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

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

OMIM:202010
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCYP11B1
Reference transcriptNM_000497.3
DNA Changec.954+2T>G
A.A. Change
Exon/Intronintron 5
Mutation Typesubstitution
ReferenceChabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.
Horm Res Paediatr. 2010;74(3):182-9.
Gene SymbolCYP11B1
Reference transcriptNM_000497.3
DNA Changec.1337G>T
A.A. Changep.Gly446Val
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceChabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.
Horm Res Paediatr. 2010;74(3):182-9.
Gene SymbolCYP11B1
Reference transcriptNM_000497.3
DNA Changec.776C>A
A.A. Changep.Ala259Asp
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceChabraoui L, Abid F, Menassa R, Gaouzi A, El Hessni A, Morel Y.Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.
Horm Res Paediatr. 2010;74(3):182-9.