Mal De Meleda (MDM)

Mal De Meleda(来自ICD-11)
别称:
Meleda Disease
Keratosis Palmoplantaris Transgrediens of Siemens
Transgrediens Palmoplantar Keratoderma of Siemens
Acroerythrokeratoderma
Mdm
Keratosis Palmoplantaris Transgradiens of Siemens
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mal De Meleda, also known as meleda disease, is related to palmoplantar keratosis and palmoplantar keratoderma, nagashima type. An important gene associated with Mal De Meleda is SLURP1 (Secreted LY6/PLAUR Domain Containing 1), and among its related pathways/superpathways are Post-translational modification: synthesis of GPI-anchored proteins and Burn wound healing. Affiliated tissues include skin and heart, and related phenotypes are palmoplantar keratoderma and abnormality of the hand
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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
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参考文献
MALACARDS
AR
Newborn
1-9/100000
13
56
20

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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MGI
相关基因
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