Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia

Preferred Label : Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia;

Symbol : APS1;

CISMeF acronym : APECED; APS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aps I; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; Autoimmune polyglandular syndrome, type I; Polyglandular autoimmune syndrome, type I; Pga I; Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; APECED;

Included titles and symbols : Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant; Polyglandular deficiency syndrome, persian-jewish type;

Description : Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the autoimmune regulator gene (AIRE, 607358.0001);

Laboratory abnormalities : Multiple autoantibodies; Antiretinal antibodies;

Prefixed ID : #240300;

Details

Origin ID

240300;

UMLS CUI

C0085859;

Automatic exact mappings (from CISMeF team)
- AIRE wt Allele [NCIt concept]
- KLK3 wt Allele [NCIt concept]
- SH2B Adapter Protein 2 [NCIt concept]
- SH2B2 Gene [NCIt concept]
- autoimmune polyendocrinopathy syndrome, type I, autosomal dominant [MeSH concept]
- autoimmune regulator [ORDO Gene]
- autoimmune regulator [HGNC gene]
- polyendocrinopathies, autoimmune [MeSH Descriptor]
- polyglandular deficiency syndrome, Persian-Jewish type [MeSH concept]
Currated CISMeF NLP mapping
- APECED syndrome [PASCAL descriptor]
- Autoimmune Polyglandular Syndrome Type 1 [NCIt concept]
- Autoimmune polyendocrinopathy syndrome, type 1 [MeSH concept]
- Autoimmune polyendocrinopathy type 1 [ICD-11 More detail]
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
- 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 polyendocrinopathy syndrome, type 1 [MeSH Supplementary Concept]
- autoimmune polyglandular syndrome type I [Disease (Nov.)]
- polyglandular type I autoimmune syndrome [MeSH concept]
DO Cross reference
- autoimmune polyendocrine syndrome type 1 [DO Concept]
False automatic mappings
- prostaglandins A [MeSH Descriptor]
Genes related to phenotype
- Autoimmune regulator [OMIM gene]
HPO term(s)
- Addison disease [HPO term]
- Adrenal insufficiency [HPO term]
- Alopecia [HPO term]
- Alopecia universalis [HPO term]
- Asplenia [HPO term]
- Atrophic gastritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Childhood onset [HPO term]
- Cholelithiasis [HPO term]
- Chronic active hepatitis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Chronic oral candidiasis [HPO term]
- Constriction of peripheral visual field [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating parathyroid hormone level [HPO term]
- Diarrhea [HPO term]
- Enamel hypoplasia [HPO term]
- Female hypogonadism [HPO term]
- Hypoaldosteronism, transient, isolated [HPO term]
- Hypoparathyroidism [HPO term]
- Hypothyroidism [HPO term]
- Iridocyclitis [HPO term]
- Keratoconjunctivitis [HPO term]
- Malabsorption [HPO term]
- Male hypogonadism [HPO term]
- Nail dystrophy [HPO term]
- Nephrocalcinosis [HPO term]
- Perifoveal ring of hyperautofluorescence [HPO term]
- Pigmentary retinopathy [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary adrenal insufficiency [HPO term]
- Reduced visual acuity [HPO term]
- Tympanosclerosis [HPO term]
- Type I diabetes mellitus [HPO term]
- Usually autosomal dominant [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Polyglandular Syndrome Type 1 [NCIt concept]
- 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]

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