Genetic defects associated with familial and sporadic hyperparathyroidism.

[familial hypocalciuric hypercalcemia]

Primary hyperparathyroidism (PHPT ) occurs sporadically , but occasionally it may be a feature of a familial condition , such as multiple endocrine neoplasia type 1 (MEN 1 ), MEN 2 A , or the HPT-jaw tumor syndrome (HPT-JT ), and familial hypocalciuric hypercalcemia /neonatal severe hyperparathyroidism (FHH /NSHPT ). PHPT may also occur as familial isolated hyperparathyroidism (FIHP ), and has been observed as a consequence of mutations in the CDKN 1 B gene (MEN 4 ). Tumorigenesis in these conditions may be the result of protooncogene activation (e .g . RET in MEN 2 ) or two -hit losses of a tumor suppressor (e .g . MEN 1 , HPT-JT ). In patients with MEN 1 , HPT-JT or FHH /NSHPT , the hyperparathyroidism manifests at a younger age and affects both sexes equally . In MEN 1 , mutations of the MEN 1 gene also cause enteropancreatic and anterior pituitary tumors . In MEN 2 , activating mutations in the RET protooncogene also cause medullary thyroid carcinoma and pheochromocytoma . In HPT-JT , mutations of CDC 73 /HRPT 2 are associated with parathyroid carcinoma , but tumors of the kidneys and uterus are additional features . In some FIHP families , a CASR mutation may be identified . In parathyroid carcinoma , even if sporadic , molecular diagnostics for CDC 73 /HRPT 2 should be considered , as it should be for younger patients . Further exploration of these hereditary syndromes may shed light on the molecular mechanisms giving rise to nonhereditary PHPT .

Diseases
Validation

Diseases presenting "tumor syndrome" symptom

cowden syndrome

familial hypocalciuric hypercalcemia

lymphangioleiomyomatosis

pendred syndrome

proteus syndrome

von hippel-lindau disease

werner syndrome

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