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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
Neurofibromatosis, Type I (NF1)
Alias:
Von Recklinghausen Disease
Neurofibromatosis 1
Nf1
Neurofibromatosis, Type 1
Neurofibromatosis Type 1
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion
Neurofibromatosis, Peripheral Type
Peripheral Neurofibromatosis
Neurofibromatosis Type I
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion
Von Recklinghausen's Neurofibromatosis
Recklinghausen's Neurofibromatosis
Nonmosaic Neurofibromatosis Type 1
Peripheral Type Neurofibromatosis
Neurofibromatosis Peripheral Type
Nf1 - [neurofibromatosis Type 1]
Recklinghausen Disease, Nerve
Von Recklinghausen Neuropathy
Von Recklinghausen Syndrome
Recklinghausen Disease
Nonmosaic Nf1
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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
神经纤维瘤病1型,又称维伦克林根豪森病,与神经纤维瘤和莱利斯综合症有关,症状包括神经痛。与神经纤维瘤病1型有关的重要基因是NF1(神经纤维蛋白1),其相关通路/超级通路包括信号转导和神经科学。在该疾病的背景下提到了多巴胺和甲基苯丙胺。附属组织包括皮肤和骨骼,相关表型为眼距增宽和青春期延迟。
Related ID:
MALACARDS:NRF024
OMIM:162200
MESH:D009456
ICD11:337970533
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
1-5/10000
55
1065
847
NRF024
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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