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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
Holoprosencephaly 7 (HPE7)
Alias:
Hpe7
Holoprosencephaly-7
Holoprosencephaly, Type 7
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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
全前脑7,也称为hpe7,与基底细胞癌、多发性过度生长综合症有关,症状包括癫痫发作。与全前脑7有关的重要基因是PTCH1(Patched 1),其相关通路/超级通路包括 Hedgehog 信号传导和Kainate受体的前突触功能。附属组织包括大脑,相关表型为鼻尖抑郁和巨鼻。
Related ID:
MALACARDS:HLP027
OMIM:610828
MESH:C563660
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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11
122
7
HLP027
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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