Pulmonic Stenosis

Pulmonic Stenosis(来自ICD-11)
别称:
Congenital Stenosis of Pulmonary Valve
Congenital Pulmonary Valvar Stenosis
Congenital Pulmonary Valve Stricture
Congenital Pulmonary Valve Stenosis
Pulmonary Valve Stenosis
Pulmonary Stenosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pulmonic Stenosis, also known as congenital stenosis of pulmonary valve, is related to cardiofaciocutaneous syndrome 1 and costello syndrome. An important gene associated with Pulmonic Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Infectious disease and ERK Signaling. The drugs Pharmaceutical Solutions and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related phenotypes are laryngeal stenosis and atrial septal defect
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
Newborn
6-9/10000
16
227
6

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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MGI
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