Familial hypocalciuric hypercalcemia

The syndrome known as familial hypocalciuric hypercalcemia (FHH) was first called familial benign hypercalcemia to emphasize the asymptomatic nature of... 

Familial hypocalciuric hypercalcemia is inherited in an antosomal dominant manner with almost 100% penetrance but variable expressivity. The FHH locus was first mapped to 3q21-24 by linkage analysis (47). Most FHH families map to the long arm of chromosome 3, but one clearly maps to another locns, 19pl3.3 (44). 

Clinical and Genetic Features of Familial Hypocalciuric Hypercalcemia (FHH) [OMEM 14598]... 

Aida, K, Koishi, S, Inoue, M, Nakazato, M, Tawata, M and Onaya, T, 1995, Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene, J Clin Endocrinol Metab 80 2594-2598... 

Brown, EM, 2000, Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium, Endocrinol Metab Clin North Am 29 503-522... 

Burski, K, Torjussen, B, Paulsen, AQ, Boman, H and Bollerslev, J, 2002, Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia coincidence or causality , J Clin Endocrinol Metab 87 1015-1016... 

Chou, YH, Brown, EM, Levi, T, Crowe, G, Atkinson, AB, Amqvist, HJ, Toss, G, Fuleihan, GE, Seidman, JG and Seidman, CE, 1992, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families, Nat Genet 1 295-300... 

Cole, DE, Janicic, N, Salisbury, SR and Hendy, GN, 1997, Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium- sensing receptor gene [published erratum appears in Am J Med Genet 1997 Oct 17 72(2) 251-2], Am J Med Genet 71 202-210... 

D Souza-Li, L, Canaff, L, Janicic, N, Cole, DEC and Hendy, GN, 1998, An acceptor splice site mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Submitted... 

D Souza-Li, L, Yang, B, Canaff, L, Bai, M, Hanley, DA, Bastepe, M, Salisbury, SR, Brown, EM, Cole, DE and Hendy, GN, 2002, Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia, J Clin Endocrinol Metab 87 1309-1318... 

Ho, C, Conner, DA, Poliak, MR, Ladd, DJ, Kifor, O, Warren, HB, Brown, EM, Seidman, JG and Seidman, CE, 1995, A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism [see comments], Nat Genet 11 389-394 Hu, J, McLarnon, SJ, Mora, S, Jiang, J, Thomas, C, Jacobson, KA and Spiegel, AM, 2005, A region in the seven-transmembrane domain of the human Ca21 receptor critical for response to Ccp-+, J Biol Chem 280 5113-5120... 

Marx, S, Attie, M, Spiegel, A, Levine, M, Lasker, R and Fox, M, 1982, An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds, N Engl J Med 306 257-284... 

Marx, SJ, Attie, MF, Stock, JL, Spiegel, AM and Levine, MA, 1981b, Maximal urine-concentrating ability familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism, J Clin Endocrinol Metab 52 736-740... 

Poliak, MR, Chou, YH, Marx, SJ, Steinmann, B, Cole, DE, Brandi, ML, Papapoulos, SE, Menko, FH, Hendy, GN, Brown, EM and et al., 1994b, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype, J Clin Invest 93 1108-1112 Posillico, JT, Wortsman, J, Srikanta, S, Eisenbarth, GS, Mallette, LE and Brown, EM, 1986, Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells, J Bone Miner Res 1 475-483... 

Schwarz, P, Larsen, NE, Lonborg Friis, IM, Lillquist, K, Brown, EM and Gammeltoft, S, 2000, Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+ -sensing receptor gene in three Danish families, Scand J Clin Lab Invest 60 221-227 Schwarz, P, Sorensen, HA, McNair, P and Transbol, I, 1993, Cica-clamp technique a method for quantifying parathyroid hormone secretion a sequential citrate and calcium clamp study, Eur J Clin Invest 23 546-553... 

Haven CJ, Howell VM, Ellers PH, et al A mouase model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11 389-394,1995. 

Acute adrenal insufficiency Pheochromocytoma Familial hypocalciuric hypercalcemia Idiopathic hypercalcemia of infancy Vitamin overdose Vitamin D Vitamin A... 

Familial Hypocalciuric Hypercalcemia and Neonatal Seme Hyperparathyroidism... 

Hendy GN, Cole DEC (2013) Ruling in a suspect the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. J Clin Endocrinol Metab 98(12/4666-4669... 

Janicic N, Pausova Z, Cole DEC et al (1995) Insertion of an Alu sequence in the Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neo- natal severe hyperparathyroidism. Am J Hum Genet 56 880-886... 

Paget s disease Familial hypocalciuric hypercalcemia Adolescence Rhabdomyolysis Acromegaly... 

X-linked hypophosphataemic rickets Idiopathic hypercalciuria Familial hypocalciuric hypercalcemia Bartter syndromes Gitelman syndome... 

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