Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)

Alias:
Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia
Autosomal Dominant Palmoplantar Hyperkeratosis and Congenital Alopecia
Palmoplantar Keratoderma and Congenital Alopecia, Stevanovic Type
Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome
Ppk-Ca, Stevanovic Type
Ppkca1
Ppkca, Stevanovic Type
Keratoderma, Palmoplantar, with Congenital Alopecia, Type 1
Palmoplantar Keratoderma with Congenital Alopecia
Alopecia Congenita Keratosis Palmoplantaris
Ppkca Stevanovic Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma and Congenital Alopecia 1, also known as autosomal dominant palmoplantar keratoderma and congenital alopecia, is related to palmoplantar keratoderma and congenital alopecia 2 and nail disorder, nonsyndromic congenital, 3. An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 1 is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. Affiliated tissues include skin, and related phenotypes are abnormality of the nail and palmoplantar keratoderma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
16
145
5

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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