Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:227982 Autoimmune polyendocrinopathy type 3

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *

Chronic atrophic gastritis HP:0002582

Graves disease HP:0100647

Hashimoto thyroiditis HP:0000872

Type I diabetes mellitus HP:0100651

Alopecia HP:0001596

Vitiligo HP:0001045

Hypergonadotropic hypogonadism HP:0000815

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Always present

Autoimmunity HP:0002960

Frequent

Autoimmune antibody positivity HP:0030057
Celiac disease HP:0002608
Chronic atrophic gastritis HP:0002582
Graves disease HP:0100647
Hashimoto thyroiditis HP:0000872
Macrocytic anemia HP:0001972
Type I diabetes mellitus HP:0100651

Occasional

Alopecia HP:0001596
Anterior pituitary dysgenesis HP:0010625
Biliary cirrhosis HP:0002613
Decreased antibody level in blood HP:0004313
Leukopenia HP:0001882
Vitiligo HP:0001045

Rare

Abnormal blistering of the skin HP:0008066
Antiphospholipid antibody positivity HP:0003613
Aplasia/Hypoplasia of the spleen HP:0010451
Autoimmune hypoparathyroidism HP:0011771
Autoimmune thrombocytopenia HP:0001973
Central diabetes insipidus HP:0000863
Hepatitis HP:0012115
Hypergonadotropic hypogonadism HP:0000815
Interstitial pulmonary abnormality HP:0006530
Iridocyclitis HP:0001094
Keratoconjunctivitis sicca HP:0001097
Non-caseating epithelioid cell granulomatosis HP:0012220
Osteopenia HP:0000938
Rheumatoid arthritis HP:0001370
Thymoma HP:0100522
Tubulointerstitial nephritis HP:0001970
Xerostomia HP:0000217

Exclusion criterion *

Chronic mucocutaneous candidiasis HP:0002728
Primary adrenal insufficiency HP:0008207

* Phenotypic abnormalities noted as « exclusion criterion » are those that are always absent in a particular disease and therefore exclude its diagnosis.

Additional information

Further information

Disease(s)/group of diseases

Specialised Social Services

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Warning

The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.