Waardenburg syndrome type 2
ORPHA:895Clinical subtypeAutosomal dominantNeonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KITLG | KIT ligand | Disease-causing germline mutation(s) in | gene with protein product | 184745 |
| TYR | tyrosinase | Modifying germline mutation in | gene with protein product | 606933 |
| SNAI2 | snail family transcriptional repressor 2 | Disease-causing germline mutation(s) in | gene with protein product | 602150 |
| SOX10 | SRY-box transcription factor 10 | Disease-causing germline mutation(s) in | gene with protein product | 602229 |
| MITF | melanocyte inducing transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 156845 |
| EDNRB | endothelin receptor type B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 131244 |
Фенотипы (HPO)12
Очень частый (80–99%)3
HP:0000365Hearing impairment
HP:0002216Premature graying of hair
HP:0005599Hypopigmentation of hair
Частый (30–79%)4
HP:0000407Sensorineural hearing impairment
HP:0001053Hypopigmented skin patches
HP:0001100Heterochromia iridis
HP:0002211White forelock
Периодический (5–29%)5
HP:0000077Abnormality of the kidney
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0002251Aganglionic megacolon
HP:0004414Abnormality of the pulmonary artery
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| 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)