KEGG   DISEASE: 橋小脳低形成
エントリ  
H00897                                                             

名称    
橋小脳低形成
概要    
Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene.
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  神経系の先天奇形
   H00897  橋小脳低形成
ICD-11 による疾患分類 [BR:jp08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00897  橋小脳低形成
関連パスウェイ
hsa03018  RNA degradation
hsa00970  Aminoacyl-tRNA biosynthesis
hsa03015  mRNA surveillance pathway
病因遺伝子 
(PCH1) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
リンク   
ICD-11: LD20.01
ICD-10: Q04.3
MeSH: C580383
OMIM: 607596 614678 616081 277470 225753 612389 612390 611523 608027 613811 615851 617026 614969 614961 615809 615803
文献    
  著者
Namavar Y, Barth PG, Poll-The BT, Baas F
  タイトル
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
  雑誌
Orphanet J Rare Dis 6:50 (2011)
DOI:10.1186/1750-1172-6-50
文献    
  著者
Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM
  タイトル
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
  雑誌
J Neurol 260:1866-70 (2013)
DOI:10.1007/s00415-013-6896-0
文献    
  著者
Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R
  タイトル
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
  雑誌
Nat Commun 5:4287 (2014)
DOI:10.1038/ncomms5287
文献    
  著者
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F
  タイトル
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
  雑誌
Eur J Hum Genet 19:724-6 (2011)
DOI:10.1038/ejhg.2011.8
文献    
  著者
Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS
  タイトル
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
  雑誌
Am J Hum Genet 87:538-44 (2010)
DOI:10.1016/j.ajhg.2010.09.007
文献    
  著者
Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS
  タイトル
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
  雑誌
J Med Genet 51:303-8 (2014)
DOI:10.1136/jmedgenet-2013-101823
文献    
  著者
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG
  タイトル
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
  雑誌
Am J Hum Genet 99:228-35 (2016)
DOI:10.1016/j.ajhg.2016.05.023
文献    
  著者
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
  タイトル
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
  雑誌
Neurology 84:1745-50 (2015)
DOI:10.1212/WNL.0000000000001523
文献    
  著者
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
  タイトル
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
  雑誌
Nat Genet 49:457-464 (2017)
DOI:10.1038/ng.3762
文献    
  著者
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA
  タイトル
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
  雑誌
Nat Genet 44:1260-4 (2012)
DOI:10.1038/ng.2425
文献    
  著者
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG
  タイトル
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
  雑誌
Cell 154:505-17 (2013)
DOI:10.1016/j.cell.2013.07.005
文献    
  著者
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR
  タイトル
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
  雑誌
Cell 157:636-50 (2014)
DOI:10.1016/j.cell.2014.02.058

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