Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 (MPPH1)

巨脑畸形-多小脑回-多指趾畸形-脑积水综合征1型(来自ICD-11)

别称:

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome

Mpph

Meg-Pmg-Megacc Syndrome

Mpph Syndrome

Mpph1

Megalencephaly, Mega Corpus Callosum, and Complete Lack of Motor Development

Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome

Megalencephaly Mega Corpus Callosum and Complete Lack of Motor Development

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 1

Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome

Megalencephaly-Polymicrogyria-Mega Corpus Callosum Syndrome

Meg-Pmg-Poly-Hyd

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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

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1，也被称为巨脑回-多小脑回-多指-脑积水综合征，与巨脑回-多小脑回-后轴多指-脑积水综合征和巨脑回-多小脑回-多指-脑积水综合征2有关，症状包括癫痫发作。与Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1有关的重要基因是PIK3R2（磷脂酰肌醇-3-激酶调节亚基2）。相关组织包括大脑和舌，相关表型为脑积水和脑室扩大。

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