Pettigrew Syndrome (PGS)

Pettigrew综合征(来自ICD-11)

别称:

Mrxs21

Mrx59

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Syndromic X-Linked Intellectual Disability 5

Mental Retardation, X-Linked, Syndromic 5

Mental Retardation, X-Linked Syndromic 5

Fried Syndrome

Mrxs5

Mrxsf

Pgs

Mental Retardation, X-Linked, with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures

X-Linked Metal Retardation with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked Syndromic, Fried Type

Syndromic X-Linked Mental Retardation Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Mental Retardation, X-Linked 59

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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

佩蒂格鲁综合症，也被称为 mrxs21，与丹-沃克综合症和脑积水有关，症状包括肌肉痉挛、癫痫发作和步态共济失调。与佩蒂格鲁综合症有关的重要基因是 AP1S2（相关蛋白复合物1亚基sigma 2），其相关通路/超级通路包括 MHC 类 I 介导的抗原处理和呈递以及 HIV 生活周期。相关组织包括大脑和眼睛，相关表型为巨脑和步态障碍。

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