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GTR Home > Conditions/Phenotypes > Familial hypocalciuric hypercalcemia 2

Familial hypocalciuric hypercalcemia 2

Synonyms
FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; Familial benign hypercalcemia, type 2; Hypocalciuric hypercalcemia, familial, type II; Hypocalciuric hypercalcemia, type II
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FBH, FBH2, FHH2, GNA-11, HG1K, HHC2, HYPOC2, GNA11
    Summary: G protein subunit alpha 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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