MCID: SNW001
MIFTS: 40

Snowflake Vitreoretinal Degeneration malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

Name: Snowflake Vitreoretinal Degeneration 50 46 52 68 12 66
Vitreoretinal Degeneration, Snowflake Type 50 46 25
Svd 46 68
 
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 46
Swine Vesicular Disease 66

Characteristics:

Orphanet epidemiological data:

52
snowflake vitreoretinal degeneration:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

62
snowflake vitreoretinal degeneration:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 193230
Orphanet52 ORPHA91496
ICD10 via Orphanet29 H35.5
MESH via Orphanet38 C536677
UMLS via Orphanet67 C1860405
MedGen35 C1860405

Summaries for Snowflake Vitreoretinal Degeneration

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UniProtKB/Swiss-Prot:68 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 tuberculous peritonitis, 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 ECM-receptor interaction and Cell adhesion_ECM remodeling. Affiliated tissues include eye and retina, and related mouse phenotypes are craniofacial and respiratory system.

Description from OMIM:50 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

HPO human phenotypes related to Snowflake Vitreoretinal Degeneration:

id Description Frequency HPO Source Accession
1 cataract HP:0000518
2 vitreoretinal degeneration 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 Degeneration25

Anatomical Context for Snowflake Vitreoretinal Degeneration

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MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

34
Eye, Retina

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL11A1, COL2A1, KCNJ13
2MP:00053888.9COL11A1, COL2A1, KCNJ13
3MP:00053778.9COL11A1, COL2A1, COL4A3
4MP:00053818.7COL11A1, COL2A1, KCNJ13
5MP:00053718.5COL11A1, COL2A1, COL4A3
6MP:00053787.7COL11A1, COL2A1, COL4A3, 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:

68
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
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
1collagen trimerGO:00055819.4COL11A1, COL2A1
2basement membraneGO:00056049.2COL2A1, COL4A3
3endoplasmic reticulum lumenGO:00057888.5COL11A1, COL2A1, COL4A3

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00060299.9COL11A1, COL2A1
2skeletal system morphogenesisGO:00487059.8COL11A1, COL2A1
3cartilage condensationGO:00015029.7COL11A1, COL2A1
4heart morphogenesisGO:00030079.6COL11A1, COL2A1
5cartilage developmentGO:00512169.6COL11A1, COL2A1
6collagen fibril organizationGO:00301999.4COL11A1, COL2A1
7inner ear morphogenesisGO:00424729.3COL11A1, COL2A1
8visual perceptionGO:00076019.3COL11A1, COL2A1
9ossificationGO:00015039.0COL11A1, COL2A1
10collagen catabolic processGO:00305748.9COL11A1, COL2A1, COL4A3
11sensory perception of soundGO:00076058.7COL11A1, COL2A1, COL4A3
12extracellular matrix organizationGO:00301988.4COL11A1, COL2A1, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.0COL11A1, COL4A3

Sources for Snowflake Vitreoretinal Degeneration

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet