease10.0
15coronary stenosis10.0
16lipid metabolism disorder10.0
17mouth disease10.0
18vestibular disease10.0
19eye disease10.0COL2A1, KCNJ13
20marshall syndrome10.0COL11A1, COL2A1
21lutembacher's syndrome10.0COL11A1, COL2A1
22otospondylomegaepiphyseal dysplasia10.0COL11A1, COL2A1
23macrogyria, pseudobulbar palsy and mental retardation10.0COL11A1, COL2A1
24achondrogenesis, type ii or hypochondrogenesis10.0COL11A1, COL2A1
25hyperandrogenism10.0COL11A1, COL2A1
26kniest dysplasia9.9COL11A1, COL2A1
27myasthenic syndrome, congenital, 2a, slow-channel9.9COL11A1, COL2A1
28myositis9.9COL11A1, COL2A1
29cervical serous adenocarcinoma9.9COL11A1, COL2A1, KCNJ13
30hyperhomocysteinemia9.9COL11A1, COL2A1, KCNJ13
31hypochondrogenesis9.9COL11A1, COL2A1, KCNJ13
32retinal disease9.9COL11A1, COL2A1, KCNJ13
33chronic gonococcal salpingitis9.8COL11A1, COL2A1
34myopathy9.8CD55, CXADR
35vitreoretinochoroidopathy dominant9.7COL11A1, COL2A1, COL4A3, KCNJ13
363p- syndrome9.1CD55, COL11A1, COL2A1, COL4A3, CXADR, KCNJ13

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

HPO human phenotypes related to Snowflake Vitreoretinal Degeneration:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cataract HP:0000518
3 vitreoretinal degeneration HP:0000655

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Genetics of Retinal DegenerationsRecruitingNCT00231010

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 Degeneration24

Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

33
Eye, Retina

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9COL11A1, COL2A1, COL4A3
2MP:00053877.5CD55, COL11A1, COL2A1, COL4A3, CXADR

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:

67
id Symbol AA change Variation ID SNP ID
1KCNJ13p.Arg162TrpVAR_043509

Clinvar genetic disease variations for Snowflake Vitreoretinal Degeneration:

5
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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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:00056049.2COL2A1, COL4A3
2collagen trimerGO:00055818.9COL11A1, COL2A1, COL4A3
3endoplasmic reticulum lumenGO:00057888.6COL11A1, 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 13)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:00015029.7COL11A1, COL2A1
2ossificationGO:00015039.7COL11A1, COL2A1
3heart morphogenesisGO:00030079.7COL11A1, COL2A1
4proteoglycan metabolic processGO:00060299.7COL11A1, COL2A1
5inner ear morphogenesisGO:00424729.6COL11A1, COL2A1
6skeletal system morphogenesisGO:00487059.6COL11A1, COL2A1
7cartilage developmentGO:00512169.6COL11A1, COL2A1
8viral entry into host cellGO:00467189.5CD55, CXADR
9collagen fibril organizationGO:00301999.5COL11A1, COL2A1
10sensory perception of soundGO:00076059.2COL11A1, COL2A1, COL4A3
11extracellular matrix disassemblyGO:00226178.9COL11A1, COL2A1, COL4A3
12extracellular matrix organizationGO:00301988.9COL11A1, COL2A1, COL4A3
13collagen catabolic processGO:00305748.6COL11A1, COL2A1, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.3COL4A3, CXADR
2virus receptor activityGO:00016189.3CD55, CXADR
3extracellular matrix structural constituentGO:00052018.9COL11A1, COL2A1, COL4A3

Sources for Snowflake Vitreoretinal Degeneration

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet