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, type IA

OMIM:262400
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolGH1
Reference transcriptNM_000515.3
DNA Change6.7-KB DEL
A.A. Change
Exon/Intron
Mutation Typedeletion
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 SymbolGH1
Reference transcriptNM_000515.3
DNA Changec.615C>G
A.A. Changep.Ile205Met
Exon/Intronexon 5
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 SymbolGH1
Reference transcriptNM_000515.3
DNA Changec.75T>G
A.A. Changep.Ser25Arg
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.