Neuropathy, Hereditary Sensory, Type Ie (HSN1E)

Alias:

Hsn1e

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Neuropathy, Hereditary Sensory, Type I

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsn Ie

Hsan1e

Neuropathy, Hereditary Sensory, with Hearing Loss and Dementia

Neuropathy Hereditary Sensory with Hearing Loss and Dementia

Hereditary Sensory and Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory Neuropathy Type I

Hereditary Sensory Neuropathy Type 1

Neuropathy, Hereditary Sensory, 1e

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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Ie，也称为hsn1e，与遗传性感觉自主神经病类型1和遗传性感觉自主神经病，类型ia有关。与遗传性感觉自主神经病，类型Ie有关的重要基因是DNMT1（DNA甲基转移酶1），其相关通路/超级通路包括线粒体生物发生转录激活和能量代谢。在该疾病的背景下提到了Serine（丝氨酸）药物。相关组织包括大脑和周围神经，相关表型为感觉神经病和痴呆症。

Related ID：

MALACARDS：NRP041

OMIM：614116

MESH：D009477