KEGG   DISEASE: Snowflake vitreoretinal degeneration
Entry
H02077                      Disease                                
Name
Snowflake vitreoretinal degeneration
  Supergrp
Vitreoretinal degeneration [DS:H00805]
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H02077  Snowflake vitreoretinal degeneration
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H02077  Snowflake vitreoretinal degeneration
Gene
KCNJ13 [HSA:3769] [KO:K05006]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: C536677
OMIM: 193230
Reference
  Authors
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
  Title
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
  Journal
Am J Hum Genet 82:174-80 (2008)
DOI:10.1016/j.ajhg.2007.08.002
Reference
  Authors
Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
  Title
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
  Journal
Invest Ophthalmol Vis Sci 45:4498-503 (2004)
DOI:10.1167/iovs.04-0722
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