Autoimmune hypoparathyroidism
ORPHA:36913DiseaseNot applicableAdolescent, Adult, Childhood
Фенотипы (HPO)38
Облигатный (100%)1
HP:0011771Autoimmune hypoparathyroidism
Очень частый (80–99%)2
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
Частый (30–79%)8
HP:0000518Cataract
HP:0002150Hypercalciuria
HP:0003401Paresthesia
HP:0030057Autoimmune antibody positivity
HP:0031817Decreased circulating parathyroid hormone level
HP:0031990Chvostek sign
HP:0033748Hypoesthesia
HP:6000919Trousseau sign
Периодический (5–29%)23
HP:0000509Conjunctivitis
HP:0000716Depression
HP:0000737Irritability
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0001265Hyporeflexia
HP:0001289Confusion
HP:0001596Alopecia
HP:0001657Prolonged QT interval
HP:0002071Abnormality of extrapyramidal motor function
HP:0002094Dyspnea
HP:0002135Basal ganglia calcification
HP:0002728Chronic mucocutaneous candidiasis
HP:0002960Autoimmunity
HP:0003394Muscle spasm
HP:0003472Hypocalcemic tetany
HP:0003739Myoclonic spasms
HP:0004724Calcium nephrolithiasis
HP:0011001Increased bone mineral density
HP:0011458Abdominal symptom
HP:0012049Laryngeal dystonia
HP:0025425Laryngospasm
HP:0100749Chest pain
Очень редкий (1–4%)4
HP:0001677Coronaryartery atherosclerosis
HP:0002199Hypocalcemic seizures
HP:0004308Ventricular arrhythmia
HP:0005162Abnormal left ventricular function
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | <1 / 1 000 000 | 0.013 | Korea, Republic of | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.023 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)