Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Chronic oral thrush
Always present (100%)HP:0009098
Constriction of peripheral visual field
Always present (100%)HP:0001133
Decreased serum PTH
Always present (100%)HP:0031817
Hypocalcemic tetany
Always present (100%)HP:0003472
Pancreatitis
Always present (100%)HP:0001733
Pigmentary retinopathy
Always present (100%)HP:0000580
Abnormal Ca2+ PO4 regulating hormone level
Very frequent (80-99%)HP:0100530
Abnormality of the cerebral blood vessels
Very frequent (80-99%)HP:0100659
Addison's disease
Very frequent (80-99%)HP:0008207
Autoimmune disorder
Very frequent (80-99%)HP:0002960
Cushing syndrome
Very frequent (80-99%)HP:0003118
Decreased aldosterone production
Very frequent (80-99%)HP:0004319
Enlarged adrenal glands
Very frequent (80-99%)HP:0008221
Hypoparathyroidism
Very frequent (80-99%)HP:0000829
Mucocutaneous candidiasis
Very frequent (80-99%)HP:0002728
Recurrent fungal infections
Very frequent (80-99%)HP:0002841
Alopecia universalis
Frequent (30-79%)HP:0002289
Anti-21-hydroxylase antibody positivity
Frequent (30-79%)HP:0034071
Anti-P450scc
Frequent (30-79%)HP:0034055
Cataract
Frequent (30-79%)HP:0000518
Corneal stromal opacity
Frequent (30-79%)HP:0007759
Defective enamel matrix
Frequent (30-79%)HP:0006297
Diarrhea
Frequent (30-79%)HP:0002014
Ectodermal dysplasia
Frequent (30-79%)HP:0000968
Gallstones
Frequent (30-79%)HP:0001081
Hypoadrenalism
Frequent (30-79%)HP:0000846
Keratoconjunctivitis
Frequent (30-79%)HP:0001096
Melanoderma
Frequent (30-79%)HP:0000953
Photophobia
Frequent (30-79%)HP:0000613
Premature menopause
Frequent (30-79%)HP:0008209
Related Conditions
Autoimmune polyendocrinopathy(parent)
Autoimmune hypoparathyroidism(parent)
Addison's disease(parent)
Chronic mucocutaneous candidiasis(parent)
Chronic disease of immune function(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of endocrine system(parent)
Quick Facts
- SNOMED CT
- 11244009
- UMLS CUI
- C0085859
- Fully Specified Name
- Polyglandular autoimmune syndrome, type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.