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erythrokeratodermia variabilis et progressiva 6
Summary
- Definition
- An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
- Super Class
- autosomal dominant disease erythrokeratodermia variabilis
External Links
- Disease Ontology
- DOID:0080766
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TD43 | Transient receptor potential cation channel subfamily M member 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010783 | Erythema |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0200035 | Skin plaque |
