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Details for phenotype: Familial benign hypocalciuric hypercalcemia
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EndoNet ID: ENP00495
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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
regulation of calcium-mediated signaling
OMIM
145980
Medline Plus
000365
MeSH term
D006934
Disease database
1326
Phenotype triggers
CaSR
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in
parathyroid_gland
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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