Details of Disease

General Information of Disease (ID: DISXFPWC)

Disease Name Snowflake vitreoretinal degeneration
Synonyms vitreoretinal degeneration, snowflake type; SVD; snowflake degeneration in hereditary vitreoretinal degeneration; snowflake vitreoretinal degeneration
Definition
Snowflake vitreoretinal degeneration (SVD) is characterized 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 localized to a small region on chromosome 2q36.
Disease Hierarchy
DISVPRKD: Vitreoretinal degeneration
DISXFPWC: Snowflake vitreoretinal degeneration
Disease Identifiers
MONDO ID
MONDO_0008663
MESH ID
C536677
UMLS CUI
C1860405
OMIM ID
193230
MedGen ID
395476
HPO ID
HP:0011533
Orphanet ID
91496

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP2J2 TTNE1C7 Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAPN10 OTS9LJW4 Strong Genetic Variation [2]
KCNJ13 OTG1CNND Definitive Autosomal dominant [3]
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References

1 Cerebral Small Vessel Disease is Associated with Genetic Variations in CYP2J.Curr Neurovasc Res. 2017;14(4):378-384. doi: 10.2174/1567202614666171017151128.
2 The SNP43 (G/A) polymorphism in CAPN10 gene confers an increased risk of cognitive impairment in cerebral small vessel disease.J Clin Lab Anal. 2018 Nov;32(9):e22615. doi: 10.1002/jcla.22615. Epub 2018 Jul 16.
3 Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4498-503. doi: 10.1167/iovs.04-0722.