KEGG   DISEASE: Infantile cerebellar-retinal degeneration
Entry
H02113                      Disease                                

Name
Infantile cerebellar-retinal degeneration
Description
Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense mutations in a TCA enzyme, mitochondrial aconitase (ACO2), catalysing interconversion of citrate into isocitrate, have been reported in a sibship with infantile-onset encephalopathy, optic nerve involvement, and cerebellar atrophy.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H02113  Infantile cerebellar-retinal degeneration
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02113  Infantile cerebellar-retinal degeneration
Pathway
hsa00020 Citrate cycle   
hsa00630 Glyoxylate and dicarboxylate metabolism   
Gene
ACO2 [HSA:50] [KO:K01681]
Other DBs
ICD-11: 5C53.1
ICD-10: E88.8
OMIM: 614559
Reference
  Authors
Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O
  Title
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
  Journal
Am J Hum Genet 90:518-23 (2012)
DOI:10.1016/j.ajhg.2012.01.009
Reference
  Authors
Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C
  Title
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
  Journal
J Med Genet 51:834-8 (2014)
DOI:10.1136/jmedgenet-2014-102532
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