Autoimmune polyendocrinopathy type 4
ORPHA:227990DiseaseMultigenic/multifactorialAdult
Фенотипы (HPO)32
Облигатный (100%)1
HP:0002960Autoimmunity
Частый (30–79%)5
HP:0001972Macrocytic anemia
HP:0002582Atrophic gastritis
HP:0002608Celiac disease
HP:0030057Autoimmune antibody positivity
HP:0100651Type I diabetes mellitus
Периодический (5–29%)6
HP:0001045Vitiligo
HP:0001596Alopecia
HP:0001882Leukopenia
HP:0002613Biliary cirrhosis
HP:0004313Decreased circulating antibody level
HP:0010625Anterior pituitary dysgenesis
Очень редкий (1–4%)16
HP:0000217Xerostomia
HP:0000815Hypergonadotropic hypogonadism
HP:0000863Central diabetes insipidus
HP:0000938Osteopenia
HP:0001094Iridocyclitis
HP:0001097Keratoconjunctivitis sicca
HP:0001370Rheumatoid arthritis
HP:0001970Tubulointerstitial nephritis
HP:0001973Autoimmune thrombocytopenia
HP:0003613Antiphospholipid antibody positivity
HP:0006530Abnormal pulmonary interstitial morphology
HP:0008066Abnormal blistering of the skin
HP:0010451Aplasia/Hypoplasia of the spleen
HP:0012115Hepatitis
HP:0012220Non-caseating epithelioid cell granulomatosis
HP:0100522Thymoma
Исключён (0%)4
HP:0000872Hashimoto thyroiditis
HP:0002728Chronic mucocutaneous candidiasis
HP:0008207Primary adrenal insufficiency
HP:0100647Graves disease
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)