Visceral Heterotaxy (HTX)

Visceral Heterotaxy(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Visceral Heterotaxy, also known as heterotaxia, is related to situs inversus and right atrial isomerism. An important gene associated with Visceral Heterotaxy is PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are Mesodermal commitment pathway and Signaling by NODAL. Affiliated tissues include heart and spleen, and related phenotypes are growth/size/body region and nervous system
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相关ID:
ICD11:1234712569

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
XLD
AD
AR
XL
Antenatal
1-5/10000
151
965
2

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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名称
MGI
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文献报道

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