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Details for phenotype: Familial benign hypocalciuric hypercalcemia

EndoNet ID: ENP00495

Name

Familial benign hypocalciuric hypercalcemia

General information

This phenotype is pathologic
  • Familial benign hypocalciuric hypercalcemia (FBHH), also referred to extensively in the literature as familial hypocalciuric hypercalcemia (FHH), is a rare disorder that can also present with hypercalcemia and mildly elevated or inappropriately normal PTH levels. [1]

Links to other resources

GO
OMIM 145980
Medline Plus 000365
MeSH term D006934
Disease database 1326

Phenotype triggers

  • CaSR
    in parathyroid_gland
    • FBHH/FHH, transmitted in an autosomal dominant fashion, is due in most, but not all, cases to a heterozygous mutation in the calcium-sensing receptor (CaSR) gene that is the main regulator of parathyroid cell responsivity to calcium. [1]
Reference