MCID: ANT041
MIFTS: 26

Antiphospholipid Syndrome, Familial

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Antiphospholipid Syndrome, Familial

MalaCards integrated aliases for Antiphospholipid Syndrome, Familial:

Name: Antiphospholipid Syndrome, Familial 58 13
Lupus Anticoagulant, Familial 58 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable ocular phenotype


HPO:

33
antiphospholipid syndrome, familial:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Antiphospholipid Syndrome, Familial

OMIM : 58 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). (107320)

MalaCards based summary : Antiphospholipid Syndrome, Familial, also known as lupus anticoagulant, familial, is related to antiphospholipid syndrome and thrombophilia. An important gene associated with Antiphospholipid Syndrome, Familial is ATPLS (Antiphospholipid Syndrome, Familial). The drugs Enoxaparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and endothelial, and related phenotypes are venous thrombosis and keratitis

Wikipedia : 77 Lupus anticoagulant is an immunoglobulin that binds to phospholipids and proteins associated with the... more...

Related Diseases for Antiphospholipid Syndrome, Familial

Diseases in the Antiphospholipid Syndrome family:

Antiphospholipid Syndrome, Familial

Diseases related to Antiphospholipid Syndrome, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 11.5
2 thrombophilia 9.8

Symptoms & Phenotypes for Antiphospholipid Syndrome, Familial

Human phenotypes related to Antiphospholipid Syndrome, Familial:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 venous thrombosis 33 HP:0004936
2 keratitis 33 HP:0000491
3 retinal detachment 33 HP:0000541
4 visual loss 33 HP:0000572
5 arterial thrombosis 33 HP:0004420
6 blurred vision 33 HP:0000622
7 autoimmune thrombocytopenia 33 HP:0001973
8 iritis 33 HP:0001101
9 scleritis 33 HP:0100532
10 vitritis 33 HP:0011531
11 lupus anticoagulant 33 HP:0025343
12 retinal vasculitis 33 HP:0025188
13 central retinal artery occlusion 33 HP:0025342

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
venous thrombosis
arterial thrombosis

Hematology:
immune thrombocytopenia

Prenatal Manifestations Delivery:
recurrent fetal loss

Head And Neck Eyes:
retinal detachment
visual loss
blurred vision
iritis
vitritis
more
Immunology:
autoantibodies against cellular phospholipid components
anticardiolipin antibodies
lupus anticoagulant antibodies

Clinical features from OMIM:

107320

Drugs & Therapeutics for Antiphospholipid Syndrome, Familial

Drugs for Antiphospholipid Syndrome, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enoxaparin Approved Phase 4,Phase 2,Early Phase 1,Not Applicable 9005-49-6 772
2
Dalteparin Approved Phase 4,Phase 2,Early Phase 1,Not Applicable 9005-49-6
3
Heparin Approved, Investigational Phase 4,Phase 1,Phase 2,Early Phase 1,Not Applicable 9005-49-6 46507594 772
4
Rivaroxaban Approved Phase 4,Phase 2,Phase 3 366789-02-8
5
Apixaban Approved Phase 4 503612-47-3 10182969
6
Warfarin Approved Phase 4,Phase 2,Phase 3,Not Applicable 81-81-2 54678486 6691
7
leucovorin Approved Phase 4 58-05-9 143 6006
8
Acetaminophen Approved Phase 4,Phase 1,Not Applicable 103-90-2 1983
9
Serine Approved, Nutraceutical Phase 4,Phase 2,Phase 3 56-45-1 5951
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Vaccines Phase 4,Phase 2,Not Applicable
13 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Antibodies, Antiphospholipid Phase 4,Phase 3,Phase 2,Not Applicable
16 Anticoagulants Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
17 calcium heparin Phase 4,Phase 1,Phase 2,Early Phase 1,Not Applicable
18 Heparin, Low-Molecular-Weight Phase 4,Phase 2,Early Phase 1,Not Applicable
19 Fibrinolytic Agents Phase 4,Phase 2,Early Phase 1,Not Applicable
20 Antithrombins Phase 4,Phase 2,Phase 3,Not Applicable
21 Antithrombin III Phase 4,Phase 2,Phase 3,Not Applicable
22
protease inhibitors Phase 4,Phase 2,Phase 3
23 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3
24 Serine Proteinase Inhibitors Phase 4,Phase 2,Phase 3
25 Factor Xa Inhibitors Phase 4,Phase 2,Phase 3
26 Nutrients Phase 4
27 Vitamin B Complex Phase 4
28 Vitamin B9 Phase 4
29 Folate Phase 4
30 Trace Elements Phase 4
31 Hematinics Phase 4
32 Vitamins Phase 4
33 Micronutrients Phase 4
34 Analgesics Phase 4,Phase 2,Early Phase 1,Not Applicable
35 Peripheral Nervous System Agents Phase 4,Phase 2,Early Phase 1,Not Applicable
36 Antipyretics Phase 4,Phase 2,Early Phase 1,Not Applicable
37 Analgesics, Non-Narcotic Phase 4,Phase 2,Early Phase 1,Not Applicable
38
Hydroxychloroquine Approved Phase 3,Phase 2,Not Applicable 118-42-3 3652
39
tannic acid Approved Phase 2, Phase 3,Phase 1 1401-55-4
40
Benzocaine Approved, Investigational Phase 2, Phase 3,Phase 1 1994-09-7, 94-09-7 2337
41
Acenocoumarol Approved, Investigational Phase 3 152-72-7 54676537 9052
42 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
43 Antimalarials Phase 3,Phase 2,Not Applicable
44 Antiparasitic Agents Phase 3,Phase 2,Not Applicable
45 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
46 Antiprotozoal Agents Phase 3,Phase 2,Not Applicable
47 Autoantibodies Phase 3,Phase 1
48 Antivitamins K Phase 3
49
Aspirin Approved, Vet_approved Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 50-78-2 2244
50
rituximab Approved Phase 2 174722-31-7 10201696

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Rivaroxaban for Antiphospholipid Antibody Syndrome Completed NCT02116036 Phase 4 Rivaroxaban
3 Apixaban for the Secondary Prevention of Thromboembolism Among Patients With the AntiphosPholipid Syndrome Recruiting NCT02295475 Phase 4 Apixaban;Warfarin
4 Use of Warfarin After the First Trimester in Pregnant Women With APS Recruiting NCT02303171 Phase 4 Enoxaparin;Warfarin
5 Timing of Initiation of LMWH Administration in Pregnant Women With APS Completed NCT02326051 Phase 4 Enoxaparin;Enoxaparin
6 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4 LMWH+Folic acid;Folic Acid
7 Drug Interaction Between Paracetamol and Warfarin Completed NCT01104337 Phase 4 paracetamol;paracetamol;Placebo
8 Hydroxychloroquine Versus Placebo: Impact on Thrombotic Relapse in Primary Antiphospholipid Syndrome Not yet recruiting NCT03540810 Phase 3 Hydroxychloroquine;Placebo
9 RIvaroxaban for Stroke Patients With AntiPhospholipid Syndrome Not yet recruiting NCT03684564 Phase 2, Phase 3 Rivaroxaban;Warfarin
10 Rivaroxaban for Patients With Antiphospholipid Syndrome Completed NCT02926170 Phase 3 Rivaroxaban;acenocumarol
11 Rivaroxaban in Thrombotic Antiphospholipid Syndrome Terminated NCT02157272 Phase 3 Experimental: Rivaroxaban
12 Hydroxychloroquine for the First Thrombosis Prevention in Antiphospholipid Antibody Positive Patients Terminated NCT01784523 Phase 3 Hydroxychloroquine
13 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
14 Study of the Efficiency of Hydroxychloroquine on the Endothelial Dysfunction and Its Vascular Consequences During the Antiphospholipid Syndrome Unknown status NCT02595346 Phase 2 Hydroxychloroquine;placebo
15 Steroids and Antiphospholipid Syndrome- Related Pregnancy Loss Unknown status NCT00180778 Phase 1, Phase 2 Low dose steroids
16 A Pilot Study of Rituximab for the Anticoagulation Resistant Manifestations of Antiphospholipid Syndrome Completed NCT00537290 Phase 2 Rituximab
17 Effects of Fluvastatin on Proinflammatory and Prothrombotic Markers in Antiphospholipid Syndrome Patients Completed NCT00674297 Phase 2 Fluvastatin
18 Eculizumab to Enable Renal Transplantation in Patients With History of Catastrophic Antiphospholipid Antibody Syndrome Active, not recruiting NCT01029587 Phase 2 Eculizumab
19 Low-molecular-weight Heparin (LMWH) Versus Unfractionated Heparin (UFH) in Pregnant Women With Recurrent Abortion Secondary to Antiphospholipid Syndrome Completed NCT01051778 Phase 2 enoxaparin 40mg plus low dose aspirin;Heparin calcium5,000 U twice daily plus low dose aspirin
20 Phase IIa Trial of ALXN1007 for the Treatment of Non-criteria Manifestations of Antiphospholipid Syndrome Terminated NCT02128269 Phase 2
21 IMPACT Study: IMProve Pregnancy in APS With Certolizumab Therapy Recruiting NCT03152058 Phase 2 Certolizumab Pegol
22 Aspirin in Asymmetrically Intrauterine Growth Completed NCT03038607 Phase 2 Aspirin
23 Evaluate Safety & Immunogenicity of a Pandemic Influenza Vaccine (GSK1562902A) in Children Completed NCT00502593 Phase 2
24 Infections and Autoimmunity: Autobodies Screening in Multiple Sclerosis Unknown status NCT00230204 Phase 1
25 Hematopoietic Stem Cell Transplantation in Patients With Antiphospholipid Syndrome Withdrawn NCT00278616 Phase 1
26 Nonmyeloablative Allo Stem Cell Transplant for Severe Autoimmune Diseases Terminated NCT00849745 Phase 1
27 Preconceptional Thromboprophylaxis in Recurrent PREGNANCY LOSSES Caused by Antiphospholipid Syndrome Unknown status NCT01661439 low molecular weight heparin (enoxeparine)
28 Antiphospholipid Antibodies and Early Severe Preeclampsia. Unknown status NCT01538121
29 Antiphospholipid Antibodies and Fetal Growth Restriction Unknown status NCT01538134
30 Beneficial Effects of Coenzyme Q10 Treatment on the Mitochondrial Dysfunction and Oxidative Stress Associated to Atherothrombosis Developement in Antiphospholipidid Syndrome Patients Unknown status NCT02218476 Not Applicable CoQ10;Placebo
31 The Influence of Antiphospholipid Antibodies on the Relationship Between Hyperurecemia, Gout and Metabolic Syndrome Unknown status NCT01818505
32 Ocular Findings in Women With Primary Antiphospholipid Syndrome Completed NCT03459508
33 Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients With Antiphospholipid Syndrome. Not yet recruiting NCT03384485 Not Applicable
34 Genetic Risk Factors Associated With Antiphospholipid Antibody Syndrome Recruiting NCT00482794
35 Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid Syndrome Terminated NCT01649479 Not Applicable
36 Medium-term Follow-up of Patients With Obstetric Antiphospholipid Syndrome: MRI Study of White Matter Recruiting NCT03600636 Not Applicable
37 Monitoring Anticoagulant Therapy in Antiphospholipid Syndrome Completed NCT01660061
38 Register for Pediatric Patients With Antiphospholipid Syndrome (APS): European Project Extended Internationally Study Recruiting NCT00616317
39 Reliability of Point-of-care INR Measurements in Patients With Antiphospholipid-antibody Syndrome Treated With Warfarin Completed NCT00878137
40 CoaguChek XS in Antiphospholipid Antibody Syndrome (APL) Patients Completed NCT02139072
41 Pilot Study of Gut Commensals in Antiphospholipid Syndrome Active, not recruiting NCT01787305
42 Antiphospholipid Syndrome Collaborative Registry (APSCORE) Completed NCT00076713
43 Multi-organ Screening for Asymptomatic Ischaemia in Antiphospholipid Syndrome Recruiting NCT03348306 Not Applicable
44 The Prognostic Value of PGF and sFlt1 Variations Induced by the First Low-molecular-weight-heparin Injections in Women With Obstetrical Antiphospholipids Antibody Syndrome Starting a New Pregnancy and Following Treatment in Accordance With International Recommendations Completed NCT02855047
45 Predictors of Pregnancy Outcome in Systemic Lupus Erythematosus (SLE) and Antiphospholipid Syndrome (APS) Recruiting NCT00198068
46 Register of Patients With Anti-Phospholipids Syndrome (APS) and/or Systemic Lupus Erythematosus (SLE) Recruiting NCT02782039
47 AntiPhospholipid Syndrome Low-molecular-weight Heparin Pregnancy Loss Evaluation: The Pilot Study Recruiting NCT03100123 Early Phase 1 Aspirin 81 mg;Low-molecular-weight heparin
48 Assessment of the Prevalence of Major Psychiatric Disorders in a Cohort of Women With Clinical Criteria Corresponding to Pure, Abortive-form, Obstetrical, Antiphospholipid Syndrome Completed NCT02833194
49 Pilot Study of Cyclophosphamide in Patients With Life-Threatening Systemic Lupus Erythematosus or Antiphospholipid Antibody Syndrome Completed NCT00010400 Not Applicable Cyclophosphamide;filgrastim
50 The Value of Placental Vascularization and Placental Volume in Pregnancy in APLS Recruiting NCT03505840

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Anatomical Context for Antiphospholipid Syndrome, Familial

MalaCards organs/tissues related to Antiphospholipid Syndrome, Familial:

42
Testes, Bone, Endothelial

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Expression for Antiphospholipid Syndrome, Familial

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GO Terms for Antiphospholipid Syndrome, Familial

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