Hyperparathyroidism Jaw Tumour syndrome and the CDC73 gene

Familial Isolated Hyperparathyroidism and the CDC73 gene

This is caused by a mutation in the CDC73 gene. It is defined as primary hyperparathyroidism, without other associated syndromic features, occurring in two or more closely related individuals. In some individuals, the parathyroid adenomas can become adenocarcinomas (cancers). The prevalence of familial isolated hyperparathyroidism is unknown. Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. Mutations in the CDC73 gene can cause Hyperparathyroidism-Jaw tumour syndrome. This is a hereditary condition where in addition to hyperparathyroidism, individuals develop ossifying fibromas of the jaw which are usually seen on dental Xrays. About 20% of people with this condition also have multiple kidney cysts and/or kidney angiomas. Exclude MEN1 and mutation in MEN1 gene. he four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream. (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features.[1] The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes.[2] Treatment for FIHP often includes surgical removal of the affected gland(s).[3] https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism/