chilblain lupus 1
MONDO:0012500Mondo
Findings
No curated finding names chilblain lupus 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012500), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Antinuclear antibody positivityHPOHP:0003493
- 2 of 2 reported patients
- ArthralgiaHPOHP:0002829
- 3 of 3 reported patients
- ChilblainsHPOHP:0009710
- 3 of 3 reported patients
- Skin ulcerHPOHP:0200042
- 3 of 3 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 2 reported patients
- Autoamputation of digitsHPOHP:0007460
- 1 of 3 reported patients
- Cutaneous photosensitivityHPOHP:0000992
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TREX1HGNC:12269
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: chilblain lupus 1
- Also called
- chilblain lupus caused by mutation in TREX1chilblain lupus type 1TREX1 chilblain lupus