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
Disease Ontology
DOID:0080766
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54795 TRPM4 transient receptor potential cation channel subfamily M member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
68667 Trpm4 transient receptor potential cation channel, subfamily M, member 4
The Human Phenotype Ontology
Displaying all 3 entries
HPO ID HPO Term
HP:0010783 Erythema
HP:0000982 Palmoplantar keratoderma
HP:0200035 Skin plaque
Displaying 1 entry
Gene ID Gene Symbol Description
2531 KDSR 3-ketodihydrosphingosine reductase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024