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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 5/09/2006
Symbol PTH
Location 11p15.2-p15.1
Name hypoparathyroidism, familial, isolated
Corresponding gene PTH
Main clinical features
  • characterized by hypocalcemia and hyperphosphatemia, because parathyroid hormone secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentration
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name parathyroid hormone (PTH)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function Cys > Arg mutation (C18R) in the hydrophobic core of the signal peptide, mostly frequent mutation
    Remark(s) the signal sequence mutation (C18R) lead to processing-defective PTH that accumulates intracellularly, predominantly within the ER, and this accumulation results in their apoptotic death from chronic ER stress