Familial dysautonomia
ORPHA:1764DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)12
HP:0000522Alacrima
HP:0000615Abnormal pupil morphology
HP:0000966Hypohidrosis
HP:0000975Hyperhidrosis
HP:0001265Hyporeflexia
HP:0001278Orthostatic hypotension
HP:0001510Growth delay
HP:0002047Malignant hyperthermia
HP:0003457EMG abnormality
HP:0007328Impaired pain sensation
HP:0008872Feeding difficulties in infancy
HP:0009830Peripheral neuropathy
Частый (30–79%)8
HP:0000708Atypical behavior
HP:0000822Hypertension
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0200020Corneal erosion
Периодический (5–29%)17
HP:0000077Abnormality of the kidney
HP:0000083Renal insufficiency
HP:0000545Myopia
HP:0000648Optic atrophy
HP:0001063Acrocyanosis
HP:0001100Heterochromia iridis
HP:0001250Seizure
HP:0001649Tachycardia
HP:0002020Gastroesophageal reflux
HP:0002103Abnormality of the pleura
HP:0002585Abnormality of the peritoneum
HP:0002757Recurrent fractures
HP:0002797Osteolysis
HP:0002902Hyponatremia
HP:0007957Corneal opacity
HP:0010885Avascular necrosis
HP:0100820Glomerulopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 18.5 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)