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  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H00897  橋小脳低形成
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06541  神経細胞の細胞骨格
   H00897  橋小脳低形成
パスウェイ 
hsa03018  RNA degradation
hsa00970  Aminoacyl-tRNA biosynthesis
hsa03040  Spliceosome
ネットワーク
nt06541 Cytoskeleton in neurons
病因遺伝子 
(PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(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]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
リンク   
ICD-11: LD20.01
MeSH: C580383
OMIM: 607596 614678 616081 618065 619303 619304 277470 612389 612390 613811 615851 617026 608027 225753 610204 611523 614969 614961 615809 615803 617695 618266 618606 619301 619302 619527 619909
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    
PMID:19646678 (PCH1A)
  著者
Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E
  タイトル
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
  雑誌
Am J Hum Genet 85:281-9 (2009)
DOI:10.1016/j.ajhg.2009.07.006
文献    
PMID:23564332 (PCH1B)
  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    
PMID:24989451 (PCH1C)
  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    
PMID:29727687 (PCH1D)
  著者
Burns DT, Donkervoort S, Muller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bonnemann CG
  タイトル
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
  雑誌
Am J Hum Genet 102:858-873 (2018)
DOI:10.1016/j.ajhg.2018.03.011
文献    
PMID:26168012 (PCH1E)
  著者
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schule R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Nemeth AH, Carelli V, Huang T, Zuchner S, Dallman JE
  タイトル
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
  雑誌
Nat Genet 47:926-32 (2015)
DOI:10.1038/ng.3354
文献    
PMID:33463720 (PCH1F)
  著者
Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A
  タイトル
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
  雑誌
Clin Genet 99:594-600 (2021)
DOI:10.1111/cge.13928
文献    
PMID:18711368 (PCH2A PCH2B PCH2C PCH4)
  著者
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Hohne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krageloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nurnberg P, Baas F
  タイトル
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
  雑誌
Nat Genet 40:1113-8 (2008)
DOI:10.1038/ng.204
文献    
PMID:20920667 (PCH2D)
  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    
PMID:24577744 (PCH2E)
  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    
PMID:27392077 (PCH2F)
  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    
PMID:25832664 (PCH3)
  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    
PMID:21368912 (PCH5)
  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    
PMID:17847012 (PCH6)
  著者
Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O
  タイトル
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
  雑誌
Am J Hum Genet 81:857-62 (2007)
DOI:10.1086/521227
文献    
PMID:28092684 (PCH7)
  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    
PMID:23023333 (PCH8)
  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    
PMID:23911318 (PCH9)
  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    
PMID:24766809 (PCH10)
  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
文献    
PMID:28823707 (PCH11)
  著者
Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchke P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J
  タイトル
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
  雑誌
Am J Hum Genet 101:428-440 (2017)
DOI:10.1016/j.ajhg.2017.07.010
文献    
PMID:30089828 (PCH12)
  著者
van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F
  タイトル
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
  雑誌
Eur J Hum Genet 26:1752-1758 (2018)
DOI:10.1038/s41431-018-0233-0
文献    
PMID:31207318 (PCH13)
  著者
Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V
  タイトル
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
  雑誌
Eur J Med Genet 62:103704 (2019)
DOI:10.1016/j.ejmg.2019.103704
文献    
PMID:33220177 (PCH14 PCH15)
  著者
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG
  タイトル
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
  雑誌
Neuron 109:241-256.e9 (2021)
DOI:10.1016/j.neuron.2020.10.035
文献    
PMID:33168985 (PCH16)
  著者
Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA
  タイトル
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
  雑誌
Eur J Hum Genet 29:411-421 (2021)
DOI:10.1038/s41431-020-00749-x
文献    
PMID:35390279 (PCH17)
  著者
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerriere A, Pouliet A, Nitschke P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V
  タイトル
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
  雑誌
Am J Hum Genet 109:909-927 (2022)
DOI:10.1016/j.ajhg.2022.03.010

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