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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 Iii (HSAN3)
Alias:
Familial Dysautonomia
Riley-Day Syndrome
Hsan3
Hereditary Sensory and Autonomic Neuropathy Type Iii
Dysautonomia, Familial
Hsan Iii
Hereditary Sensory and Autonomic Neuropathy Type 3
Dys
Fd
Hsan3 - [hereditary Sensory and Autonomic Neuropathy Type 3]
Neuropathy, Sensory and Autonomic, Hereditary, Type Iii
Hereditary Sensory Autonomic Neuropathy Type Iii
Neuropathy, Hereditary Sensory and Autonomic, 3
Hereditary Sensory and Autonomic Neuropathy 3
Familial Autonomic Nervous Dysfunction
Dysautonomia Familial
Riley Day Syndrome
Hsan Type Iii
Hsn-Iii
Hsn Iii
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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III,也称为家族性自主神经失调,与先天性无痛、无汗症和自主神经系统疾病有关,症状包括便秘和腹泻。与遗传性感觉自主神经病,类型III有关的重要基因是ELP1(Elongator Acetyltransferase Complex Subunit 1),其相关通路/超级通路包括染色体组织和受体酪氨酸激酶信号传导。在该疾病的背景下提到了多巴胺和卡比多巴。附属组织包括皮肤和眼睛,相关表型包括婴儿期的多汗症和喂养困难。
Related ID:
MALACARDS:NRP054
OMIM:223900
MESH:D004402
ICD11:831377479
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-5/10000
26
252
104
NRP054
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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