Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy (NEDHSCA)

神经发育障碍伴有或不伴有肌张力低下-癫痫发作-小脑萎缩(来自ICD-11)

别称:

Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures

Glycosylphosphatidylinositol Biosynthesis Defect 13

Glycosylphosphatidylinositol Biosynthesis Defect 22

Nedhsca

Gpibd13

Nedhcas

Gpibd22

Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly

Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome

Congenital Disorder of Glycosylation Due to Pigg Deficiency

Intellectual Developmental Disorder, Autosomal Recessive 53

Mental Retardation, Autosomal Recessive 53, Formerly

Mental Retardation, Autosomal Recessive, Type 53

Intellectual Disability, Autosomal Recessive 53

Mrt53, Formerly

Pigg-Cdg

Mrt53

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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

神经发育障碍伴有或不伴有低张力、癫痫和小脑萎缩，也称为伴有低张力和小脑萎缩的神经发育障碍，伴有或不伴有癫痫，与低张力和虹膜缺损、先天性心脏病、鱼鳞病样皮肤病、智力发育障碍和耳部异常综合征有关。与神经发育障碍伴有或不伴有低张力、癫痫和小脑萎缩有关的重要基因是PIGG（磷脂酰肌醇甘露糖锚定生物合成类G（EMM血型）），其相关通路/超级通路包括蛋白质代谢和翻译后修饰：GPI-锚定蛋白的合成。相关组织包括大脑，相关表型为癫痫和低张力。

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