Details of Disease | DrugMAP

General Information of Disease (ID: DISOSPDL)

Disease Name	Familial chilblain lupus
Synonyms	hereditary chilblain lupus; hereditary Chilblain lupus
Definition	An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.
Disease Hierarchy	DISKP5TO: Type 1 interferonopathy of childhood DIS5792K: Chilblain lupus DIS8I9FS: Hereditary disorder of connective tissue DISSCALK: Hereditary skin disorder DISOSPDL: Familial chilblain lupus
Disease Identifiers	MONDO ID MONDO_0018827 UMLS CUI C5688224 MedGen ID 1807766 Orphanet ID 481662 SNOMED CT ID 1220590003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STING1	TTT402Y	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMHD1	OTBCIBC7	Supportive	Autosomal dominant	[1]
STING1	OTDAP4G0	Supportive	Autosomal dominant	[1]
TREX1	OTQG7K12	Supportive	Autosomal dominant	[1]
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References

1	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.