SVD
MCID: VTR018
MIFTS: 24

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 75 37 29 13 6 73
Svd 57 53 75
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
Orphanet 59 ORPHA91496
MESH via Orphanet 45 C536677
UMLS via Orphanet 74 C1860405
ICD10 via Orphanet 34 H35.5
MedGen 42 C1860405
KEGG 37 H02077
UMLS 73 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: 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 cataract and vitreoretinopathy

UniProtKB/Swiss-Prot : 75 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 10.0
2 vestibular disease 10.0
3 mouth disease 10.0
4 cervical intraepithelial neoplasia 10.0
5 vitreoretinal degeneration 10.0

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

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

Human phenotypes related to Vitreoretinal Degeneration, Snowflake Type:

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

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:

# 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 Vitreoretinal Degeneration, Snowflake Type

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

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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