| Disease ID | Source | Name | Description |
| 145980 | OMIM | Hypocalciuric hypercalcemia, familial 1 (HHC1) | A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. The disease is caused by variants affecting the gene represented in this entry. |
| 601198 | OMIM | Hypocalcemia, autosomal dominant 1 (HYPOC1) | A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. The disease is caused by variants affecting the gene represented in this entry. |
| 239200 | OMIM | Hyperparathyroidism, neonatal severe (NSHPT) | A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. The disease is caused by variants affecting the gene represented in this entry. |
| 612899 | OMIM | Epilepsy, idiopathic generalized 8 (EIG8) | A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. Disease susceptibility is associated with variants affecting the gene represented in this entry. |