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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Neuropathy, Hereditary Sensory and Autonomic, Type Ic (HSAN1C)
Alias:
Hsan1c
Neuropathy, Hereditary Sensory and Autonomic, Type 1c
Hereditary Sensory and Autonomic Neuropathy Type 1c
Hsan Ic
Hsn Ic
Hsn1c
Neuropathy, Sensory and Autonomic, Hereditary, Type Ic
Hereditary Sensory and Autonomic Neuropathy Type Ic
Neuropathy, Hereditary Sensory/autonomic, Type Ic
Neuropathy, Hereditary Sensory and Autonomic, 1c
Neuropathy, Hereditary Sensory, Type Ic
Hereditary Sensory Neuropathy Type Ic
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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Ic,也称为hsan1c,与遗传性感觉自主神经病类型1和自主神经病有关,症状包括不适感。与遗传性感觉自主神经病,类型Ic有关的重要基因是SPTLC2(丝氨酸棕榈酰转移酶长链基团亚基2),其相关通路/超级通路包括鞘脂代谢和鞘脂通路。附属组织包括皮肤和周围神经,相关表型为疼痛感觉障碍和运动神经传导速度降低。
Related ID:
MALACARDS:NRP040
OMIM:613640
MESH:D009477
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
10
59
15
NRP040
Medical Symptom
#
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Description
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Orphanet Frequency
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No data available
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Name
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