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GTR Home > Conditions/Phenotypes > Erythrokeratodermia variabilis et progressiva 3

Erythrokeratodermia variabilis et progressiva 3

Summary

Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA, GJA1
    Summary: gap junction protein alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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