KEGG   DISEASE: Primary microcephalyHelp
Entry
H00269                      Disease                                

Name
Primary microcephaly
Description
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00269  Primary microcephaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00269  Primary microcephaly
BRITE hierarchy
Gene
(MCPH1) MCPH1 [HSA:79648] [KO:K19403]
(MCPH2) WDR62 [HSA:284403] [KO:K21762]
(MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542]
(MCPH4) CASC5 [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]
(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]
(MCPH16) ANKLE2 [HSA:23141] [KO:K21412]
(MCPH17) CIT [HSA:11113] [KO:K16308]
(MCPH18) WDFY3 [HSA:23001] [KO:K22262]
(MCPH19) COPB2 [HSA:9276] [KO:K17302]
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
Reference
  Authors
Abuelo D
  Title
Microcephaly syndromes.
  Journal
Semin Pediatr Neurol 14:118-27 (2007)
DOI:10.1016/j.spen.2007.07.003
Reference
  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
Reference
  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
Reference
  Authors
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O
  Title
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
  Journal
Am J Hum Genet 87:667-70 (2010)
DOI:10.1016/j.ajhg.2010.09.016
Reference
  Authors
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Soll D, Walsh CA, Nabbout R
  Title
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
  Journal
Am J Hum Genet 94:547-58 (2014)
DOI:10.1016/j.ajhg.2014.03.003
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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