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

Mucopolysaccharidosis IH (Hurler syndrome)

OMIM:607014
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolIDUA
Reference transcriptNM_000203.3
DNA Changec.1598C>G
A.A. Changep.Pro533Arg
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceAlif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B.Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
Ann Hum Genet. 1999 Jan;63(Pt 1):9-16.