Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02026 | Familial hypocalciuric hypercalcemia | ... to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis. | Inherited metabolic disorder |
(HHC1) CASR [HSA:846] [KO:K04612] (HHC2) GNA11 [HSA:2767] [KO:K04635] (HHC3) AP2S1 [HSA:1175] [KO:K11827] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |