Ectodermal Dysplasia/skin Fragility Syndrome (EDSFS)

Alias:
Mcgrath Syndrome
Ectodermal Dysplasia-Skin Fragility Syndrome
Edsfs
Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency
Dysplasia, Ectodermal, Skin Fragility Syndrome
Ectodermal Dysplasia/ Skin Fragility Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia/skin Fragility Syndrome, also known as mcgrath syndrome, is related to ectodermal dysplasia and palmoplantar keratosis. An important gene associated with Ectodermal Dysplasia/skin Fragility Syndrome is PKP1 (Plakophilin 1). Affiliated tissues include skin and tongue, and related phenotypes are palmoplantar keratoderma and nail dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
1
4
7

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
No data available

References Literature

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