Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma (DCWHK)

Alias:
Carvajal Syndrome
Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair
Dcwhk
Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome
Dilated Cardiomyopathy with Woolly Hair and Keratoderma
Cardiomyopathy Dilated with Woolly Hair and Keratoderma
Keratoderma with Woolly Hair Type Ii
Kwwh Type Ii
Arrhythmogenic Cardiomyopathy with Wooly Hair and Keratoderma
Cardiomyopathy, Dilated with Woolly Hair and Keratoderma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma, also known as carvajal syndrome, is related to keratosis and epidermolysis bullosa, and has symptoms including clubbing of nail An important gene associated with Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma is DSP (Desmoplakin), and among its related pathways/superpathways are Nervous system development and Programmed Cell Death. Affiliated tissues include skin and heart, and related phenotypes are dilated cardiomyopathy and woolly hair
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
21
285
92

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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