Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)

点状掌跖角化病IA型(来自ICD-11)

别称:

Keratosis Palmoplantaris Papulosa

Ppkp1

Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

Punctate Palmoplantar Keratoderma Type I

Punctate Palmoplantar Keratoderma Type 1

Palmoplantar Keratoderma, Punctate Type 1a

Buschke-Fischer-Brauer Syndrome

Ppkp1a

Kppp1

Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

Keratoderma, Palmoplantar, Punctate, Type Ia

Keratoderma, Palmoplantar, Punctate Type Ia

Keratoderma, Palmoplantar, Punctate Type 1

Palmoplantar Keratoderma, Punctate Type I

Punctate Palmoplantar Keratoderma Type 1a

Punctate Palmoplantar Keratoderma Type 1b

Punctate Palmoplantar Keratoderma Type Ia

Keratoderma, Palmoplantar, Punctate 1a

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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，点状型IA，又称掌跖角化病，是一种与点状掌跖角化病和掌跖角化病相关的疾病。与掌跖角化病，点状型IA相关的基因是AAGAB（Alpha And Gamma Adaptin Binding Protein）。在该疾病的背景下，已经提到了过氧化氢和天冬氨酸。附属组织包括皮肤和小肠，相关表型为点状掌跖角化病和掌跖角化病。

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