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

Pituitary stalk interruption syndrome

OMIM:
Mode of inheritance:Multiple
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCDON
Reference transcriptNM_001243597.1
DNA Change2764T>C
A.A. ChangeGlu922Ter
Exon/Intron
Mutation Typesubstitution
ReferenceBashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R. A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.
J Clin Endocrinol Metab. 2016 Jan;101(1):12-5. doi: 10.1210/jc.2015-2995. Epub 2015 Nov 3.