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Definition (1) | WHAT: Hyperparathyroidism. Hyperparathyroidism: a condition due to an increase in the secretion of the parathyroids, causing generalized osteitis fibrosa cystica, elevated serum calcium, decreased serum phosphorus, and increased excretion of both calcium and phosphorus. WHY: Several rheumatological disorders are associated with hyperpara- thyroidism. First, hyperuricemia and gouty arthritis (which may mimic hyperparathyroidism with renal stone formation and colic) have an increased incidence in patients with hyperparathyroidism. Second, patients with primary hyperparathyroidism show an increased incidence of chondrocalcinosis with episodes of calcium pyrophosphate crystal induced synovitis. Approximately 25% of patients with hyperparathyroidism will show radiographic evidence of calcification of articular cartilage and joint capsules. Finally, there can be a synovial and cartilaginous lesion ("osteogenic synovitis") in patients with hyperparathyroidism which may mimic other primary rheumatic diseases such as rheumatoid arthritis. In osteogenic synovitis there is softening and collapse of subchondral bone. Eventually the cartilage overlying this area erodes and is replaced by an irregular fibrocartilage. Eventually the articular surface of the joint is destroyed and secondary degenerative arthritis may develop. REFS: 1) Zvaifler, NJ; Reefe, WE and Black, RL: Articular manifestations in primary hyperparathyroidism. Arthritis Rheum 5:237, 1962. 2) Scott, JT; Dixon, ASJ and Bywaters, EGL: Association of hyperuricemia and gout with hyperparathyroidism. Br Med J 1:1070, 1964. 3) Bywaters, EGL and Scott, JT : Joint lesions of hyperparathyroidism. Ann Rheum Dis 22:171-87, 1963. |
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Genes (15)
Species: human : 15 | |
Human | CDC73 | 79577 | cell division cycle 73 | Title:Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.|Association:Not Found|Conclusion:These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP. | Human | KL | 9365 | klotho | INFERRED, Score=800, UMLKSK CUI: C0020502 | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | TT variants of the TagI vitamin D receptor gene influence the development of hyperparathyroidism in hemodialysis patients marked decreases in vitamin D receptor and calcium-sensing receptor expression could be responsible for the high proliferation of parathyroid cells and the pathological progression of hyperparathyroidism in hyperparathyroidism after renal allograft, VDR and calcium sensing receptor index in diffuse hyperplasia was higher than uremic diffuse hyperplasia but low in nodular hyperplasia | Human | RET | 5979 | ret proto-oncogene | | Human | PTH | 5741 | parathyroid hormone | Title:Parathyroid hormone gene polymorphism and secondary hyperparathyroidism in hemodialysis patients.|Association:Y|Conclusion:We conclude that PTH genotypes may influence secondary HPT in HD patients. | Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | INFERRED, Score=800, UMLKSK CUI: C0020502 | Human | MEN1 | 4221 | multiple endocrine neoplasia I | Title:Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism|Association:Y|Conclusion:We report that the MM genotype was overrepresented in pHPT patients compared with control participants, suggesting a novel marker for pHPT. Furthermore, the MM genotype was associated with higher BMD at the femoral neck and in the total body in the screening-recruited control participants. Title:Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.|Association:Y|Conclusion:These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP. Title:Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.|Association:Not Found|Conclusion:In conclusion, our data demonstrate the presence of somatic alterations of the MEN1 tumor suppressor gene in about one fifth of benign sporadic parathyroid tumors. The absence of a genotype-phenotype correlation, however, suggests the involvement of other genetic/epigenetic factors for the full expression of the disease. Routine germline MEN1 mutation testing of all cases of "classical" MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services | Human | KCNQ1 | 3784 | potassium voltage-gated channel, KQT-like subfamily, member 1 | INFERRED, Score=800, UMLKSK CUI: C0020502 | Human | IL6R | 3570 | interleukin 6 receptor | combined measurements of serum interleukin-6 soluble receptor and interleukin-6 may be helpful in identifying patients with untreated hyperparathyroidism who are more likely to experience bone loss at the total femur | Human | GNAS | 2778 | GNAS complex locus | | Human | CYP27B1 | 1594 | cytochrome P450, family 27, subfamily B, polypeptide 1 | INFERRED, Score=800, UMLKSK CUI: C0020502 | Human | CASR | 846 | calcium-sensing receptor | Title:Calcium-sensing receptor gene polymorphisms in primary hyperparathyroidism.|Association:Not Found|Conclusion:We found no significant difference in several clinical and biochemical parameters between PHPT patients carrying or not the 986S allele. Finally, no relationship was observed between the 986S genotype and total and ionized serum calcium in control subjects. The A986S CaR polymorphism is the most common in Italian PHPT patients and the allotype AS does not appear to play a relevant role in the pathogenesis of PHPT and its severity. The A986S polymorphism does not correlate with serum calcium levels in normal Italian subjects. marked decreases in vitamin D receptor and calcium-sensing receptor expression could be responsible for the high proliferation of parathyroid cells and the pathological progression of hyperparathyroidism Title:Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism.|Association:Y|Conclusion:The present study is the first to show that CaR polymorphisms of G990R and intron 5 were closely associated with the magnitude of PTH secretion and/or PTH degradation as well as the clinical severity in pHPT patients. Title:Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.|Association:Y|Conclusion:These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP. in hyperparathyroidism after renal allograft, VDR and CSR index in diffuse hyperplasia was higher than in uremic diffuse hyperplasia but lot in nodular hyperplasia | Human | CCND1 | 595 | cyclin D1 | 11q23 deletion along with relatively strong CCND1 expression was common in uremic hyperparathyroidism | Human | ADM | 133 | adrenomedullin | INFERRED, Score=800, UMLKSK CUI: C0020502 | Human | ACP5 | 54 | acid phosphatase 5, tartrate resistant | INFERRED, Score=800, UMLKSK CUI: C0020502 |
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