SVD
MCID: VTR018
MIFTS: 23

Vitreoretinal Degeneration, Snowflake Type (SVD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vitreoretinal Degeneration, Snowflake Type

MalaCards integrated aliases for Vitreoretinal Degeneration, Snowflake Type:

Name: Vitreoretinal Degeneration, Snowflake Type 58 54
Snowflake Vitreoretinal Degeneration 58 54 60 76 38 30 13 6 74
Svd 58 54 76
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 54

Characteristics:

Orphanet epidemiological data:

60
snowflake vitreoretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
vitreoretinal degeneration, snowflake type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 193230
KEGG 38 H02077
MESH via Orphanet 46 C536677
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1860405
Orphanet 60 ORPHA91496
MedGen 43 C1860405
UMLS 74 C1860405

Summaries for Vitreoretinal Degeneration, Snowflake Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 91496Disease definitionSnowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.Visit the Orphanet disease page for more resources.

MalaCards based summary : Vitreoretinal Degeneration, Snowflake Type, also known as snowflake vitreoretinal degeneration, is related to hand, foot and mouth disease and vestibular disease. An important gene associated with Vitreoretinal Degeneration, Snowflake Type is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13). Affiliated tissues include retina and eye, and related phenotypes are optically empty vitreous and cataract

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 193230

Related Diseases for Vitreoretinal Degeneration, Snowflake Type

Diseases related to Vitreoretinal Degeneration, Snowflake Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hand, foot and mouth disease 10.1
2 vestibular disease 10.1
3 mouth disease 10.1
4 cervical intraepithelial neoplasia 10.1
5 vitreoretinal degeneration 10.1

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



Diseases related to Vitreoretinal Degeneration, Snowflake Type

Symptoms & Phenotypes for Vitreoretinal Degeneration, Snowflake Type

Human phenotypes related to Vitreoretinal Degeneration, Snowflake Type:

33
# Description HPO Frequency HPO Source Accession
1 optically empty vitreous 33 occasional (7.5%) HP:0030663
2 cataract 33 HP:0000518
3 vitreoretinopathy 33 HP:0007773

Symptoms via clinical synopsis from OMIM:

58
Eyes:
cataract
very small, yellow-white retinal dots
fibrillar degeneration, gel liquefaction, and thickened cortical vitreous
occasional optically empty vitreous cavity

Clinical features from OMIM:

193230

Drugs & Therapeutics for Vitreoretinal Degeneration, Snowflake Type

Search Clinical Trials , NIH Clinical Center for Vitreoretinal Degeneration, Snowflake Type

Genetic Tests for Vitreoretinal Degeneration, Snowflake Type

Genetic tests related to Vitreoretinal Degeneration, Snowflake Type:

# Genetic test Affiliating Genes
1 Snowflake Vitreoretinal Degeneration 30 KCNJ13

Anatomical Context for Vitreoretinal Degeneration, Snowflake Type

MalaCards organs/tissues related to Vitreoretinal Degeneration, Snowflake Type:

42
Retina, Eye

Publications for Vitreoretinal Degeneration, Snowflake Type

Articles related to Vitreoretinal Degeneration, Snowflake Type:

# Title Authors Year
1
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. ( 23977131 )
2013
2
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. ( 23255580 )
2013
3
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. ( 18179896 )
2008
4
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. ( 15557460 )
2004
5
Snowflake vitreoretinal degeneration: follow-up of the original family. ( 14644728 )
2003
6
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. ( 6626003 )
1983
7
Hereditary snowflake vitreoretinal degeneration. ( 7171777 )
1982

Variations for Vitreoretinal Degeneration, Snowflake Type

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

76
# Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Arg162Trp VAR_043509 rs121918542

ClinVar genetic disease variations for Vitreoretinal Degeneration, Snowflake Type:

6
# 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
2 KCNJ13 NM_002242.4(KCNJ13): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic rs121918542 GRCh38 Chromosome 2, 232768790: 232768790

Expression for Vitreoretinal Degeneration, Snowflake Type

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

Pathways for Vitreoretinal Degeneration, Snowflake Type

GO Terms for Vitreoretinal Degeneration, Snowflake Type

Sources for Vitreoretinal Degeneration, Snowflake Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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