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GTR Home > Conditions/Phenotypes > Chilblain lupus 1

Chilblain lupus 1

Summary

Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively). [from OMIM]

Available tests

37 tests are in the database for this condition.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGS1, CRV, DRN3, HERNS, RVCLS, TREX1
    Summary: three prime repair exonuclease 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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