Antiphospholipid syndrome, familial

Preferred Label : Antiphospholipid syndrome, familial;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Lupus anticoagulant, familial;

Description : The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; 138700). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989). Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome. Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome. Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (188030), are discussed elsewhere (e.g., 109100, 269200).;

Inheritance : Autosomal dominant;

Prefixed ID : 107320;

Details

Origin ID

107320;

UMLS CUI

C2930802;

Currated CISMeF NLP mapping
- Antiphospholipid Syndrome [NCIt concept]
- Antiphospholipid antibody syndrome [PASCAL descriptor]
- Antiphospholipid syndrome [ORDO Disease]
- Antiphospholipid syndrome [MedDRA Preferred Term]
- Antiphospholipid syndrome [ICD-11 Category]
- Antiphospholipid syndrome [LOINC hierarchical part]
- Antiphospholipid syndrome [TUV Concept]
- Antiphospholipid syndrome (disorder) [SNOMED CT concept]
- antiphospholipid syndrome [DO Concept]
- antiphospholipid syndrome [Disease (Nov.)]
- antiphospholipid syndrome [SNOMED Notion]
- antiphospholipid syndrome [MeSH concept]
- antiphospholipid syndrome [MeSH Descriptor]
- familial antiphospholipid syndrome [MeSH Supplementary Concept]
DO Cross reference
- antiphospholipid syndrome [DO Concept]
HPO term(s)
- Arterial thrombosis [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blurred vision [HPO term]
- Central retinal artery occlusion [HPO term]
- Iritis [HPO term]
- Keratitis [HPO term]
- Lupus anticoagulant [HPO term]
- Retinal detachment [HPO term]
- Retinal vasculitis [HPO term]
- Scleritis [HPO term]
- Venous thrombosis [HPO term]
- Visual loss [HPO term]
- Vitritis [HPO term]
ORDO concept(s)
- Antiphospholipid syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial antiphospholipid syndrome [MeSH concept]
- familial antiphospholipid syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients