Chilblain Lupus 1 (CHBL1)

Alias:

Chilblain Lupus

Chilblain Lupus Erythematosus

Chbl1

Chilblain Lupus, Type 1

Hutchinson Lupus

Chle

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chilblain Lupus 1, also known as chilblain lupus, is related to familial chilblain lupus and singleton-merten dysplasia. An important gene associated with Chilblain Lupus 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include skin and lymph node, and related phenotypes are hyperkeratosis and skin ulcer

Related ID：

MALACARDS：CHL140

OMIM：610448

MESH：C535924