Entry |
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Name |
Primary hyperparathyroidism; Familial hyperparathyroidism |
Description |
Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.
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Category |
Endocrine disease; Urinary system disease
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Brite |
Human diseases [BR:br08402]
Endocrine and metabolic diseases
Parathyroid diseases
H00246 Primary hyperparathyroidism
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the parathyroids or parathyroid hormone system
5A51 Hyperparathyroidism
H00246 Primary hyperparathyroidism
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Network |
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Element |
N00290 | Mutation-inactivated MEN1 to transcription |
N00292 | Mutation-inactivated CASR to CasR-PTH signaling pathway |
N00294 | Mutation-activated GCM2 to transcription |
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Gene |
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Drug |
Cinacalcet hydrochloride [DR: D03505]
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Other DBs |
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Reference |
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Authors |
Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C |
Title |
Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. |
Journal |
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Reference |
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Authors |
DeLellis RA, Mazzaglia P, Mangray S |
Title |
Primary hyperparathyroidism: a current perspective. |
Journal |
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Reference |
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Authors |
Wang PF, Tan MH, Zhang C, Morreau H, Teh BT |
Title |
HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. |
Journal |
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Reference |
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Authors |
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK |
Title |
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. |
Journal |
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LinkDB |
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