ORPHA:536
Systemic lupus erythematosus
Synonyms: Disseminated lupus erythematosus · SLE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic lupus erythematosus | Disseminated lupus erythematosus · SLE |
| fr | Lupus érythémateux systémique | LEAD · LES · Lupus systémique · Lupus érythémateux aigu disséminé · Lupus érythémateux disséminé · SLE |
| de | Lupus erythematodes, systemischer | Lupus erythematodes, disseminierter · SLE |
| es | Lupus eritematoso sistémico | Lupus eritematoso diseminado · SLE |
| it | Lupus eritematoso sistemico | LES · Lupus eritematoso disseminato |
| nl | Systemische lupus erythematosus | Gedissemineerde lupus erythematosus · SLE |
| pt | Lúpus eritematoso sistémico | LED · LES |
| pl | Toczeń rumieniowaty układowy | SLE · Toczeń rumieniowaty postać rozsiana |
| cs | Systémový lupus erythematodes | = en |
| uk | Системний червоний вовчак | Дисемінований червоний вовчак · SLE |
| zh | 系统性红斑狼疮 | 播散性红斑狼疮 |
| tr | Sistemik lupus eritematoz | SLE · Dissemine lupus eritematozus |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301080 | BTNT | validated | |
| OMIM | 614420 | BTNT | validated | |
| ICD-10 | M32.0 | BTNT | specific | validated |
| ICD-10 | M32.1 | BTNT | specific | validated |
| ICD-10 | M32.8 | BTNT | specific | validated |
| ICD-10 | M32.9 | BTNT | specific | validated |
| ICD-11 | 4A40.0 | E | specific | validated |
| MONDO | 0007915 | E | validated | |
| MeSH | D008180 | E | validated | |
| UMLS | C0024141 | E | validated | |
| MedDRA | 10042945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders - ORPHA:93573Thrombotic microangiopathy
rare renal diseases
No children.
4
Genes
30 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TLR7 | Disease-causing germline mutation(s) in | Assessed | HGNC:15631 | ENSG00000196664 | 300365 | Xp22.2 | toll like receptor 7 | 35477763[PMID] |
| BANK1 | Major susceptibility factor in | Assessed | HGNC:18233 | ENSG00000153064 | 610292 | 4q24 | B cell scaffold protein with ankyrin repeats 1 | 22039224[PMID]_21978998[PMID]_21900951[PMID] |
| BLK | Major susceptibility factor in | Assessed | HGNC:1057 | ENSG00000136573 | 191305 | 8p23.1 | BLK proto-oncogene, Src family tyrosine kinase | 22696686[PMID]_22654485[PMID]_24091983[PMID] |
| C4A | Major susceptibility factor in | Assessed | HGNC:1323 | ENSG00000244731 | 120810 | 6p21.33 | complement C4A (Chido/Rodgers blood group) | 22654485[PMID]_23914156[PMID]_10092831[PMID]_17503323[PMID]_15998580[PMID]_12133986[PMID] |
| C4B | Major susceptibility factor in | Assessed | HGNC:1324 | ENSG00000224389 | 120820 | 6p21.33 | complement C4B (Chido/Rodgers blood group) | 3265961[PMID]_22654485[PMID]_23914156[PMID]_10092831[PMID]_17503323[PMID]_15998580[PMID]_12133986[PMID] |
| CR2 | Major susceptibility factor in | Assessed | HGNC:2336 | ENSG00000117322 | 120650 | 1q32.2 | complement C3d receptor 2 | 17360460[PMID]_22673213[PMID] |
| CTLA4 | Major susceptibility factor in | Assessed | HGNC:2505 | ENSG00000163599 | 123890 | 2q33.2 | cytotoxic T-lymphocyte associated protein 4 | 23922195[PMID] |
| DNASE1 | Major susceptibility factor in | Assessed | HGNC:2956 | ENSG00000213918 | 125505 | 16p13.3 | deoxyribonuclease 1 | 11479590[PMID] |
| ETS1 | Major susceptibility factor in | Assessed | HGNC:3488 | ENSG00000134954 | 164720 | 11q24.3 | ETS proto-oncogene 1, transcription factor | 23236436[PMID]_22087647[PMID] |
| FCGR2B | Major susceptibility factor in | Assessed | HGNC:3618 | ENSG00000072694 | 604590 | 1q23.3 | Fc fragment of IgG receptor IIb | 23943494[PMID]_12115230[PMID]_20385827[PMID] |
| FCGR3B | Major susceptibility factor in | Assessed | HGNC:3620 | ENSG00000162747 | 610665 | 1q23.3 | Fc fragment of IgG receptor IIIb | 23917156[PMID]_21296850[PMID]_20442749[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 22654485[PMID]_19838195[PMID]_23917156[PMID]_23407388[PMID]_22893315[PMID]_23793423[PMID]_21695597[PMID] |
| IL10 | Major susceptibility factor in | Assessed | HGNC:5962 | ENSG00000136634 | 124092 | 1q32.1 | interleukin 10 | 23936042[PMID]_22654485[PMID]_19838195[PMID]_20576226[PMID] |
| IRAK1 | Major susceptibility factor in | Assessed | HGNC:6112 | ENSG00000184216 | 300283 | Xq28 | interleukin 1 receptor associated kinase 1 | 23435933[PMID]_22904263[PMID]_18050247[PMID]_19440199[PMID]_22654485[PMID]_23943494[PMID] |
| IRF5 | Major susceptibility factor in | Assessed | HGNC:6120 | ENSG00000128604 | 607218 | 7q32.1 | interferon regulatory factor 5 | 15657875[PMID]_23943494[PMID]_23917156[PMID]_22654485[PMID] |
| ITGAM | Major susceptibility factor in | Assessed | HGNC:6149 | ENSG00000169896 | 120980 | 16p11.2 | integrin subunit alpha M | 19286673[PMID]_23917156[PMID]_23943494[PMID] |
| JAZF1 | Major susceptibility factor in | Assessed | HGNC:28917 | ENSG00000153814 | 606246 | 7p15.2-p15.1 | JAZF zinc finger 1 | 19838195[PMID] |
| KIAA0319L | Major susceptibility factor in | Assessed | HGNC:30071 | ENSG00000142687 | 613535 | 1p34.3 | KIAA0319 like | 23740937[PMID] |
| MECP2 | Major susceptibility factor in | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 23857988[PMID]_23428850[PMID]_22904263[PMID]_19440199[PMID]_22654485[PMID] |
| PDCD1 | Major susceptibility factor in | Assessed | HGNC:8760 | ENSG00000188389 | 600244 | 2q37.3 | programmed cell death 1 | 12402038[PMID] |
| PTPN22 | Major susceptibility factor in | Assessed | HGNC:9652 | ENSG00000134242 | 600716 | 1p13.2 | protein tyrosine phosphatase non-receptor type 22 | 15273934[PMID]_19838195[PMID]_23966601[PMID]_23950893[PMID]_23943494[PMID]_22654485[PMID] |
| PXK | Major susceptibility factor in | Assessed | HGNC:23326 | ENSG00000168297 | 611450 | 3p14.3 | PX domain containing serine/threonine kinase like | 22592861[PMID] |
| SPP1 | Major susceptibility factor in | Assessed | HGNC:11255 | ENSG00000118785 | 166490 | 4q22.1 | secreted phosphoprotein 1 | 19440199[PMID]_11933203[PMID]_24023622[PMID]_18335026[PMID]_15692970[PMID] |
| STAT4 | Major susceptibility factor in | Assessed | HGNC:11365 | ENSG00000138378 | 600558 | 2q32.2-q32.3 | signal transducer and activator of transcription 4 | 17804842[PMID]_23943494[PMID]_22654485[PMID] |
| TNFAIP3 | Major susceptibility factor in | Assessed | HGNC:11896 | ENSG00000118503 | 191163 | 6q23.3 | TNF alpha induced protein 3 | 23943494[PMID]_21336280[PMID]_20617138[PMID]_24039598[PMID]_24091983[PMID]_22654485[PMID] |
| TNFSF4 | Major susceptibility factor in | Assessed | HGNC:11934 | ENSG00000117586 | 603594 | 1q25.1 | TNF superfamily member 4 | 24091983[PMID]_22850862[PMID]_22820624[PMID]_21905002[PMID]_23943494[PMID]_19838193[PMID]_22654485[PMID] |
| TNIP1 | Major susceptibility factor in | Assessed | HGNC:16903 | ENSG00000145901 | 607714 | 5q33.1 | TNFAIP3 interacting protein 1 | 23917156[PMID]_23858047[PMID]_22833143[PMID]_22087647[PMID]_19838195[PMID]_22654485[PMID] |
| TREX1 | Major susceptibility factor in | Assessed | HGNC:12269 | ENSG00000213689 | 606609 | 3p21.31 | three prime repair exonuclease 1 | 17660818[PMID]_23732569[PMID] |
| UBE2L3 | Major susceptibility factor in | Assessed | HGNC:12488 | ENSG00000185651 | 603721 | 22q11.21 | ubiquitin conjugating enzyme E2 L3 | 23917156[PMID]_22045845[PMID]_22476155[PMID]_24091983[PMID]_23943494[PMID] |
| IGHG1 | Modifying germline mutation in | Assessed | HGNC:5525 | ENSG00000211896 | 147100 | 14q32.33 | immunoglobulin heavy constant gamma 1 (G1m marker) | 30287618[PMID] |
5
Prevalence and incidence
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 47 / 100 000 | France | Value and class | Validated | 25172239[PMID]_28968809[PMID] |
| Point prevalence | 6-9 / 10 000 | 64.2 / 100 000 | Martinique | Value and class | Validated | 11859691[PMID]_28968809[PMID] |
| Point prevalence | 1-5 / 10 000 | 14.7 / 100 000 | New Zealand | Value and class | Validated | 6929995[PMID]_28968809[PMID] |
| Point prevalence | 1-5 / 10 000 | 20.6 / 100 000 | Korea, Republic of | Value and class | Validated | 24322455[PMID]_28968809[PMID] |
| Point prevalence | 1-5 / 10 000 | 53.6 / 100 000 | United States | Value and class | Validated | 15333286[PMID]_28968809[PMID] |
| Point prevalence | 1-5 / 10 000 | 37 / 100 000 | Taiwan, Province of China | Value and class | Validated | 22899470[PMID]_28968809[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 28 / 100 000 | Finland | Value and class | Validated | 4001877[PMID]_28968809[PMID] |
| Annual incidence | 1-9 / 100 000 | 5.14 / 100 000 | Worldwide | Value and class | Validated | 36241363[PMID] |
| Point prevalence | 1-5 / 10 000 | 43.7 / 100 000 | Worldwide | Value and class | Validated | 36241363[PMID] |
| Annual incidence | 6-9 / 10 000 | 81.84 / 100 000 | Poland | Value and class | Validated | 36241363[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
44 annotations · validated 2023-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0033834 | Malaise | |
| HP:0000093 | Proteinuria | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0034077 | Anti-complement component C1q antibody positivity | |
| HP:0034076 | Anti-ribosome Po antibody positivity | |
| HP:5000038 | Anti-titin antibody positivity | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0001369 | Arthritis | |
| HP:0005421 | Decreased circulating complement C3 concentration | |
| HP:0045042 | Decreased circulating complement C4 concentration | |
| HP:0000790 | Hematuria | |
| HP:0000822 | Hypertension | |
| HP:0001882 | Leukopenia | |
| HP:0033726 | Lupus nephritis | |
| HP:0025300 | Malar rash | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0012085 | Pyuria | |
| HP:0030880 | Raynaud phenomenon | |
| Occasional (29-5%) | ||
| HP:0100669 | Abnormal pigmentation of the oral mucosa | |
| HP:0100755 | Abnormality of salivation | |
| HP:0032235 | Anti-La/SS-B antibody positivity | |
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | |
| HP:0033040 | Anti-Sm antibody positivity | |
| HP:0033028 | Anti-U1 ribonucleoprotein antibody positivity | |
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0033556 | Anti-nucleoporin 62 antibody positivity | |
| HP:0034096 | Anti-phosphatidic acid antibody positivity | |
| HP:0100825 | Cheilitis | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000716 | Depression | |
| HP:0007417 | Discoid lupus rash | |
| HP:0001878 | Hemolytic anemia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000155 | Oral ulcer | |
| HP:0001250 | Seizure | |
| HP:0045073 | Serositis | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0002072 | Chorea | |
| HP:0000488 | Retinopathy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30571026[PMID]_33609799[PMID]_36231212[PMID]_23871155[PMID]_25569641[PMID]_26945378[PMID]_32098572[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/536
- This record as JSON: /data/d/536.json