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Details for phenotype: Addison disease
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EndoNet ID: ENP00479
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Name
Addison disease
General information
This phenotype is pathologic
Adrenal insufficiency, or Addison’s disease, can present as a life-threatening crises, because it is frequently unrecognized in its early stages.
[1]
Links to other resources
GO
regulation of steroid biosynthetic process
Medline Plus
000378
MeSH term
D000224
Disease database
222
Phenotype triggers
ACTH receptor
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in
adrenal_cortex
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Congenital adrenal hypoplasia (AHC), mutations of steroidogenic factor-1, and ACTH unresponsiveness can all lead to adrenal dysgenesis/hypoplasia, albeit the latter usually results in isolated deficiency of glucocorticoids.
[1]
Reference
