MCID: SNW001
MIFTS: 30

Snowflake Vitreoretinal Degeneration malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
snowflake vitreoretinal degeneration:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 193230
Orphanet51 91496
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 C536677
UMLS via Orphanet66 C1860405
MedGen34 C1860405
UMLS65 C1860405, C0039010

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 trichuriasis, and has symptoms including vitreoretinal degenerationand cataract. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways is Protein digestion and absorption. Affiliated tissues include eye, retina and prostate.

Description from OMIM:49 193230

Related Diseases for Snowflake Vitreoretinal Degeneration

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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 vitreoretinal degeneration HP:0000655
2 cataract HP:0000518

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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Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

33
Eye, Retina, Prostate, Thymus, Heart

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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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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Pathways related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.9COL11A1, COL4A3, KCNJ13

GO Terms for genes affiliated with Snowflake Vitreoretinal Degeneration

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.3COL11A1, COL4A3
2extracellular matrix disassemblyGO:00226179.3COL11A1, COL4A3
3extracellular matrix organizationGO:00301989.0COL11A1, 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