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

Growth hormone deficiency, isolated partial

OMIM:615925
Mode of inheritance:Multiple
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolGHSR
Reference transcriptNM_198407.2
DNA Changec.611C>A
A.A. Changep.Ala204Glu
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceFritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84.
Gene SymbolGHSR
Reference transcriptNM_198407.2
DNA Changec.1072G>A
A.A. Changep.Ala358Thr
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceFritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84.