Waardenburg syndrome type 1
ORPHA:894Clinical subtypeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)16
HP:0000303Mandibular prognathia
HP:0000365Hearing impairment
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000506Telecanthus
HP:0000574Thick eyebrow
HP:0000632Lacrimation abnormality
HP:0001053Hypopigmented skin patches
HP:0001100Heterochromia iridis
HP:0002211White forelock
HP:0002226White eyebrow
HP:0002227White eyelashes
HP:0003196Short nose
HP:0005599Hypopigmentation of hair
HP:0008527Congenital sensorineural hearing impairment
HP:0011364White hair
Частый (30–79%)6
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000664Synophrys
HP:0001595Abnormality of the hair
HP:0002216Premature graying of hair
HP:0010804Tented upper lip vermilion
Периодический (5–29%)10
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000912Sprengel anomaly
HP:0002251Aganglionic megacolon
HP:0002414Spina bifida
HP:0002435Meningocele
HP:0002650Scoliosis
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)