Oculocutaneous albinism type 2
ORPHA:79432DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)24
Частый (30–79%)17
HP:0000539Abnormality of refraction
HP:0000613Photophobia
HP:0000635Blue irides
HP:0000639Nystagmus
HP:0001010Hypopigmentation of the skin
HP:0001100Heterochromia iridis
HP:0001480Freckling
HP:0002226White eyebrow
HP:0005599Hypopigmentation of hair
HP:0007663Reduced visual acuity
HP:0007703Abnormality of retinal pigmentation
HP:0007730Iris hypopigmentation
HP:0007750Hypoplasia of the fovea
HP:0007988Macular hypopigmentation
HP:0011364White hair
HP:0012805Iris transillumination defect
HP:0025551Optic nerve misrouting
Периодический (5–29%)6
HP:0002227White eyelashes
HP:0002671Basal cell carcinoma
HP:0006739Squamous cell carcinoma of the skin
HP:0012056Cutaneous melanoma
HP:0030856Posterior staphyloma
HP:0200098Absent skin pigmentation
Очень редкий (1–4%)1
HP:0007481Hyperpigmented nevi
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 58.34 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.55 | Worldwide | Value and class |
| Point prevalence | 6-9 / 10 000 | 71.43 | Tanzania, United Republic of | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.78 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 48.52 | Africa | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)