Ichthyosis with Confetti (IWC)

Ichthyosis with Confetti(来自ICD-11)
别称:
Congenital Reticular Ichthyosiform Erythroderma
Crie
Iwc
Erythroderma, Ichthyosiform, Congenital Reticular
Ichthyosis Variegata
Erythrokeratoderma, Reticular
Ichthyosis Variegata Micropinnae, Alopecia Universalis, Congenital Ichthyosis, and Ectropion
Reticular Erythrokeratoderma
Mauie Syndrome
Aarau Disease
Mauie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis with Confetti, also known as congenital reticular ichthyosiform erythroderma, is related to ichthyosis and palmoplantar keratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin and breast, and related phenotypes are short stature and ichthyosis
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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
AD
Newborn
<1/1000000
2
9
18

疾病表征

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表征
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基因 & 突变

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靶点药物

药物名称
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临床阶段
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疾病模型

类型
名称
MGI
相关基因
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文献数量
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文献报道

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