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Functions of Genes Whose Germline Mutation Is Expressed as Uncoupled Secretory Excess in Hormonal Tissues
| Syndrome | Serum Metabolite | Hormone | Mutated Gene by Likely Function |
||
|---|---|---|---|---|---|
| Sensor of Serum Metabolite | Transducer of Serum Metabolite | Secretor of Hormone | |||
| Familial hypocalciuric | Calcium | PTH | CASR | GA11, AP2S1 | |
| Congenital diazoxide-resistant hyperinsulinemic hypoglycemia | Glucose | Insulin | ABCC8, KCNJ11 | ||
| Congenital hyperaldosteronism type III (with KCNJ5 G151E) | Potassium | Aldosterone | KCNJ5 G151E | ||
