KEGG   DISEASE: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Entry
H02519                      Disease                                
Name
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Description
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02519  Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Gene
MAST1 [HSA:22983] [KO:K08789]
Other DBs
ICD-11: LD20.Y
ICD-10: Q87.8
OMIM: 618273
Reference
PMID:30449657
  Authors
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA
  Title
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
  Journal
Neuron 100:1354-1368.e5 (2018)
DOI:10.1016/j.neuron.2018.10.044
LinkDB

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