Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 (FNEPPK1)

Alias:
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
Focal Nonepidermolytic Palmoplantar Keratoderma
Fneppk1
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas
Palmoplantar Keratoderma, Nonepidermolytic, Focal
Keratoderma, Focal Nonepidermolytic Palmoplantar
Ppkfne
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1
Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Focal Nonepidermolytic Palmoplantar Keratoderma 1
Fneppk
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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,非剥脱性,局灶性1,也称为孤立性局灶性非剥脱性掌跖角化病,与掌跖角化病,非剥脱性,局灶性或弥漫性以及掌跖角化病有关。与掌跖角化病,非剥脱性,局灶性1有关的重要基因是KRT16(角蛋白16),其相关通路/超级通路包括神经系统发育和COPI独立的高尔基体至内质网逆行交通。附属组织包括皮肤,相关表型为掌跖角化病和毛囊增生。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
13
73
6

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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