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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02026 | Familial hypocalciuric hypercalcemia | ... HHC1 is due 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] |
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| H03106 | Autosomal dominant hypocalcemia | ... ectopic calcifications affecting the kidneys and/or basal ganglia. HYPOC2 is caused by germline gain-of-function mutations in GNA11. It has been reported that patients with HYPOC2 do not have hypercalciuria. | Inherited metabolic disorder |
(HYPOC1) CASR [HSA:846] [KO:K04612] (HYPOC2) GNA11 [HSA:2767] [KO:K04635] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |