APS
MCID: ANT006
MIFTS: 64

Antiphospholipid Syndrome (APS) malady

Immune, Genetic categories

Summaries for Antiphospholipid Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.

MalaCards: Antiphospholipid Syndrome, also known as antiphospholipid antibody syndrome, is related to systemic lupus erythematosus and pregnancy loss. An important gene associated with Antiphospholipid Syndrome is ATPLS (antiphospholipid syndrome, familial), and among its related pathways are Complement and coagulation cascades and Collagen biosynthesis and modifying enzymes. The compounds homocysteine and creatinine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

Disease Ontology:8 An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).

NIH Rare Diseases:43 Antiphospholipid syndrome is an autoimmune disorder. it is characterized by high levels of multiple different antibodies that are associated with clots in the arteries and veins. symptoms vary and can include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. treatment involves thinning the blood to reduce clotting. last updated: 2/13/2009

NINDS:44 Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs.

Wikipedia:64 Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS or), often also Hughes... more...

Description from OMIM:47 107320

Aliases & Classifications for Antiphospholipid Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Immune


Aliases & Descriptions:

antiphospholipid syndrome 8 43 22 21 44 10 45 61
antiphospholipid antibody syndrome 8 43 21
hughes syndrome 43 21 44
antiphospholipid syndrome, familial 47
familial antiphospholipid syndrome 43
lupus anticoagulant, familial 43
anti-phospholipid syndrome 21
aps 43


External Ids:

Disease Ontology8 DOID:2988
NCIt40 C61283
MeSH35 D016736
OMIM47 107320

Related Diseases for Antiphospholipid Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Antiphospholipid Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 414)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus31.3ADAMTS13, SULT1A3, CFH, F2, F3, CD79A
2pregnancy loss30.7SERPINC1, F2, F3, CD40LG, ANXA5, F10
3venous thrombosis30.7SERPINC1, SULT1A3, F2, F3, PROCR, F10
4hellp syndrome30.7ADAMTS13, SERPINC1, MTHFR, F5, APOH
5thrombocytopenia30.7ADAMTS13, SERPINC1, CFH, F2, F3, CD79A
6stroke, ischemic30.6F2, F5
7thromboembolism30.6SERPINC1, SULT1A3, F2, F3, PROCR, F10
8thrombophilia30.4SERPINC1, F2, F3, ANXA5, PROCR, F10
9protein s deficiency30.4SERPINC1, F2, F3, MTHFR, F5, F8
10vascular disease30.4SERPINC1, SULT1A3, F3, MTHFR, F5, APOH
11autoimmune hemolytic anemia30.4CD79A, CD40LG
12protein c deficiency30.4SERPINC1, F2, PROCR, MTHFR, F5, APOH
13atherosclerosis30.4SERPINC1, SULT1A3, F3, CD40LG, ANXA5, ANXA2
14syphilis30.4CD79A, APOH
15coronary thrombosis30.4SERPINC1, F3
16purpura fulminans30.3SERPINC1, PROCR, F5
17thrombocytosis30.3SERPINC1, F2, F3, F10
18sneddon syndrome30.3SERPINC1, APOH
19hepatitis a30.3F2, F8
20hepatitis c30.3F2, CD40LG, ANXA5, F8
21acute myocardial infarction30.2ADAMTS13, SERPINC1, SULT1A3, F3, F10
22hyperhomocysteinemia30.2SERPINC1, F2, MTHFR, F5, F8, APOH
23vasculitis30.2SULT1A3, F2, CD79A, CD40LG, APOH
24thrombophlebitis30.1F8, APOH
25portal vein thrombosis30.1SERPINC1, F2, MTHFR, F5, F8
26eclampsia30.1SERPINC1, MTHFR
27patent foramen ovale30.1F5
28arthritis30.1SULT1A3, F10
29nephritis30.1SULT1A3, CD79A, CD40LG, APOH
30sepsis30.1ADAMTS13, SERPINC1, SULT1A3, F2, F3, PROCR
31lupus nephritis30.1ADAMTS13, CD79A, CD40LG, APOH
32branch retinal artery occlusion30.1F5
33blindness29.8CFH
34ovarian hyperstimulation syndrome29.8F5
35viral hepatitis29.8F2, F10, F8
36acute pancreatitis29.8SULT1A3
37sagittal sinus thrombosis29.8SERPINC1, F5
38carotid artery thrombosis29.8F3
39acute leukemia29.8MTHFR
40cryoglobulinemia29.8CD79A, CD40LG, APOH
41cardiac tamponade29.8F8
42mondor disease29.8F5, APOH
43down syndrome29.8MTHFR
44insulin resistance29.8F8
45peripheral vascular disease29.8F3, MTHFR
46septic shock29.8SERPINC1, F3, F5
47stomach cancer29.8ANXA5, MTHFR
48colorectal cancer29.8ANXA5, ANXA2, MTHFR
49catastrophic antiphospholipid syndrome11.1
50n syndrome10.9

Graphical network of the top 20 diseases related to Antiphospholipid Syndrome:



Diseases related to antiphospholipid syndrome

Clinical Features for Antiphospholipid Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

107320

Drugs & Therapeutics for Antiphospholipid Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Antiphospholipid Syndrome

Drug clinical trials:

Search ClinicalTrials for Antiphospholipid Syndrome

Search NIH Clinical Center for Antiphospholipid Syndrome

Search CenterWatch for Antiphospholipid Syndrome

Genetic Tests for Antiphospholipid Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Antiphospholipid Syndrome:

id Genetic test Affiliating Genes
1 Antiphospholipid Syndrome22

Anatomical Context for Antiphospholipid Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Antiphospholipid Syndrome:

33
Bone marrow, Whole blood, Brain, Spinal cord, Heart, Small intestine, Colon, Kidney, Liver, Lung, Adrenal gland, Breast, Skin, Placenta, Monocytes, T cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Pituitary

Animal Models for Antiphospholipid Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.5ADAMTS13, APOH, F8, F5, MTHFR, F10
2MP:000538510.5ANXA2, CD40LG, F3, F2, CFH, F10
3MP:000539710.5F8, PROCR, ANXA2, CD40LG, CD79A, F3
4MP:001076810.4F10, MTHFR, F5, F8, APOH, PROCR
5MP:000538710.2F8, PROCR, ANXA5, CD40LG, CD79A, F3

Publications for Antiphospholipid Syndrome

Sources:
51PubMed
See all sources

Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1364)
idTitleAuthorsYear
1
Subclinical Atherosclerosis in Systemic Lupus Erythematosus and Antiphospholipid Syndrome: Focus on I^2GPI-Specific T Cell Response. (24436371)
2014
2
Primary antiphospholipid syndrome manifesting as partial status epilepticus. (23545615)
2013
3
Does the presence of secondary antiphospholipid syndrome in patients with systemic lupus erythematodes accelerate carotid arteries intima-media thickness changes? (24232505)
2013
4
Comment on diffuse alveolar hemorrhage and Libman-Sacks endocarditis as a manifestation of possible primary antiphospholipid syndrome. (23884191)
2013
5
Disseminated Nocardia infection presenting as hemorrhagic pustules and ecthyma in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome. (23858342)
2013
6
The optimal tool for assessment of organ damage in antiphospholipid syndrome. (23280164)
2013
7
A pilot open-label phase II trial of rituximab for non-criteria manifestations of antiphospholipid syndrome. (23124321)
2013
8
Long-term treatment of antiphospholipid syndrome with intravenous immunoglobulin in addition to conventional therapy. (23985161)
2013
9
Degradation of neutrophil extracellular traps is decreased in patients with antiphospholipid syndrome. (24295292)
2013
10
IgA deficiency in primary antiphospholipid syndrome. (23809213)
2013
11
The management of stroke in antiphospholipid syndrome. (22109663)
2012
12
Primary antiphospholipid syndrome: morphofunctional penile abnormalities with normal sperm analysis. (22004973)
2012
13
Branch retinal artery occlusion secondary to antiphospholipid syndrome. (23281524)
2012
14
Antiphospholipid syndrome: diagnosis. (23122547)
2012
15
Significant changes in the levels of secreted cytokines in brains of experimental antiphospholipid syndrome mice. (22454760)
2012
16
Pathogenesis of the antiphospholipid syndrome. (22510982)
2012
17
Antiphospholipid Syndrome Clinical Research Task Force report. (21303838)
2011
18
Complement and the antiphospholipid syndrome. (21730831)
2011
19
The prevalence and clinical significance of inherited thrombophilic risk factors in patients with antiphospholipid syndrome. (19504051)
2010
20
Unusual case of nonbacterial thrombotic endocarditis attributable to primary antiphospholipid syndrome. (20855665)
2010
21
Cardiovascular ultrasound in detecting central venous catheter thrombosis in the intensive care unit: splenectomy and antiphospholipid syndrome. (20514974)
2010
22
Antiphospholipid syndrome following a diphtheria-tetanus vaccination: coincidence vs. causality. (21090524)
2010
23
New approaches for managing antiphospholipid syndrome. (19252521)
2009
24
Val/Leu247 polymorphism of beta2-glycoprotein I in Brazilian patients with antiphospholipid syndrome--a genetic risk factor? (19758193)
2009
25
Factor V Leiden mutation and antiphospholipid syndrome: risk factors for atherosclerotic and arterial thromboembolic disease. (19574060)
2009
26
Lower cranial nerve palsy, aseptic meningitis and hydrocephalus: unusual presentation of primary antiphospholipid syndrome. (21874138)
2009
27
Warfarin in the treatment of antiphospholipid syndrome]. (17672075)
2007
28
Catastrophic antiphospholipid syndrome: atypical presentation in the setting of chronic graft versus host disease: case report and review of the literature. (15753058)
2005
29
Peripheral vascular disease in antiphospholipid syndrome. (15507285)
2004
30
Longitudinal evaluation of markers of endothelial cell dysfunction and hemostasis in treated antiphospholipid syndrome and in healthy pregnancy. (12592255)
2003
31
Neurological aspects in antiphospholipid syndrome]. (15152454)
2003
32
Antiphospholipid antibody syndrome: rapid, sensitive, and specific flow cytometric assay for determination of anti-platelet phospholipid autoantibodies. (11944025)
2002
33
Antiphospholipid syndrome treated with prednisolone, cyclophosphamide and double-filtration plasmapheresis. (12322801)
2002
34
Antiphospholipid antibody syndrome and renal disease. (11224691)
2001
35
Primary antiphospholipid antibody syndrome and mesangial IgA glomerulonephritis. (11359021)
2001
36
beta2-Glycoprotein 1 as a marker of antiphospholipid syndrome in women with recurrent pregnancy loss. (10689008)
2000
37
Patent foramen ovale and "catastrophic" antiphospholipid syndrome. (10674859)
2000
38
The role of infection in the pathogenesis of catastrophic antiphospholipid syndrome--molecular mimicry? (10648011)
2000
39
Reactive angioendotheliomatosis in association with the antiphospholipid syndrome. (10767702)
2000
40
Effects of antithrombin on Binswanger's disease with antiphospholipid antibody syndrome. (9932966)
1999
41
Microscopic polyangiitis associated with antiphospholipid syndrome. (10371294)
1999
42
The role of the tissue factor pathway in the hypercoagulable state in patients with the antiphospholipid syndrome. (9493575)
1998
43
Phospholipid-independent binding of beta 2glycoprotein I by IgA from patients with antiphospholipid syndrome. (9646856)
1998
44
Antiphospholipid antibodies other than lupus anticoagulant and anticardiolipin antibodies in women with recurrent pregnancy loss, fertile controls, and antiphospholipid syndrome. (9380335)
1997
45
Animal models for antiphospholipid syndrome in pregnancy. (9031377)
1997
46
Anti-beta 2-glycoprotein I antibodies: a useful marker for the antiphospholipid syndrome. (9117149)
1997
47
Antiphospholipid antibody syndrome. (8153404)
1994
48
"Catastrophic antiphospholipid syndrome crisis". (8070173)
1994
49
Suppression of experimental antiphospholipid syndrome and systemic lupus erythematosus in mice by anti-CD4 monoclonal antibodies. (7914411)
1994
50
Post sinusoidal obstruction of the hepatic venous flow associated with antiphospholipid syndrome in 3 cases]. (8272613)
1993

Genetic Variations for Antiphospholipid Syndrome

Expression for genes affiliated with Antiphospholipid Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Antiphospholipid Syndrome

Search GEO for disease gene expression data for Antiphospholipid Syndrome.

Pathways for genes affiliated with Antiphospholipid Syndrome

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 53R&D Systems, 50PharmGKB
See all sources

Compounds for genes affiliated with Antiphospholipid Syndrome

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 171)
idCompoundScoreTop Affiliating Genes
1homocysteine45 2411.9SULT1A3, F2, F3, APOH, F8, F5
2creatinine4510.9TNXA, APOH, ADAMTS13, SULT1A3, F2, F3
3warfarin45 50 11 2413.9APOH, CD79A, SERPINC1
4aspirin45 50 29 2413.9SERPINC1, SULT1A3, F3, CD79A, CD40LG, F10
5hirudin4510.9F3, F2, SERPINC1, TNXA, F8, F5
6kaolin4510.9F8, F5, F10, F3, F2, APOH
7cardiolipin45 1111.9CFH, F10, CRLS1
8fibrinogen4510.9CFH, F2, F3, CD79A, CD40LG, ANXA5
9heparin45 29 11 2413.9ADAMTS13, MTHFR, APOH, CD79A, CD40LG, ANXA5
10phosphatidylserine45 29 1112.9F2, F3, CD79A, CD40LG, ANXA5, ANXA2
11fondaparinux4510.9F5, F10, F3, F2, SERPINC1, TNXA
12danaparoid4510.9SERPINC1, TNXA, F5, F10, F3, F2
13ecarin4510.9F5, SERPINC1, F2, F3, F10
14bivalirudin45 1111.9TNXA, F2, F5, F10, F3, SERPINC1
15argatroban45 1111.9SERPINC1, F2, F3, F10, F5, TNXA
16ristocetin4510.9F5, F3, F8, F2, SERPINC1, ADAMTS13
17tirofiban45 1111.9F10, ANXA5, CD40LG, SERPINC1, F3, F2
18spectrozyme4510.9SERPINC1, F5, F3, F10, F2
19polysaccharide4510.9SERPINC1, F3, ANXA2, F10, CD40LG, CD79A
20phospholipid4510.9F3, ANXA5, ANXA2, PROCR, F10, F5
21ximelagatran45 1111.9F5, F10, F2, SERPINC1, F3
22gamma-carboxyglutamic acid4510.9F2, F3, PROCR, F10, F5, TNXA
23phosphatidylcholine4510.8F2, F10, ANXA2, ANXA5, F5, CD79A
24endotoxin4510.8ADAMTS13, F3, CD40LG, PROCR, F5, F8
25heparinoids4510.8SERPINC1, F2, F3, F5, F10
26abciximab45 1111.8ANXA5, F3, CD40LG, F2, SERPINC1, F10
27alanine4510.8F8, CFH, F2, CD79A, CD40LG, F3
28desmopressin45 60 29 1113.8F2, F5, ADAMTS13, SERPINC1, F3, F8
29clopidogrel50 45 11 2413.8F2, F3, CD40LG, F10, TNXA, SERPINC1
30coumarins4510.8F10, F3, APOH
31polyethylene glycol4510.8F2, CD40LG, F10, F5, F8, CD79A
32ppack4510.8F2, SERPINC1, CD40LG, F10, F3
33vegf4510.8APOH, SERPINC1, F3, PROCR, ANXA2, ANXA5
34protamine sulfate4510.8F5, SERPINC1, F3, F2, F10
35phosphatidylethanolamine45 1111.8F2, ANXA5, F8, F5, PROCR, APOH
36inogatran4510.8F2, F3, F5, SERPINC1
37protamine4510.8F10, F2, F3, TNXA, SERPINC1, F5
38dermatan sulfate4510.7F3, F5, TNXA, F2, F10, SERPINC1
39serine4510.7F8, F10, PROCR, ADAMTS13
40dextran sulfate4510.7F10, F5, APOH, CD40LG
41citrate4510.7F2, CD79A, F5, SERPINC1, F8, F3
42estrogen4510.7F8, SULT1A3, CD79A, APOH
43nadroparin45 1111.6SERPINC1, TNXA, F3, F10
44arginine4510.6SERPINC1, SULT1A3, ANXA2, CD79A, CD40LG, F10
45rivaroxaban45 1111.6SERPINC1, F2, F3, F10
46ancrod4510.5F5, F10, F2, SERPINC1
47fluorescein45 1111.5F10, CD40LG, F3, SERPINC1, F5
48organon4510.5F10, F3, F2, SERPINC1
49tinzaparin45 1111.4SERPINC1, F3, F10, TNXA
50coumarin45 2 50 2413.2F5, F10, F3, SERPINC1, F2

GO Terms for genes affiliated with Antiphospholipid Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.5CD79A, CD40LG, ANXA5, HLA-DRB4
2extracellular spaceGO:00561510.4ADAMTS13, APOH, F8, F5, CD40LG, F3
3intrinsic to external side of plasma membraneGO:03123310.2F10, F3

Biological processes related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.7SERPINC1, F8, F5, F10, PROCR, ANXA5
2blood coagulation, intrinsic pathwayGO:00759710.7F2, F10, F8, APOH
3platelet activationGO:03016810.6F8, F5, CD40LG, F2, ADAMTS13
4negative regulation of coagulationGO:05081910.6ANXA5, PROCR
5blood coagulation, extrinsic pathwayGO:00759810.5F3, F10
6negative regulation of fibrinolysisGO:05191810.5APOH, F2
7B cell proliferationGO:04210010.5CD79A, CD40LG
8peptidyl-glutamic acid carboxylationGO:01718710.4F2, F10
9positive regulation of blood coagulationGO:03019410.2F2, APOH

Molecular functions related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipase inhibitor activityGO:00485910.5ANXA5, ANXA2

Products for genes affiliated with Antiphospholipid Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antiphospholipid Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet