Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
ORPHA:369929DiseaseNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Облигатный (100%)3
HP:0000822Hypertension
HP:0000859Hyperaldosteronism
HP:0040084Abnormal circulating renin
Очень частый (80–99%)5
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001714Ventricular hypertrophy
HP:0002900Hypokalemia
HP:0100021Cerebral palsy
Частый (30–79%)13
HP:0001258Spastic paraplegia
HP:0001959Polydipsia
HP:0002069Bilateral tonic-clonic seizure
HP:0002092Pulmonary arterial hypertension
HP:0002305Athetosis
HP:0002384Focal impaired awareness seizure
HP:0010864Intellectual disability, severe
HP:0011166Focal myoclonic seizure
HP:0011410Caesarian section
HP:0011706Second degree atrioventricular block
HP:0100285EMG: impaired neuromuscular transmission
HP:0100704Cerebral visual impairment
HP:0200114Metabolic alkalosis
Периодический (5–29%)7
HP:0000360Tinnitus
HP:0000421Epistaxis
HP:0000787Nephrolithiasis
HP:0001629Ventricular septal defect
HP:0002018Nausea
HP:0002170Intracranial hemorrhage
HP:0002315Headache
Очень редкий (1–4%)1
HP:0008221Adrenal hyperplasia
Исключён (0%)1
HP:0011739Dexamethasone-suppresible primary hyperaldosteronism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)