Palmoplantar Keratoderma and Congenital Alopecia 2 (PPKCA2)

Alias:
Cataract-Alopecia-Sclerodactyly Syndrome
Autosomal Recessive Palmoplantar Hyperkeratosis and Congenital Alopecia
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia
Palmoplantar Keratoderma and Congenital Alopecia, Wallis Type
Ppk-Ca, Wallis Type
Cataract, Alopecia, Sclerodactyly
Ppkca2
Cass
Ppkca, Wallis Type
Ppkca Wallis Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to palmoplantar keratoderma and congenital alopecia 1 and lipoprotein quantitative trait locus, and has symptoms including dry skin An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 2 is LSS (Lanosterol Synthase). Affiliated tissues include skin and eye, and related phenotypes are cataract and joint stiffness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
10
70
3

Medical Symptom

#
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

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
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