Palmoplantar Keratoderma and Woolly Hair (PPKWH)

Alias:
Ppkwh
Woolly Hair-Palmoplantar Hyperkeratosis Syndrome
Woolly Hair-Palmoplantar Keratoderma Syndrome
Wooly Hair-Palmoplantar Keratoderma Syndrome
Keratoderma, Palmoplantar, and Woolly Hair
Keratoderma with Woolly Hair Type Iv
Kwwh Type Iv
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
掌跖角化病和卷发,也称为ppkwh,与心律失常性右心室发育不良,家族性,11和皮肤脆弱性-卷发-掌跖角化病综合征有关。与掌跖角化病和卷发有关的重要基因是KANK2(KN结构域和ankyrin重复域2)。附属组织包括皮肤和心脏,相关表型为掌跖角化病和稀疏的头皮毛发
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
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1
4
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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