SVD
MCID: SNW001
MIFTS: 27

Snowflake Vitreoretinal Degeneration (SVD) malady

Eye category

Summaries for Snowflake Vitreoretinal Degeneration

Sources:
47OMIM, 33MalaCards
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MalaCards: Snowflake Vitreoretinal Degeneration, also known as vitreoretinal degeneration, snowflake type, is related to vitreoretinal degeneration and vestibular disease. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are Non-integrin membrane-ECM interactions and NCAM signaling for neurite out-growth. Related mouse phenotype hearing/vestibular/ear.

Description from OMIM:47 193230

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
snowflake vitreoretinal degeneration:
Prevalence: <1/1000000


Aliases & Descriptions:

snowflake vitreoretinal degeneration 43 47 49 61
vitreoretinal degeneration, snowflake type 43 22
snowflake degeneration in hereditary vitreoretinal degeneration 43
svd 43


External Ids:

OMIM47 193230
MESH via Orphanet36 C536677
ICD10 via Orphanet26 H35.5
UMLS via Orphanet62 C1860405

Related Diseases for Snowflake Vitreoretinal Degeneration

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Snowflake Vitreoretinal Degeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1vitreoretinal degeneration10.7
2vestibular disease10.0
3vitreoretinal dystrophy10.0COL11A1
4marshall syndrome10.0COL11A1
5cataract10.0COL11A1
6short stature10.0COL2A1
7retinal detachment10.0COL2A1, COL11A1
8stickler syndrome10.0COL2A1, COL11A1
9sensorineural hearing loss10.0COL11A1, COL2A1
10myopia 610.0COL2A1, COL11A1
11vitreous syneresis10.0KCNJ13, COL2A1, COL11A1
12cleft palate10.0COL2A1, COL11A1

Graphical network of diseases related to Snowflake Vitreoretinal Degeneration:



Diseases related to snowflake vitreoretinal degeneration

Clinical Features for Snowflake Vitreoretinal Degeneration

Sources:
47OMIM
See all sources

Clinical features from OMIM:

193230

Clinical synopsis from OMIM:

193230

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Snowflake Vitreoretinal Degeneration

Drug clinical trials:

Search ClinicalTrials for Snowflake Vitreoretinal Degeneration

Search NIH Clinical Center for Snowflake Vitreoretinal Degeneration

Search CenterWatch for Snowflake Vitreoretinal Degeneration

Genetic Tests for Snowflake Vitreoretinal Degeneration

Sources:
22GTR
See all sources

Genetic tests related to Snowflake Vitreoretinal Degeneration:

id Genetic test Affiliating Genes
1 Snowflake Vitreoretinal Degeneration22

Anatomical Context for Snowflake Vitreoretinal Degeneration

Animal Models for Snowflake Vitreoretinal Degeneration or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL4A3, COL2A1, COL11A1

Publications for Snowflake Vitreoretinal Degeneration

Sources:
51PubMed
See all sources

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
7
Snowflake degeneration in hereditary vitreoretinal degeneration. (4812083)
1974

Genetic Variations for Snowflake Vitreoretinal Degeneration

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Snowflake Vitreoretinal Degeneration:

63
id Symbol AA change Variation SNP ID
1KCNJ13p.Arg162TrpVAR_043509

Expression for genes affiliated with Snowflake Vitreoretinal Degeneration

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Snowflake Vitreoretinal Degeneration

Search GEO for disease gene expression data for Snowflake Vitreoretinal Degeneration.

Pathways for genes affiliated with Snowflake Vitreoretinal Degeneration

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database
See all sources

Pathways related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3COL11A1, COL2A1
2
Hide members
9.0COL4A3, COL2A1
3
Cell adhesion ECM remodeling
Hide members
9.0COL2A1, COL4A3
4
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.0COL4A3, COL2A1
5
Hide members
9.0COL4A3, COL2A1
6
Hide members
8.5COL11A1, COL2A1, COL4A3
78.5COL11A1, COL2A1, COL4A3
88.5COL11A1, COL2A1, COL4A3
9
Hide members
8.5COL4A3, COL2A1, COL11A1
10
Hide members
8.5COL4A3, COL2A1, COL11A1
11
Hide members
8.5COL4A3, COL2A1, COL11A1
12
Hide members
8.5COL4A3, COL2A1, COL11A1
13
Hide members
8.5COL4A3, COL2A1, COL11A1
148.0KCNJ13, COL4A3, COL2A1, COL11A1

Compounds for genes affiliated with Snowflake Vitreoretinal Degeneration

GO Terms for genes affiliated with Snowflake Vitreoretinal Degeneration

Sources:
16Gene Ontology
See all sources

Cellular components related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056048.7COL4A3, COL2A1
2extracellular regionGO:0055768.5COL4A3, COL2A1, COL11A1
3endoplasmic reticulum lumenGO:0057888.4COL4A3, COL2A1, COL11A1

Biological processes related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.4COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL11A1, COL2A1
3visual perceptionGO:0076019.3COL2A1, COL11A1
4collagen fibril organizationGO:0301999.2COL11A1, COL2A1
5inner ear morphogenesisGO:0424729.0COL2A1, COL11A1
6collagen catabolic processGO:0305748.7COL4A3, COL2A1, COL11A1
7extracellular matrix disassemblyGO:0226178.7COL4A3, COL2A1, COL11A1
8sensory perception of soundGO:0076058.7COL11A1, COL2A1, COL4A3
9extracellular matrix organizationGO:0301988.5COL4A3, COL2A1, COL11A1

Molecular functions related to Snowflake Vitreoretinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1COL4A3, COL11A1

Products for genes affiliated with Snowflake Vitreoretinal Degeneration

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Snowflake Vitreoretinal Degeneration

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet