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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
Hutchinson-Gilford Progeria Syndrome (HGPS)
Alias:
Progeria
Hgps
Hutchinson-Gilford Syndrome
Hutchinson-Gilford Progeria
Hutchinson-Gilford-Progeria Syndrome
Hutchinson Gilford Syndrome
Hutchinson-Gilford Disease
Progeria of Childhood
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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
哈金森-吉尔福德早老症,也被称为早老症,与早老症和衰老有关。与哈金森-吉尔福德早老症相关的基因是LMNA(Lamin A/C),与其相关的途径/超级途径包括基因表达(转录)和传染病。在该疾病的背景下提到了唑来膦酸和普伐他汀。附属组织包括皮肤和骨骼,相关表型为皮肤的普遍异常和小颌症。
Related ID:
MALACARDS:HTC003
OMIM:176670
MESH:D011371
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
<1/1000000
54
635
73
HTC003
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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