Chilblain lupus

Summary
Definition
A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
Super Class
cutaneous lupus erythematosus
Disease Ontology
DOID:0060386
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
25939 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000992 Cutaneous photosensitivity
HP:0009710 Chilblains
HP:0000006 Autosomal dominant inheritance
HP:0011463 Childhood onset
HP:0003593 Infantile onset
Displaying 1 entry
Gene ID Gene Symbol Description
25939 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

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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