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GENATLAS PHENOTYPE |
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) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| 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
| |
Remark(s) |