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

Dihydropyrimidinase deficiency

OMIM:222748
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolDPYS
Reference transcriptNM_001385.2
DNA Changec.1078T>C
A.A. Changep.Trp360Arg
Exon/Intronexon 6
Mutation Typesubstitution
Referencevan Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.
Mol Genet Metab. 2007 Jun;91(2):157-64.
Gene SymbolDPYS
Reference transcriptNM_001385.2
DNA Changec.1235G>T
A.A. Changep.Arg412Met
Exon/Intronexon 7
Mutation Typesubstitution
Referencevan Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.
Mol Genet Metab. 2007 Jun;91(2):157-64.