SVD
MCID: SNW001
MIFTS: 38

Snowflake Vitreoretinal Degeneration (SVD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Snowflake Vitreoretinal Degeneration

Aliases & Descriptions for Snowflake Vitreoretinal Degeneration:

Name: Snowflake Vitreoretinal Degeneration 54 50 56 66 13 69
Vitreoretinal Degeneration, Snowflake Type 54 50 29
Svd 50 66
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 50

Characteristics:

Orphanet epidemiological data:

56
snowflake vitreoretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
snowflake vitreoretinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 193230
Orphanet 56 ORPHA91496
MESH via Orphanet 43 C536677
UMLS via Orphanet 70 C1860405
ICD10 via Orphanet 34 H35.5
MedGen 40 C1860405

Summaries for Snowflake Vitreoretinal Degeneration

UniProtKB/Swiss-Prot : 66 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 marshall syndrome, and has symptoms including cataract, vitreoretinal degeneration and optically empty vitreous. An important gene associated with Snowflake Vitreoretinal Degeneration is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. Affiliated tissues include eye and retina, and related phenotypes are behavior/neurological and digestive/alimentary

Description from OMIM: 193230

Related Diseases for Snowflake Vitreoretinal Degeneration

Graphical network of the top 20 diseases related to Snowflake Vitreoretinal Degeneration:



Diseases related to Snowflake Vitreoretinal Degeneration

Symptoms & Phenotypes for Snowflake Vitreoretinal Degeneration

Symptoms by clinical synopsis from OMIM:

193230

Clinical features from OMIM:

193230

Human phenotypes related to Snowflake Vitreoretinal Degeneration:

32
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 vitreoretinal degeneration 32 HP:0000655
3 optically empty vitreous 32 HP:0030663

MGI Mouse Phenotypes related to Snowflake Vitreoretinal Degeneration:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 KCNJ13 CD55 COL2A1 COL4A3 CXADR
2 digestive/alimentary MP:0005381 9.26 COL11A1 COL2A1 CXADR KCNJ13
3 respiratory system MP:0005388 8.92 COL11A1 COL2A1 CXADR KCNJ13

Drugs & Therapeutics for Snowflake Vitreoretinal Degeneration

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular Genetics of Retinal Degenerations Completed NCT00231010

Search NIH Clinical Center for Snowflake Vitreoretinal Degeneration

Genetic Tests for Snowflake Vitreoretinal Degeneration

Genetic tests related to Snowflake Vitreoretinal Degeneration:

id Genetic test Affiliating Genes
1 Snowflake Vitreoretinal Degeneration 29

Anatomical Context for Snowflake Vitreoretinal Degeneration

MalaCards organs/tissues related to Snowflake Vitreoretinal Degeneration:

39
Eye, Retina

Publications for Snowflake Vitreoretinal Degeneration

Articles related to Snowflake Vitreoretinal Degeneration:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Snowflake Vitreoretinal Degeneration:

66
id Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Arg162Trp VAR_043509 rs121918542

ClinVar genetic disease variations for Snowflake Vitreoretinal Degeneration:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ13 NM_002242.4(KCNJ13): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic rs121918542 GRCh37 Chromosome 2, 233633500: 233633500

Expression for Snowflake Vitreoretinal Degeneration

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

Pathways for Snowflake Vitreoretinal Degeneration

GO Terms for Snowflake Vitreoretinal Degeneration

Cellular components related to Snowflake Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 CD55 COL11A1 COL2A1 COL4A3 CXADR
2 proteinaceous extracellular matrix GO:0005578 9.43 COL11A1 COL2A1 COL4A3
3 basement membrane GO:0005604 9.32 COL2A1 COL4A3
4 endoplasmic reticulum lumen GO:0005788 9.13 COL11A1 COL2A1 COL4A3
5 collagen trimer GO:0005581 8.8 COL11A1 COL2A1 COL4A3

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.51 COL11A1 COL2A1
2 extracellular matrix organization GO:0030198 9.5 COL11A1 COL2A1 COL4A3
3 viral entry into host cell GO:0046718 9.49 CD55 CXADR
4 cartilage development GO:0051216 9.48 COL11A1 COL2A1
5 inner ear morphogenesis GO:0042472 9.46 COL11A1 COL2A1
6 heart morphogenesis GO:0003007 9.43 COL11A1 COL2A1
7 skeletal system morphogenesis GO:0048705 9.4 COL11A1 COL2A1
8 collagen fibril organization GO:0030199 9.37 COL11A1 COL2A1
9 sensory perception of sound GO:0007605 9.33 COL11A1 COL2A1 COL4A3
10 cartilage condensation GO:0001502 9.26 COL11A1 COL2A1
11 proteoglycan metabolic process GO:0006029 8.96 COL11A1 COL2A1
12 collagen catabolic process GO:0030574 8.8 COL11A1 COL2A1 COL4A3

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.16 COL4A3 CXADR
2 virus receptor activity GO:0001618 8.96 CD55 CXADR
3 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 COL4A3

Sources for Snowflake Vitreoretinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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