Trait: adrenocortical insufficiency

Trait Information
Identifier MONDO_0000004
Description An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). [NCIT: C26691]
Trait category
Other trait
Synonyms 8 synonyms
  • adrenal cortical hypofunction
  • adrenal cortical insufficiency
  • adrenal gland insufficiency
  • adrenal insufficiency
  • adrenocortical insufficiency
  • hypoadrenalism
  • hypocortisolemia
  • hypocortisolism
Child trait(s) chronic primary adrenal insufficiency

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Multi-ancestry (excluding European)
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows PGS for child terms of "adrenocortical insufficiency" in the EFO hierarchy.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004239
(PRS14AAD)
 PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
 Autoimmune Addison's disease chronic primary adrenal insufficiency 14
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004239/ScoringFiles/PGS004239.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020281 PGS004239
(PRS14AAD)
 PSS011323|
Ancestry Not Reported|
1,500 individuals
 PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
 Reported Trait: Autoimmune Addison's disease OR: 6.4 [5.2, 8.0] AUROC: 0.88 — — —
PPM020282 PGS004239
(PRS14AAD)
 PSS011323|
Ancestry Not Reported|
1,500 individuals
 PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
 Reported Trait: Age of onset of autoimmune Addison's disease β: -3.8 [-4.7, -2.8] — — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011323 — —
[
  • 340 cases
  • , 1,160 controls
]
 — Not reported — NAR, SAR —