Mednik Syndrome (MEDNIK)

Alias:

Erythrokeratodermia Variabilis 3

Impaired Intellectual Development, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Erythrokeratodermia Variabilis, Kamouraska Type

Mednik

Ekv3

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Erythrokeratodermia Variabilis Kamouraska Type

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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

梅尼克综合症，又称变异性红斑角化病3，与铜代谢障碍和脑发育不良、神经病变、鱼鳞病和掌跖角化病综合征有关，症状包括腹泻。与梅尼克综合症有关的重要基因是AP1S1（Adaptor Related Protein Complex 1 Subunit Sigma 1），其相关通路/超级通路包括先天免疫系统和囊泡介导的运输。相关组织包括皮肤和大脑，相关表型包括智力障碍和鱼鳞病。

Related ID：

MALACARDS：MDN005

OMIM：609313

MESH：D007057