| H00269 | |
| H number | H00269 |
| Name | Primary microcephaly |
| Description | Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. |
| Category | Congenital malformation |
| Network | nt06512 Chromosome cohesion and segregation nt06515 Regulation of kinetochore-microtubule interactions nt06523(H00269) Epigenetic regulation by Polycomb complexes |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:17980308 AUTHORS Abuelo D TITLE Microcephaly syndromes. JOURNAL Semin Pediatr Neurol 14:118-27 (2007) DOI:10.1016/j.spen.2007.07.003 PMID:16829198 AUTHORS Cox J, Jackson AP, Bond J, Woods CG TITLE What primary microcephaly can tell us about brain growth. JOURNAL Trends Mol Med 12:358-66 (2006) DOI:10.1016/j.molmed.2006.06.006 PMID:15806441 AUTHORS Woods CG, Bond J, Enard W TITLE Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. JOURNAL Am J Hum Genet 76:717-28 (2005) DOI:10.1086/429930 PMID:12046007 (MCPH1) AUTHORS 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 TITLE Identification of microcephalin, a protein implicated in determining the size of the human brain. JOURNAL Am J Hum Genet 71:136-42 (2002) DOI:10.1086/341283 PMID:21496009 (MCPH2) AUTHORS Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A TITLE Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. JOURNAL Clin Genet 80:532-40 (2011) DOI:10.1111/j.1399-0004.2011.01686.x PMID:15793586 (MCPH3 MCPH6) AUTHORS 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 TITLE A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. JOURNAL Nat Genet 37:353-5 (2005) DOI:10.1038/ng1539 PMID:22983954 (MCPH4) AUTHORS 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 TITLE Kinetochore KMN network gene CASC5 mutated in primary microcephaly. JOURNAL Hum Mol Genet 21:5306-17 (2012) DOI:10.1093/hmg/dds386 PMID:12355089 (MCPH5) AUTHORS Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG TITLE ASPM is a major determinant of cerebral cortical size. JOURNAL Nat Genet 32:316-20 (2002) DOI:10.1038/ng995 PMID:19215732 (MCPH7) AUTHORS Kumar A, Girimaji SC, Duvvari MR, Blanton SH TITLE Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. JOURNAL Am J Hum Genet 84:286-90 (2009) DOI:10.1016/j.ajhg.2009.01.017 PMID:22521416 (MCPH8) AUTHORS 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 TITLE A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. JOURNAL Am J Hum Genet 90:871-8 (2012) DOI:10.1016/j.ajhg.2012.03.016 PMID:20598275 (MCPH9) AUTHORS 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 TITLE Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. JOURNAL Am J Hum Genet 87:40-51 (2010) DOI:10.1016/j.ajhg.2010.06.003 PMID:23178126 (MCPH10) AUTHORS 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 TITLE Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. JOURNAL Cell 151:1097-112 (2012) DOI:10.1016/j.cell.2012.10.043 PMID:23418308 (MCPH11) AUTHORS Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C TITLE Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. JOURNAL Hum Mol Genet 22:2200-13 (2013) DOI:10.1093/hmg/ddt072 PMID:23918663 (MCPH12) AUTHORS 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 TITLE CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. JOURNAL Hum Mol Genet 22:5199-214 (2013) DOI:10.1093/hmg/ddt374 PMID:24748105 (MCPH13) AUTHORS Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M TITLE Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. JOURNAL Hum Genet 133:1023-39 (2014) DOI:10.1007/s00439-014-1443-3 PMID:24951542 (MCPH14) AUTHORS 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 TITLE A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. JOURNAL Hum Mol Genet 23:5940-9 (2014) DOI:10.1093/hmg/ddu318 PMID:26005865 (MCPH15) AUTHORS 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 TITLE A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. JOURNAL Nat Genet 47:814-7 (2015) DOI:10.1038/ng.3313 PMID:25259927 (MCPH16) AUTHORS 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 TITLE A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. JOURNAL Cell 159:200-14 (2014) DOI:10.1016/j.cell.2014.09.002 PMID:27519304 (MCPH17) AUTHORS Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI TITLE CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. JOURNAL Hum Genet 135:1199-207 (2016) DOI:10.1007/s00439-016-1724-0 PMID:27008544 (MCPH18) AUTHORS 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 TITLE ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. JOURNAL PLoS Genet 12:e1005919 (2016) DOI:10.1371/journal.pgen.1005919 PMID:29036432 (MCPH19) AUTHORS 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 TITLE Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. JOURNAL Hum Mol Genet 26:4836-4848 (2017) DOI:10.1093/hmg/ddx362 PMID:28892560 (MCPH20) AUTHORS 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 TITLE Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. JOURNAL Ann Neurol 82:562-577 (2017) DOI:10.1002/ana.25044 PMID:27737959 (MCPH21 MCPH22 MCPH23) AUTHORS 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 TITLE Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. JOURNAL Genes Dev 30:2158-2172 (2016) DOI:10.1101/gad.286351.116 PMID:30179222 (MCPH24) AUTHORS 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 TITLE Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. JOURNAL J Clin Invest 128:4313-4328 (2018) DOI:10.1172/JCI98688 PMID:30715179 (MCPH25) AUTHORS Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY TITLE Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. JOURNAL Brain 142:574-585 (2019) DOI:10.1093/brain/awz004 PMID:32910914 (MCPH26) AUTHORS 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 TITLE De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. JOURNAL Am J Hum Genet 107:753-762 (2020) DOI:10.1016/j.ajhg.2020.08.015 PMID:33033404 (MCPH27) AUTHORS 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 TITLE Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. JOURNAL Genet Med 23:408-414 (2021) DOI:10.1038/s41436-020-00980-3 PMID:33199730 (MCPH28) AUTHORS 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 TITLE RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. JOURNAL Nat Commun 11:5816 (2020) DOI:10.1038/s41467-020-19658-0 PMID:32286682 (MCPH29) AUTHORS Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W TITLE PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. JOURNAL Clin Genet 98:80-85 (2020) DOI:10.1111/cge.13756 PMID:35044816 (MCPH30) AUTHORS 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 TITLE Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. JOURNAL Sci Adv 8:eabk0114 (2022) DOI:10.1126/sciadv.abk0114 |