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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
Visceral Heterotaxy (HTX)
Alias:
Heterotaxia
Heterotaxy Syndrome
Situs Ambiguus
Heterotaxy
Lateralization Defect
Left Isomerism
Incomplete Situs Inversus
Bilateral Left-Sidedness
Situs Ambiguus Viscerum
Partial Situs Inversus
Heterotaxy, Visceral
Polysplenia Syndrome
Asplenia Syndrome
Ivemark Syndrome
Right Isomerism
Situs Ambiguous
Moller Syndrome
Htx
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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
内脏异位性,也称为异位性,与反位和右心房异位性有关。与内脏异位性相关的基因是PKD1L1(多囊蛋白1样1,瞬时受体电位通道相互作用),其相关通路/超级通路包括中胚层承诺通路和NODAL信号通路。相关组织包括心脏和脾脏,相关表型包括生长/大小/身体区域和神经系统。
Related ID:
MALACARDS:VSC013
ICD11:1234712569
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
胎儿期
1-5/10000
151
965
2
VSC013
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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