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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00246 |
Primary hyperparathyroidism Familial hyperparathyroidism |
... 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 ... | Endocrine and metabolic disease |
(HRPT1/2) CDC73 [HSA:79577] [KO:K15175] (NSHPT) CASR [HSA:846] [KO:K04612] (HRPT4) GCM2 [HSA:9247] [KO:K21598] MEN1 [HSA:4221] [KO:K14970] |
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| H01558 | Parathyroid carcinoma | ... <1-5% of all patients with primary hyperparathyroidism. PC is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression. Negative parafibromin ... | Cancer |
CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175] CASR [HSA:846] [KO:K04612] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |