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Autoimmune polyendocrinopathy type 1
1 OMIM reference -
1 associated gene
22 connected diseases
15 signs/symptoms
Disease Type of connection
Cornelia de Lange syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Adult-onset autosomal dominant leukodystrophy
Neuroblastoma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Acute necrotizing encephalopathy of childhood
Autosomal agammaglobulinemia
Chronic myeloid leukemia
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Mandibulofacial dysostosis-microcephaly syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
SHORT syndrome
Spinocerebellar ataxia type 36
Young adult-onset Parkinsonism
Synonym(s):
- APECED syndrome
- APS1
- Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
- Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease
- Autoimmune polyendocrine syndrome type 1
- Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
- Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
- Autoimmune polyglandular syndrome type 1
- HAM syndrome
- Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis
- Hypoparathyroidism - Addison's disease - mucocutaneous candidosis
- MEDAC syndrome
- Multiple endocrine deficiency - Addison's disease - candidiasis
- Multiple endocrine deficiency - Addison's disease - candidosis
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare immune disease
- Rare infertility
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538275
Gene symbol UniProt reference OMIM reference
AIRE O43918607358
Very frequent
- Autoimmunity / autoimmune reaction / autoantibodies
- Autosomal recessive inheritance
- Cerebral vascular anomalies
- Corneal clouding / opacity / vascularisation
- Cortico-adrenal hyperplasia / hypersecretion
- Cortico-adrenal hypoplasia / insufficiency
- Dysplastic / thick / grooved fingernails
- Hypoparathyroidy
- Mild visual loss / impaired visual acuity
- Phosphocalcic metabolism anomalies
- Photophobia

Frequent
- Cataract / lens opacification

Occasional
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intracranial / cerebral calcifications
- Irregular / patchy skin hypopigmentation