Trait: chronic primary adrenal insufficiency

Trait Information
Identifier MONDO_0015129
Description A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. [Orphanet: 101959]
Trait category
Other disease
Synonyms 18 synonyms
  • Addison disease
  • Addison disease, chronic adrenal insufficiency
  • Addison's disease
  • CPAI
  • adrenal aplasia
  • adrenal gland hypofunction
  • adrenal hypoplasia
  • autoimmune Addison disease
  • autoimmune adrenalitis
  • autoimmune primary adrenal insufficiency
  • chronic adrenocorticoid insufficiency
  • classic Addison's disease
  • hypoadrenocorticism familial
  • hypoadrenocorticism, familial
  • primary Addison's disease
  • primary adrenal insufficiency, chronic
  • primary adrenocortical insufficiency
  • primary hypoadrenalism
Mapped terms 10 mapped terms
  • DOID:13774
  • GARD:19803
  • ICD9:255.41
  • MESH:D000224
  • MedDRA:10001130
  • NCIT:C26689
  • OMIM:240200
  • Orphanet:101959
  • SCTID:373662000
  • UMLS:C0001403

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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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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