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 11 - 20 of 33 in total
HPO ID HPO Term
HP:0000518 Cataract
HP:0008069 Neoplasm of the skin
HP:0000988 Skin rash
HP:0001597 Abnormality of the nail
HP:0000035 Abnormal testis morphology
HP:0001249 Intellectual disability
HP:0007400 Irregular hyperpigmentation
HP:0000819 Diabetes mellitus
HP:0010783 Erythema
HP:0000992 Cutaneous photosensitivity
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