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 hormone deficiency, combined, 2

OMIM:262600
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolPROP1
Reference transcriptNM_006261.4
DNA Changec.358C>T
A.A. Changep.Arg120Cys
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceLazar L, Gat-Yablonski G, Kornreich L, Pertzelan A, Phillip M.PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family.
Horm Res. 2003;60(5):227-31.
Gene SymbolPROP1
Reference transcriptNM_006261.4
DNA Changec.217C>T
A.A. Changep.Arg73Cys
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.