Mayer-Rokitansky-Küster-Hauser syndrome
ORPHA:3109Malformation syndromeAutosomal dominant, Not applicableAdolescent, Antenatal
Фенотипы (HPO)24
Очень частый (80–99%)3
HP:0000151Aplasia of the uterus
HP:0000786Primary amenorrhea
HP:0008726Hypoplasia of the vagina
Частый (30–79%)5
HP:0000077Abnormality of the kidney
HP:0000716Depression
HP:0000739Anxiety
HP:0002027Abdominal pain
HP:0030016Dyspareunia
Периодический (5–29%)13
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000122Unilateral renal agenesis
HP:0002948Vertebral fusion
HP:0003312Abnormal form of the vertebral bodies
HP:0003422Vertebral segmentation defect
HP:0005107Abnormal sacrum morphology
HP:0007302Bipolar affective disorder
HP:0010463Aplasia of the ovary
HP:0030127Endometriosis
HP:0031086Ectopic ovary
HP:0031703Abnormal ear morphology
HP:0033511Addictive substance use
Очень редкий (1–4%)3
HP:0000365Hearing impairment
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 11 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)