Preferred Label : Chilblain lupus 1;
Symbol : CHBL1;
CISMeF acronym : CHBL1;
Type : Phenotype, molecular basis known;
Description : 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).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the 3-prime repair exonuclease-1 gene (TREX1, 606609.0005);
Prefixed ID : #610448;
Origin ID : 610448;
UMLS CUI : C0024145;
DO Cross reference
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT