Details of Disease

General Information of Disease (ID: DISEBS1O)

Disease Name Chilblain lupus 1
Synonyms CHBL1; chilblain lupus; chilblain lupus 1; chilblain lupus caused by mutation in TREX1; TREX1 chilblain lupus; chilblain lupus type 1
Definition Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.
Disease Hierarchy
DISCVVSA: TREX1-related type 1 interferonopathy
DIS5792K: Chilblain lupus
DISOSPDL: Familial chilblain lupus
DISEBS1O: Chilblain lupus 1
Disease Identifiers
MONDO ID
MONDO_0012500
MESH ID
C535924
UMLS CUI
C0024145
OMIM ID
610448
MedGen ID
9822

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATRIP OT78O9LF Strong CausalMutation [1]
GZMA OT43R33L Strong Biomarker [2]
SAMHD1 OTBCIBC7 Strong Biomarker [3]
STING1 OTDAP4G0 Strong Genetic Variation [3]
TREX1 OTQG7K12 Strong Autosomal dominant [4]
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References

1 Inflammatory myopathy in a patient with Aicardi-Goutires syndrome.Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9.
2 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.
3 Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2017 Feb;76(2):468-472. doi: 10.1136/annrheumdis-2016-209841. Epub 2016 Aug 26.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.