APS
MCID: ANT006
MIFTS: 67

Antiphospholipid Syndrome (APS) malady

Immune diseases, Genetic diseases categories

Summaries for Antiphospholipid Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 lupus erythematosus and systemic lupus erythematosus. 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 brain, endothelial and testes, 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:42 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:43 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:63 Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS or), often also Hughes... more...

Description from OMIM:46 107320

Aliases & Classifications for Antiphospholipid Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

antiphospholipid syndrome 8 42 22 21 43 10 44 60
antiphospholipid antibody syndrome 8 42 21
hughes syndrome 42 21 43
antiphospholipid syndrome, familial 46
familial antiphospholipid syndrome 42
lupus anticoagulant, familial 42
anti-phospholipid syndrome 21
aps 42


External Ids:

Disease Ontology8 DOID:2988
NCIt39 C61283
MeSH34 D016736
OMIM46 107320

Related Diseases for Antiphospholipid Syndrome

About this section
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 396)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus31.3SERPINC1, F2, F3, CD79A, CD40LG, ANXA5
2systemic lupus erythematosus31.2ADAMTS13, SULT1A3, CFH, F2, F3, CD79A
3hypertension30.7F2, CD79A, MTHFR, F5
4hellp syndrome30.7ADAMTS13, SERPINC1, MTHFR, F5, APOH
5thrombocytopenia30.7ADAMTS13, SERPINC1, CFH, F2, F3, CD79A
6myocardial infarction30.6ADAMTS13, SERPINC1, SULT1A3, CFH, F3, ANXA5
7hepatitis30.6F2, CD40LG, F10, F8
8endocarditis30.6F10
9stroke, ischemic30.6F2, F5
10purpura30.5ADAMTS13, SERPINC1, CD79A
11hemolytic anemia30.5ADAMTS13, CFH, F3, APOH
12thrombophilia30.4SERPINC1, F2, F3, ANXA5, PROCR, F10
13vascular disease30.4SERPINC1, SULT1A3, F3, MTHFR, F5, APOH
14autoimmune hemolytic anemia30.4CD79A, CD40LG
15glomerulonephritis30.4CFH, CD79A, CD40LG
16pancreatitis30.4SULT1A3
17pulmonary embolism30.3SERPINC1, F2, F3, F10, MTHFR, F5
18atherosclerosis30.3SERPINC1, SULT1A3, F3, CD40LG, ANXA5, ANXA2
19protein s deficiency30.3SERPINC1, F2, F3, MTHFR, F5, F8
20syphilis30.3CD79A, APOH
21coronary thrombosis30.3SERPINC1, F3
22leukemia30.3CD79A, CD40LG, ANXA5, ANXA2, F10, MTHFR
23thrombocytosis30.3SERPINC1, F2, F3, F10
24lung cancer30.3ANXA5
25retinal artery occlusion30.3APOH
26hepatitis c30.3F2, CD40LG, ANXA5, F8
27thyroiditis30.2CD79A
28acute myocardial infarction30.2ADAMTS13, SERPINC1, SULT1A3, F3, F10
29antithrombin iii deficiency30.2SERPINC1, F2, F10, MTHFR, F5, APOH
30hyperhomocysteinemia30.2SERPINC1, F2, MTHFR, F5, F8, APOH
31disseminated intravascular coagulation30.2ADAMTS13, SERPINC1, F2, F3, ANXA2, F10
32pneumonia30.2CD79A, ANXA5
33vasculitis30.2SULT1A3, F2, CD79A, CD40LG, APOH
34dementia30.2ANXA5
35neuropathy30.2CD79A
36cerebrovascular disease30.1MTHFR, APOH
37iga glomerulonephritis30.1CFH, CD79A, CD40LG, F10
38colon cancer30.1ANXA5, ANXA2, MTHFR
39pre-eclampsia30.0ADAMTS13, SERPINC1, F2, F3, ANXA5, F10
40thrombophlebitis30.0F8, APOH
41portal vein thrombosis30.0SERPINC1, F2, MTHFR, F5, F8
42hepatitis a30.0F2, F8
43eclampsia30.0SERPINC1, MTHFR
44patent foramen ovale30.0F5
45arthritis30.0SULT1A3, F10
46rheumatoid arthritis30.0CD79A, CD40LG, ANXA5, ANXA2, F10, MTHFR
47ischemia30.0ADAMTS13, F10
48branch retinal artery occlusion30.0F5
49pancreatic cancer30.0ANXA5, ANXA2
50intracranial thrombosis29.8SERPINC1, F3, MTHFR, F5, F8, APOH

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



Diseases related to antiphospholipid syndrome

Clinical Features for Antiphospholipid Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

107320

Drugs & Therapeutics for Antiphospholipid Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Antiphospholipid Syndrome:

id Genetic test Affiliating Genes
1 Antiphospholipid Syndrome22

Anatomical Context for Antiphospholipid Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Antiphospholipid Syndrome:

32
Brain, Endothelial, Testes, Monocytes, Liver, Skin, Bone, T cells, Bone marrow, Placenta, Heart, Lung, Spinal cord, Pituitary, Breast, Adrenal gland, Kidney, Colon, Whole blood

Animal Models for Antiphospholipid Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1363)
idTitleAuthorsYear
1
Coexistence of renal artery stenosis, primary antiphospholipid syndrome and polycythaemia vera: an exceptional association. (24197551)
2014
2
Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome. (22559912)
2013
3
Lingual thrombosis in a woman with antiphospholipid syndrome. (23313716)
2013
4
Primary Antiphospholipid Syndrome and Pulmonary Hypertension. (23565637)
2013
5
Antiphospholipid syndrome: from pathogenesis to novel immunomodulatory therapies. (23282546)
2013
6
The current standing of diagnosis of antiphospholipid syndrome associated with systemic lupus erythematosus. (23899236)
2013
7
Acute adrenal insufficiency due to primary antiphospholipid antibody syndrome. (24251172)
2013
8
Humeral artery thrombosis simulating an elbow monoarthritis in a woman with primary antiphospholipid syndrome (Hughes syndrome). (23726773)
2013
9
Ischemic peripheral arterial disease and recurrent iliofemoral venous thrombosis in a 24-year-old man with antiphospholipid syndrome. (23461402)
2013
10
Neurological manifestations in patients with antiphospholipid syndrome. (24250929)
2013
11
Are there additional options for the treatment of refractory obstetric antiphospholipid syndrome? (23687066)
2013
12
Deterioration of thromboses in primary antiphospholipid syndrome: TNF-alpha and anti-annexin A5 antibodies. (23163128)
2012
13
Antiphospholipid syndrome patients: the performance of Coagucheck XS in the monitoring of Vitamin K-Antagonists. (22326057)
2012
14
Probable catastrophic antiphospholipid syndrome complicated with primary sclerosing cholangitis. (23107448)
2012
15
Anti-phosphatidylethanolamine antibody, thromboembolic events and the antiphospholipid syndrome. (22796282)
2012
16
Idiopathic mediastinal fibrosis presenting with antiphospholipid antibody syndrome and manifestations suggestive of connective tissue disease. (22426588)
2012
17
High intensity anticoagulation in the prevention of the recurrence of arterial thrombosis in antiphospholipid syndrome: 'PROS' and 'CONS'. (22036827)
2012
18
Identification of miRNAs as potential modulators of tissue factor expression in patients with systemic lupus erythematosus and antiphospholipid syndrome. (21794077)
2011
19
Catastrophic antiphospholipid syndrome in a community-acquired methicillin-resistant Staphylococcus aureus infection: a review of pathogenesis with a case for molecular mimicry. (20920612)
2011
20
Clinical relevance of nitric oxide metabolites and nitrative stress in thrombotic primary antiphospholipid syndrome. (20889602)
2010
21
IRF5 is associated with primary antiphospholipid syndrome, but is not a major risk factor. (20131273)
2010
22
STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome. (19605742)
2009
23
Recovery from catastrophic antiphospholipid syndrome by a plasma exchange procedure: report of four cases and review of the literature. (18835374)
2009
24
Catastrophic antiphospholipid syndrome. (19694227)
2009
25
Relapsing catastrophic antiphospholipid syndrome: report of three cases. (17977582)
2008
26
Clusters of disease manifestations in patients with antiphospholipid syndrome demonstrated by factor analysis. (17432102)
2007
27
Severe limb necrosis: primary thrombotic microangiopathy or "seronegative" catastrophic antiphospholipid syndrome? A diagnostic dilemma. (17256103)
2007
28
Delayed catastrophic antiphospholipid syndrome after massive cerebral infarction. (17565449)
2007
29
An insight into the pathophysiology of thrombosis in antiphospholipid syndrome. (17485284)
2007
30
Catastrophic antiphospholipid syndrome (Asherson's syndrome) associated with cytokeratin 7-positive endometrial cancer. (18210936)
2007
31
Proliferative glomerulonephritis and primary antiphospholipid syndrome. (16830033)
2006
32
Lessons from the catastrophic antiphospholipid syndrome (CAPS) registry. (17138248)
2006
33
Refractory leg infection as an inducer of the catastrophic antiphospholipid syndrome. (15249331)
2004
34
Anti-tissue factor pathway inhibitor activity in subjects with antiphospholipid syndrome is associated with increased thrombin generation. (15339683)
2004
35
Treatment outcome in women suffering from recurrent miscarriages and antiphospholipid syndrome]. (14669420)
2003
36
The catastrophic antiphospholipid syndrome--Asherson's syndrome. (14593307)
2003
37
The association of pure red cell aplasia with the antiphospholipid syndrome. (11787886)
2001
38
Reversal of nonarteritic anterior ischemic optic neuropathy associated with coexisting primary antiphospholipid syndrome and Factor V Leiden mutation. (11336954)
2001
39
Retinal vascular occlusion and primary antiphospholipid syndrome. Report of 2 cases]. (11912840)
2001
40
Coexistence of factor V Leiden and primary antiphospholipid syndrome: a patient with recurrent myocardial infarctions and thrombocytopenia. (11201021)
2000
41
The 4G/5G polymorphism of the type 1 plasminogen activator inhibitor gene and thrombosis in patients with antiphospholipid syndrome. (11037896)
2000
42
The antiphospholipid syndrome during chronic lymphatic leukemia. An association with anti-factor VIII antibodies]. (10528424)
1999
43
Crystal structure of human beta2-glycoprotein I: implications for phospholipid binding and the antiphospholipid syndrome. (10562535)
1999
44
Antiphospholipid antibody syndrome: new insights on thrombogenic mechanisms. (9704667)
1998
45
Catastrophic antiphospholipid antibody syndrome in pediatric systemic lupus erythematosus. (9035002)
1997
46
Prevalence of thrombosis in secondary antiphospholipid-protein syndrome]. (9273202)
1996
47
The antiphospholipid syndrome: when does the presence of antiphospholipid antibodies require therapy? (8668625)
1996
48
Diastolic dysfunction is a feature of the antiphospholipid syndrome. (7732958)
1995
49
Catastrophic antiphospholipid syndrome (CAS): a rare manifestation of the antiphospholipid antibody syndrome. (8299260)
1993
50
Low-dose aspirin for prevention of pregnancy losses in women with primary antiphospholipid syndrome. (8150930)
1993

Genetic Variations for Antiphospholipid Syndrome

About this section

Expression for genes affiliated with Antiphospholipid Syndrome

About this section
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

About this section
Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 52R&D Systems, 49PharmGKB
See all sources

Compounds for genes affiliated with Antiphospholipid Syndrome

About this section
Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 171)
idCompoundScoreTop Affiliating Genes
1homocysteine44 2411.9SULT1A3, F2, F3, APOH, F8, F5
2creatinine4410.9TNXA, APOH, ADAMTS13, SULT1A3, F2, F3
3warfarin44 49 11 2413.9APOH, CD79A, SERPINC1
4aspirin44 49 28 2413.9SERPINC1, SULT1A3, F3, CD79A, CD40LG, F10
5hirudin4410.9F3, F2, SERPINC1, TNXA, F8, F5
6kaolin4410.9F8, F5, F10, F3, F2, APOH
7cardiolipin44 1111.9CFH, F10, CRLS1
8fibrinogen4410.9CFH, F2, F3, CD79A, CD40LG, ANXA5
9heparin44 28 11 2413.9ADAMTS13, MTHFR, APOH, CD79A, CD40LG, ANXA5
10phosphatidylserine44 28 1112.9F2, F3, CD79A, CD40LG, ANXA5, ANXA2
11fondaparinux4410.9F5, F10, F3, F2, SERPINC1, TNXA
12danaparoid4410.9SERPINC1, TNXA, F5, F10, F3, F2
13ecarin4410.9F5, SERPINC1, F2, F3, F10
14bivalirudin44 1111.9TNXA, F2, F5, F10, F3, SERPINC1
15argatroban44 1111.9SERPINC1, F2, F3, F10, F5, TNXA
16ristocetin4410.9F5, F3, F8, F2, SERPINC1, ADAMTS13
17tirofiban44 1111.9F10, ANXA5, CD40LG, SERPINC1, F3, F2
18spectrozyme4410.9SERPINC1, F5, F3, F10, F2
19polysaccharide4410.9SERPINC1, F3, ANXA2, F10, CD40LG, CD79A
20phospholipid4410.9F3, ANXA5, ANXA2, PROCR, F10, F5
21ximelagatran44 1111.9F5, F10, F2, SERPINC1, F3
22gamma-carboxyglutamic acid4410.9F2, F3, PROCR, F10, F5, TNXA
23phosphatidylcholine4410.8F2, F10, ANXA2, ANXA5, F5, CD79A
24endotoxin4410.8ADAMTS13, F3, CD40LG, PROCR, F5, F8
25heparinoids4410.8SERPINC1, F2, F3, F5, F10
26abciximab44 1111.8ANXA5, F3, CD40LG, F2, SERPINC1, F10
27alanine4410.8F8, CFH, F2, CD79A, CD40LG, F3
28desmopressin44 59 28 1113.8F2, F5, ADAMTS13, SERPINC1, F3, F8
29clopidogrel49 44 11 2413.8F2, F3, CD40LG, F10, TNXA, SERPINC1
30coumarins4410.8F10, F3, APOH
31polyethylene glycol4410.8F2, CD40LG, F10, F5, F8, CD79A
32ppack4410.8F2, SERPINC1, CD40LG, F10, F3
33vegf4410.8APOH, SERPINC1, F3, PROCR, ANXA2, ANXA5
34protamine sulfate4410.8F5, SERPINC1, F3, F2, F10
35phosphatidylethanolamine44 1111.8F2, ANXA5, F8, F5, PROCR, APOH
36inogatran4410.8F2, F3, F5, SERPINC1
37protamine4410.8F10, F2, F3, TNXA, SERPINC1, F5
38dermatan sulfate4410.7F3, F5, TNXA, F2, F10, SERPINC1
39serine4410.7F8, F10, PROCR, ADAMTS13
40dextran sulfate4410.7F10, F5, APOH, CD40LG
41citrate4410.7F2, CD79A, F5, SERPINC1, F8, F3
42estrogen4410.7F8, SULT1A3, CD79A, APOH
43nadroparin44 1111.6SERPINC1, TNXA, F3, F10
44arginine4410.6SERPINC1, SULT1A3, ANXA2, CD79A, CD40LG, F10
45rivaroxaban44 1111.6SERPINC1, F2, F3, F10
46ancrod4410.5F5, F10, F2, SERPINC1
47fluorescein44 1111.5F10, CD40LG, F3, SERPINC1, F5
48organon4410.5F10, F3, F2, SERPINC1
49tinzaparin44 1111.4SERPINC1, F3, F10, TNXA
50coumarin44 2 49 2413.2F5, F10, F3, SERPINC1, F2

GO Terms for genes affiliated with Antiphospholipid Syndrome

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antiphospholipid Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet