SVD
MCID: VTR018
MIFTS: 37

Vitreoretinal Degeneration, Snowflake Type (SVD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vitreoretinal Degeneration, Snowflake Type

MalaCards integrated aliases for Vitreoretinal Degeneration, Snowflake Type:

Name: Vitreoretinal Degeneration, Snowflake Type 57 12 20
Snowflake Vitreoretinal Degeneration 57 12 20 58 73 36 29 13 6 44 15 71
Svd 57 12 20 73
Snowflake Degeneration in Hereditary Vitreoretinal Degeneration 20

Characteristics:

Orphanet epidemiological data:

58
snowflake vitreoretinal degeneration
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
vitreoretinal degeneration, snowflake type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111570
OMIM® 57 193230
KEGG 36 H02077
MeSH 44 C536677
MESH via Orphanet 45 C536677
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1860405
Orphanet 58 ORPHA91496
MedGen 41 C1860405
UMLS 71 C1860405

Summaries for Vitreoretinal Degeneration, Snowflake Type

GARD : 20 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), and among its related pathways/superpathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye and retina, and related phenotypes are optically empty vitreous and cataract

Disease Ontology : 12 An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has material basis in heterozygous mutation in KCNJ13 on chromosome 2q37.1.

KEGG : 36 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 : 73 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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration 32.0 KCNJ13 GIGYF2
2 retinal detachment 10.5
3 vitreous syneresis 10.3
4 leber congenital amaurosis 16 10.2 KCNJ13 GIGYF2
5 vitreoretinal dystrophy 10.2 LCP1 KCNJ13
6 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.2 KCNJ13 KCNJ12 KCNJ1
7 bartter disease 10.2 KCNJ15 KCNJ13 KCNJ12 KCNJ1
8 corneal endothelial dystrophy 10.2
9 stickler syndrome 10.2
10 retinal degeneration 10.2
11 night blindness 10.2
12 vitreoretinopathy 10.2
13 floating-harbor syndrome 10.1 H2AC18 CRIPT
14 arthrogryposis, distal, type 3 10.1 KCNJ1 H2AC18
15 cardiac conduction defect 9.8
16 migraine with or without aura 1 9.8
17 myeloma, multiple 9.8
18 macular degeneration, age-related, 1 9.8
19 ventricular fibrillation, paroxysmal familial, 1 9.8
20 respiratory rhythmicity in sleep 9.8
21 disease by infectious agent 9.8
22 primary progressive multiple sclerosis 9.8
23 kuhnt-junius degeneration 9.8
24 hand, foot and mouth disease 9.8
25 vestibular neuronitis 9.8
26 benign paroxysmal positional nystagmus 9.8
27 neuritis 9.8
28 relapsing-remitting multiple sclerosis 9.8
29 glioblastoma 9.8
30 vestibular disease 9.8
31 mouth disease 9.8
32 somatoform disorder 9.8
33 myocarditis 9.8
34 cervix uteri carcinoma in situ 9.8
35 cervical intraepithelial neoplasia 9.8
36 epilepsy with myoclonic-atonic seizures 9.8

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:

31
# Description HPO Frequency HPO Source Accession
1 optically empty vitreous 31 occasional (7.5%) HP:0030663
2 cataract 31 HP:0000518
3 vitreoretinopathy 31 HP:0007773
4 retinal dots 31 HP:0032027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Vitreoretinal Degeneration, Snowflake Type

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

Cochrane evidence based reviews: snowflake vitreoretinal degeneration

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:

40
Eye, Retina

Publications for Vitreoretinal Degeneration, Snowflake Type

Articles related to Vitreoretinal Degeneration, Snowflake Type:

(show all 15)
# Title Authors PMID Year
1
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. 57 6 61
18179896 2008
2
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy. 61 6
23255580 2013
3
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. 61 57
15557460 2004
4
Snowflake vitreoretinal degeneration: follow-up of the original family. 57 61
14644728 2003
5
Snowflake degeneration in hereditary vitreoretinal degeneration. 57
4812083 1974
6
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease. 61
33219695 2021
7
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. 61
31647904 2019
8
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 61
30846767 2019
9
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 61
25921210 2015
10
Focus on Kir7.1: physiology and channelopathy. 61
25558901 2014
11
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. 61
23977131 2013
12
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
13
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 61
12686304 2003
14
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. 61
6626003 1983
15
Hereditary snowflake vitreoretinal degeneration. 61
7171777 1982

Variations for Vitreoretinal Degeneration, Snowflake Type

ClinVar genetic disease variations for Vitreoretinal Degeneration, Snowflake Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GIGYF2 NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) SNV Pathogenic 6585 rs121918542 2:233633500-233633500 2:232768790-232768790

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

73
# 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

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

# Name GO ID Score Top Affiliating Genes
1 actin filament bundle GO:0032432 8.62 PLS1 LCP1

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

# Name GO ID Score Top Affiliating Genes
1 defense response GO:0006952 9.54 DEFB130A DEFB107B DEFB107A
2 potassium ion transmembrane transport GO:0071805 9.5 KCNJ15 KCNJ13 KCNJ1
3 regulation of ion transmembrane transport GO:0034765 9.46 KCNJ15 KCNJ13 KCNJ12 KCNJ1
4 actin filament bundle assembly GO:0051017 9.4 PLS1 LCP1
5 actin filament network formation GO:0051639 9.26 PLS1 LCP1
6 potassium ion transport GO:0006813 9.26 KCNJ15 KCNJ13 KCNJ12 KCNJ1
7 potassium ion import across plasma membrane GO:1990573 8.92 KCNJ15 KCNJ13 KCNJ12 KCNJ1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 KCNJ15 KCNJ13 KCNJ12 KCNJ1
2 inward rectifier potassium channel activity GO:0005242 8.92 KCNJ15 KCNJ13 KCNJ12 KCNJ1

Sources for Vitreoretinal Degeneration, Snowflake Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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