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GTR Home > Conditions/Phenotypes > Systemic lupus erythematosus

Systemic lupus erythematosus

Summary

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE. [from OMIM]

Available tests

70 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (70 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12, CTLA4
    Summary: cytotoxic T-lymphocyte associated protein 4

  • Also known as: DNL1, DRNI, DNASE1
    Summary: deoxyribonuclease 1

  • Also known as: CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1, FcGR, FcgammaRIIa, IGFR2, FCGR2A
    Summary: Fc gamma receptor IIa

  • Also known as: CD32, CD32B, FCG2, FCGR2, FCGR2C, FcGRIIB, FcRII-c, FcgammaRIIb, IGFR2, FCGR2B
    Summary: Fc gamma receptor IIb

  • Also known as: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8, PTPN22
    Summary: protein tyrosine phosphatase non-receptor type 22

  • Also known as: AGS1, CRV, DRN3, HERNS, RVCLS, TREX1
    Summary: three prime repair exonuclease 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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