Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Arterial tortuosity syndrome

OMIM:208050
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the circulatory system


Mutations

Gene SymbolSLC2A10
Reference transcriptNM_030777.3
DNA Changec.961delG
A.A. Changep.Val321CysfsX71
Exon/Intronexon 2
Mutation Typedeletion
ReferenceCoucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nat Genet. 2006 Apr;38(4):452-7.
Gene SymbolSLC2A10
Reference transcriptNM_030777.3
DNA Changec.510G>A
A.A. Changep.Trp170Stop
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceCoucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nat Genet. 2006 Apr;38(4):452-7.