Aliases: ACTHR.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Familial Glucocorticoid Deficiency | causative germline |
mechanism: ACTH Receptor Complex Signaling Failure
subtype: FGD1
scoped to subtype: FGD1
|
| Chronic Primary Adrenal Insufficiency |
untyped
Loss-of-function mutations cause familial glucocorticoid deficiency type 1 (ACTH resistance) with isolated glucocorticoid deficiency and preserved mineralocorticoid function.
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.