Waardenburg-Shah syndrome
ORPHA:897DiseaseAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SOX10 | SRY-box transcription factor 10 | Disease-causing germline mutation(s) in | gene with protein product | 602229 |
| EDN3 | endothelin 3 | Disease-causing germline mutation(s) in | gene with protein product | 131242 |
| EDNRB | endothelin receptor type B | Disease-causing germline mutation(s) in | gene with protein product | 131244 |
| MITF | melanocyte inducing transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 156845 |
Фенотипы (HPO)23
Очень частый (80–99%)14
HP:0000365Hearing impairment
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000534Abnormal eyebrow morphology
HP:0001103Abnormal macular morphology
HP:0002019Constipation
HP:0002211White forelock
HP:0002216Premature graying of hair
HP:0002226White eyebrow
HP:0002227White eyelashes
HP:0002242Abnormal intestine morphology
HP:0002251Aganglionic megacolon
HP:0005214Intestinal obstruction
HP:0005599Hypopigmentation of hair
Частый (30–79%)7
HP:0000366Abnormality of the nose
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000664Synophrys
HP:0001341Olfactory lobe agenesis
HP:0002027Abdominal pain
Периодический (5–29%)2
HP:0000506Telecanthus
HP:0007703Abnormality of retinal pigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)