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

Congenital disorder of glycosylation, Type IIe

OMIM:608779
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCOG7
Reference transcriptNM_153603.3
DNA Changec.169+4A>C
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceMorava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA.A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Eur J Hum Genet. 2007 Jun;15(6):638-45.
Gene SymbolCOG7
Reference transcriptNM_153603.3
DNA Changec.169+4A>C
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceNg BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH.Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Mol Genet Metab. 2007 Jun;91(2):201-4.