Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 14-04-2010
Symbol PPHP
Location 20q13.32
Name pseudopseudohypoparathyroidism, Albright osteodystrophy phenotype
Corresponding gene GNAS
Main clinical features normal hormonal responsiveness and low Gs alpha level
Genetic determination autosomal dominant
Function/system disorder osteo-articular
Type malformation
Gene product
Name Gs alpha
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   under-expression maternally inherited activating mutation
Remark(s)