Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

Alias:

Ocular Albinism with Late-Onset Sensorineural Deafness

Ocular Albinism with Sensorineural Deafness

Ocular Albinism with Late-Onset Sensorineural Hearing Loss

Albinism, Ocular, with Sensorineural Deafness

Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism

Albinism Ocular Late Onset Sensorineural Deafness

Waardenburg Syndrome/ocular Albinism, Digenic

Digenic Waardenburg Syndrome/ocular Albinism

Ocular Albinism and Sensorineural Deafness

Waardenburg Syndrome/albinism, Digenic

Digenic Waardenburg Syndrome/albinism

Deafness and Ocular Albinism

Ws2-Oa

Oasd

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

白化病，眼部，伴有迟发性感觉神经性耳聋，也称为眼部白化病伴有迟发性感觉神经性耳聋，与白化病和眼部白化病，类型I有关。与白化病，眼部，伴有迟发性感觉神经性耳聋有关的重要基因是TYR（酪氨酸酶），其相关通路/超级通路包括过氧化物酶体脂质代谢和蛋白质泛素化。附属组织包括眼睛，相关表型为眼震和感觉神经性听力障碍。

Related ID：

MALACARDS：ALB025

OMIM：300650