Systemic Lupus Erythematosus 16 (SLEB16)

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OMIM 58 614420 MeSH 45 D008180 ICD10 via Orphanet 35 M32.8 Orphanet 60 ORPHA300345

MedGen 43 C3280742 SNOMED-CT via HPO 70 258211005 52845002 55464009 UMLS 74 C3280742

UniProtKB/Swiss-Prot : ⁷⁶ Systemic lupus erythematosus 16: A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

MalaCards based summary : Systemic Lupus Erythematosus 16, also known as sleb16, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Systemic Lupus Erythematosus 16 is DNASE1L3 (Deoxyribonuclease 1 Like 3), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include bone, neutrophil and skin, and related phenotypes are systemic lupus erythematosus and nephritis

Description from OMIM: 614420

Clinical features from OMIM:

614420

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 16

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 16.