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

Ovarian hyperstimulation syndrome

OMIM:608115
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the genitourinary system


Mutations

Gene SymbolFSHR
Reference transcriptNM_000145.3
DNA Changec.1346C>T
A.A. Changep.Thr449Ile
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceVasseur C, Rodien P, Beau I, Desroches A, Gerard C, de Poncheville L, Chaplot S, Savagner F, Croue A, Mathieu E, Lahlou N, Descamps P, Misrahi M.A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.
N Engl J Med. 2003 Aug 21;349(8):753-9.