erythrokeratodermia variabilis et progressiva 4

Summary
Definition
An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
Super Class
autosomal recessive disease erythrokeratodermia variabilis
External Links
Disease Ontology
DOID:0080250
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2531 KDSR 3-ketodihydrosphingosine reductase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q06136 3-ketodihydrosphingosine reductase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0001595 Abnormal hair morphology
HP:0000958 Dry skin
HP:0007957 Corneal opacity
HP:0000411 Protruding ear
HP:0002230 Generalized hirsutism
HP:0012733 Macule
HP:0001034 Hypermelanotic macule
HP:0000252 Microcephaly
HP:0001182 Tapered finger
HP:0005588 Patchy palmoplantar hyperkeratosis
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: August 19, 2024