KEGG   DISEASE: Newfoundland rod-cone dystrophy
Entry
H01009                      Disease                                
Name
Newfoundland rod-cone dystrophy
Description
Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD.
Category
Nervous system disease
Brite
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
     H01009  Newfoundland rod-cone dystrophy
Gene
RLBP1 [HSA:6017] [KO:K19625]
Other DBs
ICD-11: 9B70
MeSH: C564391
OMIM: 607476
Reference
PMID:11868161
  Authors
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
  Title
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
  Journal
Am J Hum Genet 70:955-64 (2002)
DOI:10.1086/339688
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