Systemic lupus erythematosus

Preferred Label : Systemic lupus erythematosus;

Symbol : SLE;

CISMeF acronym : SLE;

Type : Phenotype, molecular basis known;

Included titles and symbols : Excess lymphocyte low molecular weight dna; Excess lmw-dna;

Description : Systemic lupus erythematosus (SLE), a chronic, remitting, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, acute or insidious at onset, is characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Lupus erythematosus is thought to represent a failure of the regulatory mechanisms of the autoimmune system. - Genetic Heterogeneity of Systemic Lupus Erythematosus See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE. An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility to SLE caused by mutation in the receptor for Fc fragment of IgG, low affinity IIa gene (FCGR2A, 146790.0001); Susceptibility to SLE caused by mutation in the tumor necrosis factor ligand superfamily, member 6 gene (TNFSF6, 134638.0001);

Laboratory abnormalities : Antiphospholipid antibody; Anti dsDNA antibody; Serum antinuclear antibody;

Prefixed ID : #152700;

Details

Origin ID

152700;

UMLS CUI

C0024141;

Automatic exact mappings (from CISMeF team)
- Lambert-Eaton syndrome [ICD-11 Category]
- Sierra Leone [NCIt concept]
- Systematic Light Exposure [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
- lupus [MedlinePlus Topic]
Currated CISMeF NLP mapping
- DISSEMINATED LUPUS ERYTHEMATOSUS [WHO-ART Included Term]
- Lupus erythematosus systemic [MedDRA LLT]
- SLE [MedDRA LLT]
- Systemic Lupus Erythematosus [NCIt concept]
- Systemic lupus erythematosis [MedDRA LLT]
- Systemic lupus erythematosus [PASCAL descriptor]
- Systemic lupus erythematosus [ICD-11 Subcategory]
- Systemic lupus erythematosus [ICD-9 code]
- Systemic lupus erythematosus [ICD-10 category (who)]
- Systemic lupus erythematosus [HPO term]
- Systemic lupus erythematosus [MedDRA Preferred Term]
- Systemic lupus erythematosus [ORDO Disease]
- Systemic lupus erythematosus (SLE) [ICD-10 category]
- Systemic lupus erythematosus (disorder) [SNOMED CT concept]
- lupus erythematosus, systemic [MeSH Descriptor]
- lupus erythematosus, systemic [MeSH concept]
- systemic lupus erythematosus [DO Concept]
- systemic lupus erythematosus [Disease (Nov.)]
- systemic lupus erythematosus [Blood Transfusion thesaurus concept]
- systemic lupus erythematosus [SNOMED Notion]
DO Cross reference
- systemic lupus erythematosus [DO Concept]
Genes related to phenotype
- 3-prime repair exonuclease 1 [OMIM gene]
- Cytotoxic t lymphocyte-associated 4 [OMIM gene]
- Deoxyribonuclease I [OMIM gene]
- Fc fragment of igg receptor iib [OMIM gene]
- Fc gamma receptor iia [OMIM gene]
- Protein tyrosine phosphatase, nonreceptor-type, 22 [OMIM gene]
HPO term(s)
- Antinuclear antibody positivity [HPO term]
- Antiphospholipid antibody positivity [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Hemolytic anemia [HPO term]
- Leukopenia [HPO term]
- Lupus nephritis [HPO term]
- Malar rash [HPO term]
- Nephritis [HPO term]
- Pericarditis [HPO term]
- Pleuritis [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Systemic lupus erythematosus [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DISSEMINATED LUPUS ERYTHEMATOSUS [WHO-ART Included Term]
- Disseminated lupus erythematosus [MedDRA LLT]
- LE SYNDROME [WHO-ART High Level Term]
- LE syndrome [MedDRA LLT]
- LE systemic [MedDRA LLT]
- Lupus erythematosis disseminated [MedDRA LLT]
- Lupus erythematosus systemic [MedDRA LLT]
- Lupus syndrome [MedDRA LLT]
- SLE [MedDRA LLT]
- Syndrome disseminated lupus erythematosis [MedDRA LLT]
- Syndrome lupus [MedDRA LLT]
- Systemic Lupus Erythematosus [NCIt concept]
- Systemic lupus erythematosis [MedDRA LLT]
- Systemic lupus erythematosus [ICD-10 category (who)]
- Systemic lupus erythematosus [MedDRA Preferred Term]
- Systemic lupus erythematosus [ICD-9 code]
- Systemic lupus erythematosus [ORDO Disease]
- Systemic lupus erythematosus [HPO term]
- Systemic lupus erythematosus [PASCAL descriptor]
- Systemic lupus erythematosus [ICD-11 Subcategory]
- Systemic lupus erythematosus (SLE) [ICD-10 category]
- Systemic lupus erythematosus (disorder) [SNOMED CT concept]
- Systemic lupus erythematosus synd [MedDRA LLT]
- Systemic lupus erythematosus, unspecified [ICD-10 Sub-category (who)]
- Systemic lupus erythematosus, unspecified [ICD-10 Sub-category]
- lupus erythematosus, systemic [MeSH Descriptor]
- lupus erythematosus, systemic [MeSH concept]
- systemic lupus erythematosus [SNOMED Notion]
- systemic lupus erythematosus [DO Concept]
- systemic lupus erythematosus [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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