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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00256 | Familial glucocorticoid deficiency | ... life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP). | Endocrine and metabolic disease |
(FGD1) MC2R [HSA:4158] [KO:K04200] (FGD2) MRAP [HSA:56246] [KO:K22398] (FGD4) NNT [HSA:23530] [KO:K00323] (FGD5) TXNRD2 [HSA:10587] [KO:K22182] |
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| H02049 | Bilateral macronodular adrenal hyperplasia | Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal ... | Endocrine and metabolic disease |
ARMC5 [HSA:79798] [KO:K22499] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] GNAS1 [HSA:2778] [KO:K04632] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |