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GTR Home > Conditions/Phenotypes > Epidermolysis bullosa simplex due to plakophilin deficiency

Epidermolysis bullosa simplex due to plakophilin deficiency

Synonyms
DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome; Ectodermal Dysplasia/Skin Fragility Syndrome; Ectodermal dysplasia skin fragility syndrome; Mcgrath syndrome; PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hypohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B6P, EDSFS, PKP1
    Summary: plakophilin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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