X-linked Alport syndrome-diffuse leiomyomatosis
ORPHA:1018Clinical subtypeX-linked dominantAdolescent, Adult, Childhood
Ассоциированные гены2
Фенотипы (HPO)39
Очень частый (80–99%)4
HP:0002015Dysphagia
HP:0002031Abnormal esophagus morphology
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0100751Esophageal neoplasm
Частый (30–79%)17
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0000407Sensorineural hearing impairment
HP:0000478Abnormality of the eye
HP:0000518Cataract
HP:0000790Hematuria
HP:0001508Failure to thrive
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002571Achalasia
HP:0003262Smooth muscle antibody positivity
HP:0006756Diffuse leiomyomatosis
HP:0010460Abnormality of the female genitalia
HP:0012622Chronic kidney disease
HP:0100749Chest pain
HP:0100771Hypoperistalsis
HP:0410281Dyspepsia
Периодический (5–29%)18
HP:0000491Keratitis
HP:0000545Myopia
HP:0001824Weight loss
HP:0002094Dyspnea
HP:0002205Recurrent respiratory infections
HP:0003774Stage 5 chronic kidney disease
HP:0006524Tracheobronchial leiomyomatosis
HP:0010450Esophageal stenosis
HP:0010614Fibroma
HP:0010784Uterine neoplasm
HP:0011501Anterior lenticonus
HP:0011951Aspiration pneumonia
HP:0012252Abnormal respiratory system morphology
HP:0012735Cough
HP:0030416Vulvar neoplasm
HP:0032141Precordial pain
HP:0040288Nasogastric tube feeding
HP:0100650Vaginal neoplasm
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)