autoimmune polyendocrine syndromes
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
autoimmune disease metabolic disorder |
| gptkbp:affects |
endocrine system
immune system |
| gptkbp:alsoKnownAs |
polyendocrinopathy syndromes
polyglandular autoimmune syndromes |
| gptkbp:characterizedBy |
autoimmune destruction of endocrine tissues
multiple endocrine gland insufficiencies |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
1943
|
| gptkbp:geneticStudies |
AIRE gene mutation (type 1)
HLA-DR3/DR4 (type 2) |
| https://www.w3.org/2000/01/rdf-schema#label |
autoimmune polyendocrine syndromes
|
| gptkbp:inheritance |
autosomal recessive (type 1)
polygenic (type 2) |
| gptkbp:mayInclude |
gptkb:hypoparathyroidism
gptkb:type_1_diabetes_mellitus gptkb:chronic_mucocutaneous_candidiasis pernicious anemia alopecia Addison's disease vitiligo thyroiditis gonadal failure |
| gptkbp:onset |
adulthood (type 2)
childhood (type 1) |
| gptkbp:subspecies |
autoimmune polyendocrine syndrome type 1
autoimmune polyendocrine syndrome type 2 autoimmune polyendocrine syndrome type 3 |
| gptkbp:treatment |
immunosuppressive therapy
hormone replacement therapy |
| gptkbp:bfsParent |
gptkb:Primary_Adrenal_Insufficiency
|
| gptkbp:bfsLayer |
7
|