Details of Disease

General Information of Disease (ID: DIS5792K)

Disease Name Chilblain lupus
Synonyms CHLE; Hutchinson lupus
Definition
A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.|Editor note: ORDO classifies as genetic and has a separate subclass for familiar form
Disease Hierarchy
DIS2QILP: Chronic cutaneous lupus erythematosus
DIS2TMQU: Skin vascular disease
DISODLFK: Autoimmune disorder of cardiovascular system
DIS5792K: Chilblain lupus
Disease Identifiers
MONDO ID
MONDO_0019557
UMLS CUI
C4551515
MedGen ID
1632142
Orphanet ID
90280
SNOMED CT ID
238928005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TREX1 OTQG7K12 Limited Genetic Variation [1]
SAMHD1 OTBCIBC7 Disputed Autosomal dominant [2]
GZMA OT43R33L Strong Biomarker [3]
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References

1 Aicardi-Goutires syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.Nucleic Acids Res. 2017 May 5;45(8):4619-4631. doi: 10.1093/nar/gkx178.
2 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011 Jan;155A(1):235-7. doi: 10.1002/ajmg.a.33778.
3 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.J Mol Med (Berl). 2007 May;85(5):531-7. doi: 10.1007/s00109-007-0199-9. Epub 2007 Apr 18.