Autoimmune polyendocrinopathy type 1
ORPHA:3453DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)9
HP:0000829Hypoparathyroidism
HP:0002728Chronic mucocutaneous candidiasis
HP:0002960Autoimmunity
HP:0003118Increased circulating cortisol level
HP:0004319Decreased circulating aldosterone level
HP:0008207Primary adrenal insufficiency
HP:0008221Adrenal hyperplasia
HP:0100530Abnormality of calcium-phosphate metabolism
HP:0100659Abnormality of the cerebral vasculature
Частый (30–79%)12
HP:0000518Cataract
HP:0000613Photophobia
HP:0000953Hyperpigmentation of the skin
HP:0000968Ectodermal dysplasia
HP:0001096Keratoconjunctivitis
HP:0006297Enamel hypoplasia
HP:0007759Opacification of the corneal stroma
HP:0008209Premature ovarian insufficiency
HP:0034055Anti-side-chain cleavage enzyme antibody positivity
HP:0034071Anti-21-hydroxylase antibody positivity
HP:0100502Decreased circulating vitamin B12 concentration
HP:0100651Type I diabetes mellitus
Периодический (5–29%)17
HP:0000123Nephritis
HP:0000135Hypogonadism
HP:0000554Uveitis
HP:0000648Optic atrophy
HP:0000872Hashimoto thyroiditis
HP:0001045Vitiligo
HP:0001053Hypopigmented skin patches
HP:0001596Alopecia
HP:0001746Asplenia
HP:0002024Malabsorption
HP:0002582Atrophic gastritis
HP:0006515Interstitial pneumonitis
HP:0007663Reduced visual acuity
HP:0008404Nail dystrophy
HP:0008720Primary testicular failure
HP:0012115Hepatitis
HP:0012804Corneal ulceration
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)