Ceroid Lipofuscinosis, Neuronal, 6a (CLN6A)

神经元蜡样脂褐质沉积病6A型(来自ICD-11)

别称:

Cln6 Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, 6

Neuronal Ceroid Lipofuscinosis 6a

Neuronal Ceroid Lipofuscinosis 6

Vlincl

Cln6

Neuronal Ceroid Lipofuscinosis 6 with Variable Age at Onset

Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis 6 Variable Age of Onset

Late Infantile Neuronal Ceroid Lipofuscinosis

Cln6-Related Neuronal Ceroid Lipofuscinosis

Lipofuscinosis, Ceroid, Neuronal, Type 6

Ceroid Lipofuscinosis, Neuronal, 5

Ceroid Lipofuscinosis Neuronal 6

Jansky-Bielschowsky Disease

Late Infantile Ncl

Cln6a

Lincl

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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

神经性Ceroid Lipofuscinosis 6a，也称为cln6病，与神经性Ceroid Lipofuscinosis 2和进行性肌阵挛癫痫有关，其症状包括共济失调、肌阵挛和癫痫发作。与神经性Ceroid Lipofuscinosis 6a有关的重要基因是CLN6（CLN6跨膜ER蛋白）。相关组织包括眼睛和大脑，相关表型为癫痫发作和血管性颗粒状锇质沉积。

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