Neuropathy, Hereditary Sensory and Autonomic, Type Iia (HSAN2A)

遗传性感觉-自主神经病2A型(来自ICD-11)

别称:

Hereditary Sensory and Autonomic Neuropathy Type 2

Hereditary Sensory and Autonomic Neuropathy Type Ii

Hsan2

Hsan2a

Neurogenic Acroosteolysis

Morvan Syndrome

Morvan Disease

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Neuropathy, Hereditary Sensory and Autonomic, Type Ii

Neuropathy, Hereditary Sensory and Autonomic, Type 2a

Hereditary Sensory and Autonomic Neuropathy Type Iia

Hereditary Sensory and Autonomic Neuropathy Type 2a

Autosomal Recessive Sensory Radicular Neuropathy

Congenital Sensory Neuropathy

Morvan Fibrillary Chorea

Hsan Type Ii

Hsan Iia

Hsn Iia

Hsanii

Hsn2a

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Neuropathy, Sensory and Autonomic, Hereditary, Type Iia

Neuropathy, Hereditary Sensory and Autonomic, Type Iib

Neuropathy, Hereditary Sensory and Autonomic, 2a

Hereditary Motor and Sensory-Neuropathy Type Ii

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Sensory Autonomic Neuropathy Type 2

Neuropathy, Progressive Sensory, of Children

Progressive Sensory Neuropathy of Children

Neuropathy, Hereditary Sensory, Type Iia

Hereditary Sensory Neuropathy Type Iia

Neuropathy, Congenital Sensory

Sensory Neuropathy, Hereditary

Neuropathy Congenital Sensory

Acroosteolysis, Giaccai Type

Charcot-Marie-Tooth Disease

Acroosteolysis Giaccai Type

Acroosteolysis, Neurogenic

Acroosteolysis Neurogenic

Morvan's Disease

Hsn Type Ii

Hsan2b

Hsan2c

Hsan2d

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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

遗传性感觉自主神经病，类型Iia，也称为遗传性感觉自主神经病2，与Charcot-Marie-Tooth病和先天性脱髓鞘性神经病1，常染色体隐性遗传有关。与遗传性感觉自主神经病，类型Iia相关的基因是WNK1（WNK赖氨酸缺乏蛋白激酶1），其相关通路/超级通路包括利尿剂通路，药理动力学。在该疾病的背景下，已经提到了叶酸和硫辛酸。附属组织包括脊髓和舌，相关表型为多汗症和过度屈曲。

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