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Table 1. Major Clinical Features of MEN1, FIHP, HPT-JT, and FHH

Condition Gene(s) Major Clinical Features  
CaSR = calcium-sensing receptor gene; FHH = familial hypocalciuric hypercalcemia; FIHP = familial isolated hyperparathyroidism; HPT-JT = hyperparathyroidism–jaw tumor syndrome; HRPT2 = hyperparathyroidism 2 gene; MEN1 = multiple endocrine neoplasia type 1 (gene is italicized); NETs = neuroendocrine tumors; PHPT = primary hyperparathyroidism.
MEN1MEN1 PHPT, pituitary adenomas, pancreatic NETs [1]
FIHPMEN1, HRPT2PHPT [50-54]
HPT-JTHRPT2 PHPT; osteomas of maxilla and mandible; renal cysts or hamartomas; and rarely, Wilms tumor and parathyroid carcinoma [47-49]
FHHCaSR Hyperparathyroidism (not primary) [55,56]

References

  1. Chandrasekharappa SC, Teh BT: Clinical and molecular aspects of multiple endocrine neoplasia type 1. Front Horm Res 28: 50-80, 2001.  [PUBMED Abstract]

  2. Teh BT, Farnebo F, Kristoffersson U, et al.: Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 81 (12): 4204-11, 1996.  [PUBMED Abstract]

  3. Marx SJ: Multiple endocrine neoplasia type 1. In: Vogelstein B, Kinzler KW, eds.: The Genetic Basis of Human Cancer. New York, NY: McGraw-Hill, 1998, pp 489-506. 

  4. Warner J, Epstein M, Sweet A, et al.: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 41 (3): 155-60, 2004.  [PUBMED Abstract]

  5. Cetani F, Pardi E, Ambrogini E, et al.: Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf) 64 (2): 146-52, 2006.  [PUBMED Abstract]

  6. Raue F, Frank-Raue K: Primary hyperparathyroidism--what the nephrologist should know--an update. Nephrol Dial Transplant 22 (3): 696-9, 2007.  [PUBMED Abstract]

  7. Christensen SE, Nissen PH, Vestergaard P, et al.: Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes 18 (6): 359-70, 2011.  [PUBMED Abstract]