KEGG   DISEASE: Leukoencephalopathy, brain calcifications, and cysts
Entry
H02473                      Disease                                
Name
Leukoencephalopathy, brain calcifications, and cysts;
Labrune syndrome
Description
Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  8E7Y  Other specified diseases of the nervous system
   H02473  Leukoencephalopathy, brain calcifications, and cysts
Gene
SNORD118 [HSA:727676] [KO:K27110]
Other DBs
ICD-11: 8E7Y
MeSH: C000598644
OMIM: 614561
Reference
  Authors
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Baranano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Ounap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ
  Title
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  Journal
Nat Genet 48:1185-92 (2016)
DOI:10.1038/ng.3661
Reference
  Authors
Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U
  Title
Leukoencephalopathy, cerebral calcifications, and cysts.
  Journal
AJNR Am J Neuroradiol 27:200-3 (2006)
Reference
  Authors
Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S
  Title
Leukoencephalopathy with calcifications and cysts: A case report.
  Journal
Medicine (Baltimore) 96:e7597 (2017)
DOI:10.1097/MD.0000000000007597
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