Woolly hair
ORPHA:170DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LPAR6 | lysophosphatidic acid receptor 6 | Disease-causing germline mutation(s) in | gene with protein product | 609239 |
| LIPH | lipase H | Disease-causing germline mutation(s) in | gene with protein product | 607365 |
| KRT74 | keratin 74 | Disease-causing germline mutation(s) in | gene with protein product | 608248 |
| KRT71 | keratin 71 | Disease-causing germline mutation(s) in | gene with protein product | 608245 |
| KRT25 | keratin 25 | Disease-causing germline mutation(s) in | gene with protein product | 616646 |
Фенотипы (HPO)12
Очень частый (80–99%)4
HP:0002213Fine hair
HP:0002224Woolly hair
HP:0002299Brittle hair
HP:0010719Abnormality of hair texture
Частый (30–79%)2
HP:0002217Slow-growing hair
HP:0005599Hypopigmentation of hair
Периодический (5–29%)6
HP:0000479Abnormal retinal morphology
HP:0000486Strabismus
HP:0000518Cataract
HP:0000615Abnormal pupil morphology
HP:0002231Sparse body hair
HP:0005338Sparse lateral eyebrow
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)