KEGG   DISEASE: Cystic leukoencephalopathy without megalencephalyHelp
H00878                      Disease                                

Cystic leukoencephalopathy without megalencephaly
Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to this disorder.
Nervous system disease; Congenital disorder of metabolism
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00878  Cystic leukoencephalopathy without megalencephaly
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00878  Cystic leukoencephalopathy without megalencephaly
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00878  Cystic leukoencephalopathy without megalencephaly
BRITE hierarchy
RNASET2 [HSA:8635] [KO:K01166]
Other DBs
ICD-11: 5C55.2
ICD-10: E75.2
MeSH: C567845
OMIM: 612951
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschutter A, Kratzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Ruschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nurnberg P, Gartner J
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Nat Genet 41:773-5 (2009)

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