Autoimmune Polyglandular Syndrome Type 1

Preferred Label : Autoimmune Polyglandular Syndrome Type 1;

NCIt related terms : Autoimmune Polyendocrine Syndrome Type 1; Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome; Polyglandular Autoimmune Syndrome Type 1; APS1; APECED Syndrome;

Alternative definition : NICHD: Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum.;

Details

Origin ID

C129727;

UMLS CUI

C0085859;

Automatic exact mappings (from CISMeF team)
- Nudix hydrolase 11 [OMIM gene]
- autoimmune regulator [ORDO Gene]
Currated CISMeF NLP mapping
- APECED syndrome [PASCAL descriptor]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
- Autoimmune polyendocrinopathy type 1 [ICD-11 More detail]
- Polyglandular autoimmune syndrome type I [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 1 (disorder) [SNOMED CT concept]
- autoimmune polyendocrine syndrome type 1 [DO Concept]
- autoimmune polyglandular syndrome type I [Disease (Nov.)]
- polyglandular autoimmune syndrome, type 1 [SNOMED Notion]
- polyglandular type I autoimmune syndrome [MeSH concept]
See also inter- (CISMeF)
- Autoimmune polyendocrinopathy syndrome, type 1 [MeSH concept]
- autoimmune polyendocrinopathy syndrome, type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Polyglandular autoimmune syndrome type I [MedDRA Preferred Term]
- Polyglandular autoimmune syndrome, type 1 (disorder) [SNOMED CT concept]
- polyglandular autoimmune syndrome, type 1 [SNOMED Notion]
- polyglandular type I autoimmune syndrome [MeSH concept]
Validated automatic mappings to NTBT
- polyendocrinopathies, autoimmune [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- AIRE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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