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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00246 |
Primary hyperparathyroidism Familial hyperparathyroidism |
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 ... | 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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| H01862 | Hypoparathyroidism | ... familial isolated hypoparathyroidism. And a mutation of the parathyroid-specific transcription factor GCMB (GCM2) gene has also been reported in autosomal recessive hypoparathyroidism. Oral calcium and vitamin ... | Endocrine and metabolic disease |
(FIH1) PTH [HSA:5741] [KO:K05261] (FIH2) GCM2 [HSA:9247] [KO:K21598] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |