KEGG   DISEASE: Posterior column ataxia with retinitis pigmentosa
Entry
H01036                      Disease                                
Name
Posterior column ataxia with retinitis pigmentosa
Description
Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H01036  Posterior column ataxia with retinitis pigmentosa
Gene
FLVCR1 [HSA:28982] [KO:K08220]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.1
MeSH: C536343
OMIM: 609033
Reference
  Authors
Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
  Title
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
  Journal
Neurogenetics 12:117-21 (2011)
DOI:10.1007/s10048-010-0271-4
LinkDB

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