Autosomal systemic lupus erythematosus
Synonyms: Autosomal SLE · Familial SLE · Familial systemic lupus erythematosus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal systemic lupus erythematosus | Autosomal SLE · Familial SLE · Familial systemic lupus erythematosus |
| fr | Lupus érythémateux systémique autosomique | LES autosomique · LES familial · Lupus systémique autosomique · Lupus systémique familial · Lupus érythémateux systémique familial · SLE autosomique · SLE familial |
| de | Lupus erythematodes, systemischer, autosomal-rezessiver | SLE, autosomal-rezessiver · SLE, familiärer · Lupus erythematodes, systemischer, familiäre Form |
| es | Lupus eritematoso sistémico autosómico | LES autosómico · LES familiar · Lupus eritematoso sistémico familiar |
| it | Lupus eritematoso sistemico autosomico | Lupus eritematoso sistemico familiare · SLE autosomico recessivo · SLE familiare |
| nl | Autosomale systemische lupus erythematosus | Autosomale SLE · Familiale SLE · Familiale systemische lupus erythematosus |
| pt | Lúpus eritematoso sistémico autossómico | |
| pl | Autosomalny toczeń rumieniowaty układowy | Rodzinny SLE · Autosomalny SLE · Rodzinny toczeń rumieniowaty układowy |
| cs | Autozomálně recesivní systémový lupus erythematodes | Familiární SLE · Familiární systémový lupus erythematodes · Autozomálně recesivní SLE |
| uk | Аутосомний системний червоний вовчак | Аутосомний СЧВ · Сімейний СЧВ · Сімейний системний червоний вовчак |
| zh | 常染色体遗传系统性红斑狼疮 | 常染色体遗传系统性红斑狼疮 |
| tr | Otozomal sistemik lupus eritematozus | Ailesel SLE · Otozomal SLE · Ailesel sistemik lupus eritematozus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614420 | E | validated | |
| ICD-10 | M32.8 | NTBT | attributed | validated |
| ICD-11 | 4A40.0Y | NTBT | attributed | validated |
| MONDO | 0013743 | E | validated | |
| UMLS | C4750787 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:459353OBSOLETE: C1 inhibitor deficiency referred to · inactive
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C1R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1246 | ENSG00000159403 | 613785 | 12p13.31 | complement C1r | 28544690[PMID] |
| DNASE1L3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2959 | ENSG00000163687 | 602244 | 3p14.3 | deoxyribonuclease 1L3 | 22019780[PMID] |
| DNASE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2956 | ENSG00000213918 | 125505 | 16p13.3 | deoxyribonuclease 1 | 11479590[PMID] |
| C1QA | Major susceptibility factor in | Assessed | HGNC:1241 | ENSG00000173372 | 120550 | 1p36.12 | complement C1q A chain | 15032584[PMID] |
| C4A | Major susceptibility factor in | Assessed | HGNC:1323 | ENSG00000244731 | 120810 | 6p21.33 | complement C4A (Chido/Rodgers blood group) | 15032584[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 22019780[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300345
- This record as JSON: /data/d/300345.json