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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal, is also known as palmoplantar hyperkeratosis and true hermaphroditism. An important gene associated with Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal is RSPO1 (R-Spondin 1). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and squamous cell carcinoma of the skin
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
6
9

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
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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