Cloacal Exstrophy

Cloacal Exstrophy(来自ICD-11)
别称:
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
Oeis Complex
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Cloacal Exstrophy, also known as omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and bladder exstrophy. An important gene associated with Cloacal Exstrophy is GKAP1 (G Kinase Anchoring Protein 1), and among its related pathways/superpathways are Metabolism of steroids and Metabolism of steroid hormones. Affiliated tissues include kidney and uterus, and related phenotypes are vesicoureteral reflux and hypoplasia of penis
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相关ID:
ICD11:2004612103

基础信息

遗传方式
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患病率/发病率
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参考文献
MALACARDS
--
Newborn
1-9/1000000
15
140
--

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靶点药物

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MGI
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