Waardenburg Syndrome, Type 2e (WS2E)

Alias:

Waardenburg Syndrome Type 2

Waardenburg Syndrome Type 2e

Ws2e

Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation

Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement

Waardenburg Syndrome Type 2e with or Without Neurologic Involvement

Waardenburg Syndrome, Type Iie

Waardenburg Syndrome Type Iie

Waardenburg Syndrome Type Ii

Ws2

Hypogonadotropic Hypogonadism with Anosmia and Deafness, with or Without Hypopigmentation

Waardenburg Syndrome, Type 2e, with/without Neurologic Involvement

Kallmann Syndrome and Deafness with or Without Hypopigmentation

Waardenburg Syndrome Type 2e, Without Neurologic Involvement

Ws2e with or Without Neurological Involvement

Ws2e, with or Without Neurologic Involvement

Ws2e with or Without Neurologic Involvement

Waardenburg Syndrome 2e

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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

瓦登伯格综合症2e，也称为瓦登伯格综合症2型，与白化病、眼部疾病、晚期感音神经性耳聋和瓦登伯格综合症2c有关。与瓦登伯格综合症2e有关的重要基因是SOX10（性别决定盒转录因子10），其相关通路/超级通路包括信号转导和Wnt / Hedgehog / Notch。相关组织包括皮肤和眼睛，相关表型包括听力障碍和头发过早变白。

Related ID：

MALACARDS：WRD033

OMIM：611584

MESH：D014849