KEGG   DISEASE: Smith-Kingsmore syndromeHelp
H01928                      Disease                                

Smith-Kingsmore syndrome;
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01928  Smith-Kingsmore syndrome
BRITE hierarchy
hsa04150 mTOR signaling pathway   
MTOR [HSA:2475] [KO:K07203]
Other DBs
OMIM: 616638
Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares M, Del Pozo A, Ibanez K, Silla JC, Barroso E, Ruiz Perez VL, Martinez-Glez V, Lapunzina P
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Clin Genet 93:762-775 (2018)
Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Am J Med Genet A 173:264-267 (2017)
Moller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmuller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurol Genet 2:e118 (2016)
Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Am J Med Genet A 167:1659-67 (2015)

» Japanese version

DBGET integrated database retrieval system