Details of Disease

General Information of Disease (ID: DIS5R8J9)

Disease Name Chilblain lupus 2
Synonyms CHBL2; chilblain lupus 2; chilblain lupus caused by mutation in SAMHD1; SAMHD1 chilblain lupus; Chilblain lupus type 2
Definition Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.
Disease Hierarchy
DISXXEWT: SAMHD1-related type 1 interferonopathy
DIS5792K: Chilblain lupus
DISOSPDL: Familial chilblain lupus
DIS5R8J9: Chilblain lupus 2
Disease Identifiers
MONDO ID
MONDO_0013739
UMLS CUI
C3280721
OMIM ID
614415
MedGen ID
482351

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SAMHD1 OTBCIBC7 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.