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References OMIM Gene GeneReviews HGMD HGNC
last update : 2/09/2006
Symbol NSHPT
Location 3q21.1
Name neonatal severe hyperparathyroidism
Corresponding gene CASR
Other symbol(s) NSPH, PCAR1
Main clinical features multiple fractures, irregularities in the metaphysis and generalized bony demineralization
Genetic determination autosomal recessive
Function/system disorder endocrinology
Type disease
Gene product
Name extracellular calcium sensing receptor (CASR)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function N583X in the N-terminal portion of the extracellular domain, not dimerized in the ER, an defective in trafficking to the plasma membrane