erythrokeratodermia variabilis et progressiva 1

Summary
Definition
An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
Super Class
autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis
External Links
Disease Ontology
DOID:0111195
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2531 KDSR 3-ketodihydrosphingosine reductase
6785 ELOVL4 ELOVL fatty acid elongase 4
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0200035 Skin plaque
HP:0000958 Dry skin
HP:0007400 Irregular hyperpigmentation
HP:0000411 Protruding ear
HP:0001824 Weight loss
HP:0010783 Erythema
HP:0000992 Cutaneous photosensitivity
HP:0000252 Microcephaly
HP:0001596 Alopecia
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