| H00269 | |
| H番号 | H00269 |
| 名称 | 小頭症 |
| 概要 | Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06512 Chromosome cohesion and segregation nt06515 Regulation of kinetochore-microtubule interactions nt06523(H00269) Epigenetic regulation by Polycomb complexes |
| 病因遺伝子 | (MCPH1) MCPH1 [HSA:79648] [KO:K19403] (MCPH2) WDR62 [HSA:284403] [KO:K21762] (MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542] (MCPH4) KNL1 [HSA:57082] [KO:K11542] (MCPH5) ASPM [HSA:259266] [KO:K16743] (MCPH6) CENPJ [HSA:55835] [KO:K11502] (MCPH7) STIL [HSA:6491] [KO:K16724] (MCPH8) CEP135 [HSA:9662] [KO:K16461] (MCPH9) CEP152 [HSA:22995] [KO:K16728] (MCPH10) ZNF335 [HSA:63925] [KO:K24371] (MCPH11) PHC1 [HSA:1911] [KO:K11456] (MCPH12) CDK6 [HSA:1021] [KO:K02091] (MCPH13) CENPE [HSA:1062] [KO:K11498] (MCPH14) SASS6 [HSA:163786] [KO:K16487] (MCPH15) MFSD2A [HSA:84879] [KO:K23894] (MCPH16) ANKLE2 [HSA:23141] [KO:K21412] (MCPH17) CIT [HSA:11113] [KO:K16308] (MCPH18) WDFY3 [HSA:23001] [KO:K22262] (MCPH19) COPB2 [HSA:9276] [KO:K17302] (MCPH20) KIF14 [HSA:9928] [KO:K17915] (MCPH21) NCAPD2 [HSA:9918] [KO:K06677] (MCPH22) NCAPD3 [HSA:23310] [KO:K11491] (MCPH23) NCAPH [HSA:23397] [KO:K06676] (MCPH24) NUP37 [HSA:79023] [KO:K14302] (MCPH25) TRAPPC14 [HSA:55262] [KO:K24261] (MCPH26) LMNB1 [HSA:4001] [KO:K07611] (MCPH27) LMNB2 [HSA:84823] [KO:K07611] (MCPH28) RRP7A [HSA:27341] [KO:K14545] (MCPH29) PDCD6IP [HSA:10015] [KO:K12200] (MCPH30) BUB1 [HSA:699] [KO:K02178] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA05.0 ICD-10: Q02 MeSH: D008831 OMIM: 607117 604317 604804 604321 608716 608393 612703 614673 614852 615095 615414 616080 616051 616402 616486 616681 617090 617520 251230 617800 617914 617983 617984 617985 618179 618351 619179 619180 619453 620047 620183 |
| 文献 | PMID:17980308 著者 Abuelo D タイトル Microcephaly syndromes. 雑誌 Semin Pediatr Neurol 14:118-27 (2007) DOI:10.1016/j.spen.2007.07.003 PMID:16829198 著者 Cox J, Jackson AP, Bond J, Woods CG タイトル What primary microcephaly can tell us about brain growth. 雑誌 Trends Mol Med 12:358-66 (2006) DOI:10.1016/j.molmed.2006.06.006 PMID:15806441 著者 Woods CG, Bond J, Enard W タイトル Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 雑誌 Am J Hum Genet 76:717-28 (2005) DOI:10.1086/429930 PMID:12046007 (MCPH1) 著者 Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG タイトル Identification of microcephalin, a protein implicated in determining the size of the human brain. 雑誌 Am J Hum Genet 71:136-42 (2002) DOI:10.1086/341283 PMID:21496009 (MCPH2) 著者 Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A タイトル Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 雑誌 Clin Genet 80:532-40 (2011) DOI:10.1111/j.1399-0004.2011.01686.x PMID:15793586 (MCPH3 MCPH6) 著者 Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG タイトル A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 雑誌 Nat Genet 37:353-5 (2005) DOI:10.1038/ng1539 PMID:22983954 (MCPH4) 著者 Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M タイトル Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 雑誌 Hum Mol Genet 21:5306-17 (2012) DOI:10.1093/hmg/dds386 PMID:12355089 (MCPH5) 著者 Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG タイトル ASPM is a major determinant of cerebral cortical size. 雑誌 Nat Genet 32:316-20 (2002) DOI:10.1038/ng995 PMID:19215732 (MCPH7) 著者 Kumar A, Girimaji SC, Duvvari MR, Blanton SH タイトル Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. 雑誌 Am J Hum Genet 84:286-90 (2009) DOI:10.1016/j.ajhg.2009.01.017 PMID:22521416 (MCPH8) 著者 Hussain MS, Baig SM, Neumann S, Nurnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmuller J, Frommolt P, Thiele H, Noegel AA, Nurnberg P タイトル A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 雑誌 Am J Hum Genet 90:871-8 (2012) DOI:10.1016/j.ajhg.2012.03.016 PMID:20598275 (MCPH9) 著者 Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME タイトル Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 雑誌 Am J Hum Genet 87:40-51 (2010) DOI:10.1016/j.ajhg.2010.06.003 PMID:23178126 (MCPH10) 著者 Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA タイトル Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 雑誌 Cell 151:1097-112 (2012) DOI:10.1016/j.cell.2012.10.043 PMID:23418308 (MCPH11) 著者 Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C タイトル Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. 雑誌 Hum Mol Genet 22:2200-13 (2013) DOI:10.1093/hmg/ddt072 PMID:23918663 (MCPH12) 著者 Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nurnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmuller J, Frommolt P, Thiele H, Hohne W, Yigit G, Wollnik B, Neubauer BA, Nurnberg P, Noegel AA タイトル CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 雑誌 Hum Mol Genet 22:5199-214 (2013) DOI:10.1093/hmg/ddt374 PMID:24748105 (MCPH13) 著者 Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M タイトル Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 雑誌 Hum Genet 133:1023-39 (2014) DOI:10.1007/s00439-014-1443-3 PMID:24951542 (MCPH14) 著者 Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmuller J, Steinmetz MO, Enzinger C, Thiele H, Hohne W, Nurnberg G, Baig SM, Ansar M, Nurnberg P, Vincent JB, Speicher MR, Gonczy P, Windpassinger C タイトル A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 雑誌 Hum Mol Genet 23:5940-9 (2014) DOI:10.1093/hmg/ddu318 PMID:26005865 (MCPH15) 著者 Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH タイトル A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 雑誌 Nat Genet 47:814-7 (2015) DOI:10.1038/ng.3313 PMID:25259927 (MCPH16) 著者 Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ タイトル A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 雑誌 Cell 159:200-14 (2014) DOI:10.1016/j.cell.2014.09.002 PMID:27519304 (MCPH17) 著者 Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI タイトル CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 雑誌 Hum Genet 135:1199-207 (2016) DOI:10.1007/s00439-016-1724-0 PMID:27008544 (MCPH18) 著者 Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS タイトル ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. 雑誌 PLoS Genet 12:e1005919 (2016) DOI:10.1371/journal.pgen.1005919 PMID:29036432 (MCPH19) 著者 DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW タイトル Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 雑誌 Hum Mol Genet 26:4836-4848 (2017) DOI:10.1093/hmg/ddx362 PMID:28892560 (MCPH20) 著者 Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Hohne W, Noegel AA, Al-Owain M, Hortnagel K, Stobe P, Baig SM, Nurnberg P, Alkuraya FS, Hahn A, Hussain MS タイトル Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 雑誌 Ann Neurol 82:562-577 (2017) DOI:10.1002/ana.25044 PMID:27737959 (MCPH21 MCPH22 MCPH23) 著者 Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP タイトル Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. 雑誌 Genes Dev 30:2158-2172 (2016) DOI:10.1101/gad.286351.116 PMID:30179222 (MCPH24) 著者 Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F タイトル Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 雑誌 J Clin Invest 128:4313-4328 (2018) DOI:10.1172/JCI98688 PMID:30715179 (MCPH25) 著者 Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY タイトル Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. 雑誌 Brain 142:574-585 (2019) DOI:10.1093/brain/awz004 PMID:32910914 (MCPH26) 著者 Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H タイトル De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. 雑誌 Am J Hum Genet 107:753-762 (2020) DOI:10.1016/j.ajhg.2020.08.015 PMID:33033404 (MCPH27) 著者 Parry DA, Martin CA, Greene P, Marsh JA, Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M, Jackson AP タイトル Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. 雑誌 Genet Med 23:408-414 (2021) DOI:10.1038/s41436-020-00980-3 PMID:33199730 (MCPH28) 著者 Farooq M, Lindbaek L, Krogh N, Doganli C, Keller C, Monnich M, Goncalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Mollgard K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA タイトル RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. 雑誌 Nat Commun 11:5816 (2020) DOI:10.1038/s41467-020-19658-0 PMID:32286682 (MCPH29) 著者 Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W タイトル PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. 雑誌 Clin Genet 98:80-85 (2020) DOI:10.1111/cge.13756 PMID:35044816 (MCPH30) 著者 Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J タイトル Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. 雑誌 Sci Adv 8:eabk0114 (2022) DOI:10.1126/sciadv.abk0114 |