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Genetic and Rare Diseases Information Center (GARD)

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Familial hypocalciuric hypercalcemia

Other Names for this Disease
  • Familial benign hypercalcemia
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How is familial hypocalciuric hypercalcemia inherited?

Familial hypocalciuric hypercalcemia (FHH) is inherited in an autosomal dominant manner. Individuals have two copies of each gene (one inherited from each parent). For a condition with autosomal dominant inheritance, one mutated copy of the gene in each cell is sufficient to cause the condition. An affected individual may inherit the mutated copy of the gene from an affected parent, or the mutation may occur for the first time in the affected individual. An individual with FHH has a 50% (1 in 2) risk to pass on the mutation to each of his/her children.

Although most affected individuals have one mutated copy of the gene, it is possible for an affected individual to have a mutation in both copies of the causative gene. These individuals may have very little (or no) function in the mutated gene and have a more severe variation of the disease called neonatal severe primary hyperparathyroidism (NSHPT). Because two mutated copies of the gene cause NSHPT, this condition is inherited in an autosomal recessive manner. This condition may become evident within the first week of life and can be life-threatening; aggressive medical management is usually needed.[1] It is also technically possible for an individual to have two separate mutations in the same copy of the gene responsible for FHH.

For answers to specific questions about an individual's circumstances, a consultation with a genetics professional is recommended. Genetics pprofessionals can answer questions about the diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members.
Last updated: 9/23/2011

  1. David Goltzman. Approach to Hypercalcemia. July 1, 2008; Accessed 9/23/2011.