MeSH Browser

MeSH Supplementary: Autoimmune polyendocrinopathy syndrome, type 1
Unique ID: C538275
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538275
Entry Term(s): Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant; Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia; Autoimmune polyendocrine syndrome, type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; Polyglandular Deficiency Syndrome, Persian-Jewish Type
Registry Number: 0
Heading Mapped to: *Polyendocrinopathies, Autoimmune
Frequency: 75
Note: Disorder that is characterized by the presence of 2 of 3 major clinical symptoms: ADDISON DISEASE, and/or HYPOPARATHYROIDISM, and/or CHRONIC MUCOCUTANEOUS CANDIDIASIS. MALABSORPTION SYNDROMES and DIARRHEA are also common. Germline mutations in the AIRE gene have been identified. OMIM: 240300
Date of Entry: 2010/08/25
Revision Date: 2015/08/17

Autoimmune polyendocrinopathy syndrome, type 1 MeSH Supplementary Concept Data 2024