SVD
MCID: VTR018
MIFTS: 27

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 57 53
Snowflake Vitreoretinal Degeneration 57 53 59 74 37 29 13 6 72
Svd 57 53 74
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 53

Characteristics:

Orphanet epidemiological data:

59
snowflake vitreoretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
vitreoretinal degeneration, snowflake type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 193230
KEGG 37 H02077
MESH via Orphanet 45 C536677
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C1860405
Orphanet 59 ORPHA91496
MedGen 42 C1860405
UMLS 72 C1860405

Summaries for Vitreoretinal Degeneration, Snowflake Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 91496DefinitionSnowflake 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 vitreoretinal degeneration and retinal detachment. An important gene associated with Vitreoretinal Degeneration, Snowflake Type is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13). Affiliated tissues include retina and eye, and related phenotypes are optically empty vitreous and cataract

KEGG : 37
Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment. Mutations in KCNJ13 cause SVD.

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 193230

Related Diseases for Vitreoretinal Degeneration, Snowflake Type

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:

32
# Description HPO Frequency HPO Source Accession
1 optically empty vitreous 32 occasional (7.5%) HP:0030663
2 cataract 32 HP:0000518
3 vitreoretinopathy 32 HP:0007773

Symptoms via clinical synopsis from OMIM:

57
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 29 KCNJ13

Anatomical Context for Vitreoretinal Degeneration, Snowflake Type

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

41
Retina, Eye

Publications for Vitreoretinal Degeneration, Snowflake Type

Articles related to Vitreoretinal Degeneration, Snowflake Type:

(show all 13)
# Title Authors PMID Year
1
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 38 8 71
18179896 2008
2
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. 38 71
23255580 2013
3
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. 38 8
15557460 2004
4
Snowflake vitreoretinal degeneration: follow-up of the original family. 38 8
14644728 2003
5
Snowflake degeneration in hereditary vitreoretinal degeneration. 8
4812083 1974
6
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 38
30846767 2019
7
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 38
25921210 2015
8
Focus on Kir7.1: physiology and channelopathy. 38
25558901 2014
9
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. 38
23977131 2013
10
Clinical features of the congenital vitreoretinopathies. 38
18309337 2008
11
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 38
12686304 2003
12
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. 38
6626003 1983
13
Hereditary snowflake vitreoretinal degeneration. 38
7171777 1982

Variations for Vitreoretinal Degeneration, Snowflake Type

ClinVar genetic disease variations for Vitreoretinal Degeneration, Snowflake Type:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ13 NM_002242.4(KCNJ13): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic rs121918542 2:233633500-233633500 2:232768790-232768790

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

74
# Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Arg162Trp VAR_043509 rs121918542

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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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