Griscelli Syndrome, Type 1 (GS1)

GRISCELLI综合征1型(来自ICD-11)

别称:

Griscelli Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Gs1

Griscelli-Prunieras Syndrome Type 1

Partial Albinism and Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome with Primary Neurologic Impairment

Griscelli Syndrome, Cutaneous and Neurological Type

Griscelli Syndrome, Cutaneous and Neurologic Type

Griscelli Syndrome with Neurological Impairment

Griscelli Syndrome with Neurologic Impairment

Griscelli-Pruniéras Syndrome Type 1

Griscelli Syndrome 1

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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

Griscelli 综合症1型，也被称为Griscelli 综合症1型，与Griscelli 综合症3型和Griscelli 综合症2型有关，症状包括癫痫发作。与Griscelli 综合症1型有关的重要基因是MYO5A（Myosin VA），其相关通路/超级通路包括胰岛素处理和膀胱癌中Rab和Rab效应基因的失衡。附属组织包括皮肤和骨髓，相关表型包括癫痫发作和眼震。

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