Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal (PKKSCC)

Alias:
Palmoplantar Hyperkeratosis and True Hermaphroditism
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition to Squamous Cell Carcinoma Syndrome
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Palmoplantar Hyperkeratosis-Xx Sex Reversal-Predisposition to Squamous Cell Carcinoma Syndrome
Hyperkeratosis, Palmoplantar, with Squamous Cell Carcinoma of Skin and 46xx Sex Reversal
Keratoderma, Palmoplantar, with Squamous Cell Carcinoma of Skin and Sex Reversal
Pkkscc
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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
掌跖角化病伴皮肤鳞状细胞癌和46,xx性别反转,也称为掌跖角化病和真正的两性畸形。与掌跖角化病伴皮肤鳞状细胞癌和46,xx性别反转有关的重要基因是RSPO1(R-脊柱蛋白1)。相关组织包括皮肤,相关表型为掌跖角化病和皮肤鳞状细胞癌。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
1
6
9

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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