Table 1 |.

Inherited forms of PHPT^16,17

Familial syndrome	Clinical manifestations	Gene (protein)	Inheritance
MEN 1	PHPT (95%), anterior pituitary adenomas (30%), pancreatic neuroendocrine tumours (40%); other features can include adrenal adenomas, carcinoid, lipomas, angiofibromas and collagenomas	MEN1 (menin)	Autosomal dominant
MEN 2A	Medullary thyroid cancer (90%), pheochromocytoma (50%), PHPT (20%)	RET (proto-oncogene c-Ret)	Autosomal dominant
MEN 4	PHPT (~80%), anterior pituitary tumours (~40%), pancreatic neuroendocrine tumours; other features can include carcinoid, adrenocorticoid tumours, thyroid tumours, reproductive organ tumours and renal angiomyolipomas	CDKN1B (p27)	Autosomal dominant
FIHP	Isolated PHPT	• MEN1 (menin) • CASR (CASR) • GCM2 (GCM motif protein 2, also known as hGCMb)	Autosomal dominant
Hyperparathyroid-jaw tumour syndrome	PHPT (80%), often parathyroid carcinoma (>15%), jaw tumours (>30%); other features can include renal abnormalities, uterine tumours, pancreatic adenocarcinoma, testicular mixed germ cells and Hürthle cell thyroid adenomas	CDC73 (also known as HRPT2; parafibromin)	Autosomal dominant

FIHP, familial isolated primary hyperparathyroidism; MEN, multiple endocrine neoplasia; PHPT, primary hyperparathyroidism.