Oculocutaneous albinism type I or type 1A [1] is form of the autosomal recessive condition oculocutaneous albinism that is caused by a dysfunction in the gene for tyrosinase (symbol TYR or OCA1).

Genetic Heterogeneity of Oculocutaneous Albinism OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase.

白化病 （albinism）又称眼皮肤白化病（oculocutaneous albinism，OCA）、泛 发性白化病、白斑病、先天性色素缺乏，是一种常染色体隐性遗传性皮肤病。 表 现为皮肤、毛发、眼睛的部分或完全的色素缺失。 本病有遗传异质性，与黑素形 成及转运相关的多种基因均可导致疾病表型的发生。 泛发性白化病分为 7 型：OCA1 型又分为两个亚型，OCA1A 和 OCA1B。 两 亚型在出生时不能区分，二者均有 TYR （tyrosinase 酪氨酸酶）基因的突变，导致 酪氨酸酶活性改变，引起临 …

2015年8月18日 · Oculocutaneous albinism type 1 (OCA1) is associated with reduced production of melanin in the skin, hair and eyes. There are two types of OCA1. Individuals affected with OCA1A have a complete absence of melanin pigment resulting in white hair and white skin at birth and irises that do not become darker over time.

OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase.

与白化病，皮肤和眼表型Ia型有关的重要基因是TYR（酪氨酸酶），其相关通路/超级通路包括SLITs和ROBOs表达的调节和普拉德-威利和安吉尔曼综合症。 附属组织包括皮肤和眼睛，相关表型为眼震和视觉诱发电位异常。 该模块正在开发中，请耐心等待我们的数据更新。 ... Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

突变 酪氨酸 基因导致酪氨酸酶活性缺失（OCA1A）或降低（OCA1B）。 酪氨酸酶催化黑色素合成的几个步骤。 在 OCA1A 中，皮肤和头发呈乳白色，眼睛呈蓝灰色（视力下降是这种形式的 OCA 中最严重的）。 而OCA1B的色素减退程度个人不同，可明显，也可不明显。 OCA1A 占所有 OCA 的 40%。 P蛋白的功能尚不清楚，可能涉及细胞器pH的调节和液泡谷胱甘肽的积累。 OCA Ⅱ型的表型有多种，色素减退的程度可从轻度到中度不等。 在日晒后可出现色素痣和色素 …

2022年8月20日 · 眼皮肤白化病 (OCA) 是一组罕见的遗传性疾病，其特征是皮肤、头发和眼睛中的黑色素减少或完全缺乏。 这些情况是由特定基因的突变引起的，这些基因是在称为黑色素细胞的特殊细胞中产生黑色素色素所必需的。 黑色素缺乏或不足会导致眼睛发育异常，导致视力异常，以及容易受到阳光伤害的浅色皮肤，包括皮肤癌。 视觉变化包括眼球震颤（不自主的左右眼球运动）、斜视和畏光（对光敏感）。 其他变化包括中心凹发育不全（影响视力）和视神经路径错误。 …

A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. The worldwide prevalence of OCA1 is estimated at 1/40,000.

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light).