ORPHA:80
Antiphospholipid syndrome
Synonyms: APLS · Antiphospholipid antibody syndrome · Classic APLS · Classic antiphospholipid syndrome · Hughes syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antiphospholipid syndrome | APLS · Antiphospholipid antibody syndrome · Classic APLS · Classic antiphospholipid syndrome · Hughes syndrome |
| fr | Syndrome des antiphospholipides | SAPL · SAPL classique · Syndrome de Hughes · Syndrome des anticorps antiphospholipides · Syndrome des antiphospholipides classique |
| de | Anti-Phospholipid-Syndrom | APLS · APLS, klassisch · Anti-Phospholipid-Antikörper-Syndrom · Hughes-Syndrom · Klassisches Anti-Phospholipid-Syndrom · Lupus-Antikoagulans, familiäre |
| es | Síndrome antifosfolípido | SAFL · SAFL clásico · Síndrome antifosfolípido clásico · Síndrome de Hughes · Síndrome de anticuerpos antifosfolípidos |
| it | Sindrome da antifosfolipidi | APLS · APLS classica · Sindrome classica da antifosfolipidi · Sindrome da anticorpi antifosfolipidi · Sindrome di Hughes |
| nl | Antifosfolipidensyndroom | Antifosfolipide antilichamen-syndroom · Klassiek APLS · Klassiek antifosfolipidensyndroom · Syndroom van Hughes |
| pt | Síndrome antifosfolipídico | APLS · APLS clássico · Síndrome Hughes · Síndrome do anticorpo anti-fosfolípido |
| pl | Zespół antyfosfolipidowy | Zespół Hughesa |
| cs | Antifosfolipidový syndrom | = en |
| uk | Антифосфоліпідний синдром | Синдром антифосфоліпідних антитіл · APLS · Класичний антифосфоліпідний синдром · Класичний APLS · Синдром Хьюза |
| zh | 欧洲非罕见：抗磷脂综合征 | 抗磷脂抗体综合征 |
| tr | AVRUPA'DA NADİR OLMAYAN: Antifosfolipid sendromu | APS · Hughes sendromu · Ailesel lupus antikoagülan · Antifosfolipid antikor sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D68.6 | NTBT | inclusion | validated |
| ICD-11 | 4A45 | E | specific | validated |
| MONDO | 8000010 | E | validated | |
| MeSH | D016736 | E | validated | |
| UMLS | C0085278 | E | validated | |
| GARD | 5824 | E | validated | |
| MedDRA | 10002817 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - ORPHA:248365Rare thrombotic disorder due to an acquired coagulation factors defect
rare hematological diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 45 / 100 000 | Worldwide | Value and class | Validated | 34985614[PMID]_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.
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HPO phenotypes
39 annotations · validated 2024-02-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0032376 | Anti-beta 2 glycoprotein I antibody positivity | |
| HP:0034156 | Anti-beta-2-Glycoprotein I IgG antibody positivity | Diagnostic criterion |
| HP:0034157 | Anti-beta-2-Glycoprotein I IgM antibody positivity | Diagnostic criterion |
| HP:0020136 | Anticardiolipin IgG antibody positivity | Diagnostic criterion |
| HP:0020137 | Anticardiolipin IgM antibody positivity | Diagnostic criterion |
| HP:0003613 | Antiphospholipid antibody positivity | Diagnostic criterion |
| HP:0004420 | Arterial thrombosis | Diagnostic criterion |
| HP:0012378 | Fatigue | |
| HP:0008222 | Female infertility | |
| HP:0100724 | Hypercoagulability | |
| HP:0000822 | Hypertension | |
| HP:0002140 | Ischemic stroke | |
| HP:0033260 | Livedo racemosa | |
| HP:0033505 | Livedo reticularis | |
| HP:0025343 | Lupus anticoagulant | Diagnostic criterion |
| HP:0012531 | Pain | |
| HP:0100602 | Preeclampsia | Diagnostic criterion |
| HP:0001622 | Premature birth | Diagnostic criterion |
| HP:0002326 | Transient ischemic attack | |
| HP:0004936 | Venous thrombosis | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0034101 | Anti-annexin-V antibody positivity | |
| HP:0034097 | Anti-phosphatidyl choline antibody positivity | |
| HP:0034084 | Anti-phosphatidyl ethanolamine antibody positivity | |
| HP:0034098 | Anti-phosphatidyl glycerol antibody positivity | |
| HP:0034099 | Anti-phosphatidyl inositol antibody positivity | |
| HP:0034100 | Anti-phosphatidyl serine antibody positivity | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100758 | Gangrene | |
| HP:0001268 | Mental deterioration | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001718 | Mitral stenosis | |
| HP:0000093 | Proteinuria | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001250 | Seizure | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0025420 | Diffuse alveolar hemorrhage | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 36849186[PMID]_32413497[PMID]_31866276[PMID]_28613698[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/80
- This record as JSON: /data/d/80.json