KEGG   DISEASE: Complex cortical dysplasia with other brain malformations
H01881                      Disease                                

Complex cortical dysplasia with other brain malformations
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes has been reported.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H01881  Complex cortical dysplasia with other brain malformations
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
     H01881  Complex cortical dysplasia with other brain malformations
(CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
(CDCBM2) KIF5C [HSA:3800] [KO:K10396]
(CDCBM3) KIF2A [HSA:3796] [KO:K10393]
(CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
(CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
(CDCBM6) TUBB [HSA:203068] [KO:K07375]
(CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
(CDCBM8) TUBA8 [HSA:51807] [KO:K07374]
(CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
Other DBs
ICD-11: LA05.51
ICD-10: Q04.8
MeSH: D054220
OMIM: 614039 615282 615411 615412 615763 615771 610031 613180 618174
Fallet-Bianco C, Laquerriere A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonniere M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Acta Neuropathol Commun 2:69 (2014)
Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
J Med Genet 51:487-94 (2014)
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J
Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Hum Mol Genet 19:4462-73 (2010)
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Am J Hum Genet 85:737-44 (2009)
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG
Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet 50:1093-1101 (2018)

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