Phenotypes associated with the disease familial hypocalciuric hypercalcemia 1 (OMIM:145980):
- Hypermagnesemia (HP:0002918): The concentration of magnesium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:7673400)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: IEA. (OMIM:145980)
- Hypercalciuria (HP:0002150). Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:145980)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:7673400)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:7673400)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: IEA. (OMIM:145980)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: IEA. (OMIM:145980)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: PCS. Frequency: 1/1. (PMID:7673400)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: IEA. (OMIM:145980)