ORPHA:93552
Pediatric systemic lupus erythematosus
Synonyms: SLE, pediatric onset
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pediatric systemic lupus erythematosus | SLE, pediatric onset |
| fr | Lupus érythémateux disséminé de l'enfant | LES de l'enfant |
| de | Lupus erythematodes, systemischer, des Kindesalters | |
| es | Lupus eritematoso sistémico pediátrico | |
| it | Lupus eritematoso sistemico pediatrico | |
| nl | Pediatrische systemische lupus erythematosus | SLE, pediatrische aanvang |
| pt | Lúpus eritematoso sistémico de início na idade pediátrica | |
| pl | Dziecięcy toczeń rumieniowaty układowy | SLE, o początku w wieku dziecięcym |
| cs | Systémový lupus erythematodes dětského věku | SLE, nástup v dětském věku |
| uk | Дитячий системний червоний вовчак | СЧВ, початок у дітей |
| zh | 儿童系统性红斑狼疮 | SLE，儿童期发病 |
| tr | Pediyatrik sistemik lupus eritematozus | SLE, pediatrik başlangıçlı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M32.0 | NTBT | attributed | validated |
| ICD-10 | M32.1 | NTBT | attributed | validated |
| ICD-10 | M32.8 | NTBT | attributed | validated |
| ICD-10 | M32.9 | NTBT | attributed | validated |
| ICD-11 | 4A40.0Y | NTBT | attributed | validated |
| MONDO | 0019725 | E | validated | |
| UMLS | C1274834 | 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 (6):
- ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:264704Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
rare respiratory diseases; rare transplant-related disorders - 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10540 | ENSG00000130066 | 313020 | Xp22.11 | spermidine/spermine N1-acetyltransferase 1 | 35977808[PMID] |
| IRAK1 | Major susceptibility factor in | Assessed | HGNC:6112 | ENSG00000184216 | 300283 | Xq28 | interleukin 1 receptor associated kinase 1 | 19329491[PMID] |
| SPP1 | Major susceptibility factor in | Not yet assessed | HGNC:11255 | ENSG00000118785 | 166490 | 4q22.1 | secreted phosphoprotein 1 | 24023622[PMID] |
| STAT4 | Major susceptibility factor in | Assessed | HGNC:11365 | ENSG00000138378 | 600558 | 2q32.2-q32.3 | signal transducer and activator of transcription 4 | 24023622[PMID]_17804842[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | United States | Value and class | Validated | 34825516[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.7 / 100 000 | United States | Value and class | Validated | 34825516[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
53 annotations · validated 2019-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005421 | Decreased circulating complement C3 concentration | |
| HP:0045042 | Decreased circulating complement C4 concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| Frequent (79-30%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000951 | Abnormality of the skin | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0000969 | Edema | |
| HP:0001945 | Fever | |
| HP:0000790 | Hematuria | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001882 | Leukopenia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001888 | Lymphopenia | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0000123 | Nephritis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0001698 | Pericardial effusion | |
| HP:0002202 | Pleural effusion | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0000988 | Skin rash | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0001541 | Ascites | |
| HP:0040319 | Dark urine | |
| HP:0007417 | Discoid lupus rash | |
| HP:0002094 | Dyspnea | |
| HP:0002315 | Headache | |
| HP:0002301 | Hemiplegia | |
| HP:0025343 | Lupus anticoagulant | |
| HP:0025300 | Malar rash | |
| HP:0001324 | Muscle weakness | |
| HP:0000155 | Oral ulcer | |
| HP:0000709 | Psychosis | |
| HP:0004372 | Reduced consciousness | |
| HP:0001250 | Seizure | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001596 | Alopecia | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0100749 | Chest pain | |
| HP:0100543 | Cognitive impairment | |
| HP:0002014 | Diarrhea | |
| HP:0002463 | Language impairment | |
| HP:0100614 | Myositis | |
| HP:0030880 | Raynaud phenomenon | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30957986[PMID]_31012595[PMID]_31030361[PMID]_31036039[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93552
- This record as JSON: /data/d/93552.json