Supranuclear Palsy, Progressive, 1 (PSNP1)

Alias:
Progressive Supranuclear Palsy
Progressive Supranuclear Ophthalmoplegia
Steele-Richardson-Olszewski Syndrome
Supranuclear Palsy, Progressive
Psp
Psp Syndrome
Psnp1
Ophthalmoplegia, Supranuclear, Progressive
Familial Progressive Supranuclear Palsy
Steele-Richardson-Olszewksi Syndrome
Progressive Supranuclear Palsy 1
Supranuclear Palsy Progressive
Richardson's Syndrome
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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
上核性帕金森病1型,又称进行性上核性帕金森病,与佩里综合症和吸入性肺炎有关,症状包括背痛、头痛和肌肉僵硬。与上核性帕金森病1型相关的基因是MAPT(微管相关蛋白tau),其相关通路/超级通路包括阿尔茨海默病、miRNA效应和神经科学。在该疾病的背景下,已提到的药物有唑来膦酸和苯佐卡因。相关组织包括眼和脑,相关表型为吞咽困难和步态不稳。
Related ID:
MESH:D013494
ICD11:1493396558

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
1-9/100000
59
893
41

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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