MCID: ANT006
MIFTS: 55

Antiphospholipid Syndrome malady

Genetic diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Antiphospholipid Syndrome

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Antiphospholipid Syndrome, Aliases & Descriptions:

Name: Antiphospholipid Syndrome 9 41 21 42 11 43 60
Antiphospholipid Antibody Syndrome 9 41 21
Hughes Syndrome 41 21 42
Familial Antiphospholipid Syndrome 41 60
 
Anti-Phospholipid Syndrome 21 22
Acromegaloid Facial Appearance Syndrome 60
Lupus Anticoagulant, Familial 41
Aps 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:2988
NCIt38 C61283
MeSH33 D016736
ICD9CM27 289.81

Summaries for Antiphospholipid Syndrome

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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 based summary: Antiphospholipid Syndrome, also known as antiphospholipid antibody syndrome, is related to retinal artery occlusion and purpura. An important gene associated with Antiphospholipid Syndrome is APOH (apolipoprotein H (beta-2-glycoprotein I)), and among its related pathways are Selected targets of HNF1 and Hemostasis. The compounds dextran sulfate and ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and testes, and related mouse phenotypes are integument and normal.

Disease Ontology:9 A hypersensitivity reaction type ii 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:41 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:42 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...

Related Diseases for Antiphospholipid Syndrome

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Diseases in the Antiphospholipid Syndrome family:

Antiphospholipid Syndrome, Familial

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

(show top 50)    (show all 336)
idRelated DiseaseScoreTop Affiliating Genes
1retinal artery occlusion31.3APOH
2purpura31.3ADAMTS13
3syphilis31.2APOH
4coronary thrombosis31.0F3
5sneddon syndrome31.0APOH
6eclampsia31.0MTHFR
7branch retinal artery occlusion30.9F5
8hellp syndrome30.9APOH, ADAMTS13, MTHFR, F5
9patent foramen ovale30.8F5
10thrombophlebitis30.8F8, APOH
11thrombotic thrombocytopenic purpura30.8ADAMTS13, CFH
12budd-chiari syndrome30.7APOH, MTHFR, F5
13sagittal sinus thrombosis30.7F5
14hemolytic anemia30.7CFH, APOH, ADAMTS13, F3
15lupus erythematosus30.6F2, APOH, F3, ANXA5, F5, CD40LG
16nonarteritic anterior ischemic optic neuropathy30.6MTHFR, F5
17vascular disease30.5APOH, F3, MTHFR, F5
18cerebrovascular disease30.5MTHFR, APOH
19cardiac tamponade30.5F8
20retinal vascular occlusion30.5APOH, F5
21hepatitis30.5F2, F8, CD40LG
22lupus nephritis30.5CD40LG, ADAMTS13, APOH
23vasculitis30.5CD40LG, APOH, F2
24cryoglobulinemia30.5APOH, CD40LG
25thrombocytosis30.5F3, F2
26peripheral vascular disease30.4F3, MTHFR
27connective tissue disease30.3APOH, ADAMTS13
28retinal vein occlusion30.2F5, MTHFR, APOH
29atherosclerosis30.1APOH, F3, ANXA5, MTHFR, CD40LG
30factor x deficiency30.0F5, F3, F2
31systemic lupus erythematosus30.0F2, CFH, APOH, ADAMTS13, F3, ANXA5
32pulmonary embolism30.0F2, APOH, F3, MTHFR, F5
33autoimmune hepatitis29.9CD40LG, F2
34hepatitis c29.8F2, ANXA5, F8, CD40LG
35liver cirrhosis29.8F3, ADAMTS13, F2
36myocardial infarction29.8CFH, ADAMTS13, F3, ANXA5, MTHFR, F8
37portal vein thrombosis29.8F2, MTHFR, F8, F5
38disseminated intravascular coagulation29.8F2, ADAMTS13, F3, F8, F5
39hyperhomocysteinemia29.7F2, APOH, MTHFR, F8, F5
40protein s deficiency29.7APOH, F2, F3, MTHFR, F5, F8
41protein c deficiency29.7F2, APOH, MTHFR, F5
42rheumatoid arthritis29.7HLA-DRB4, APOH, ANXA5, MTHFR, CD40LG
43thrombophilia29.4MTHFR, ANXA5, F3, APOH, F2, F8
44thrombocytopenia29.2CD40LG, F5, F8, ANXA5, F3, ADAMTS13
45catastrophic antiphospholipid syndrome11.1
46cerebritis10.6
47endotheliitis10.6
48young hughes syndrome10.5
49retinitis10.5
50hepatitis e10.5CD40LG

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



Diseases related to antiphospholipid syndrome

Symptoms for Antiphospholipid Syndrome

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Drugs & Therapeutics for Antiphospholipid Syndrome

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Drug clinical trials:

Search ClinicalTrials for Antiphospholipid Syndrome

Search NIH Clinical Center for Antiphospholipid Syndrome

Genetic Tests for Antiphospholipid Syndrome

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Genetic tests related to Antiphospholipid Syndrome:

id Genetic test Affiliating Genes
1 Antiphospholipid Syndrome22

Anatomical Context for Antiphospholipid Syndrome

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MalaCards organs/tissues related to Antiphospholipid Syndrome:

31
Brain, Endothelial, Testes, Monocytes, Liver, T cells, Bone, Skin, Heart, Bone marrow, Placenta, Neutrophil, Kidney, Lung, Pituitary, Spinal cord, Thyroid, Adrenal gland, Breast

Animal Models for Antiphospholipid Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1F2, F3, MTHFR, F5, CD40LG
2MP:00028737.9ANXA5, F3, ADAMTS13, CFH, F2
3MP:00053977.7F2, CFH, ADAMTS13, F3, F8, CD40LG
4MP:00036317.5F2, CFH, F3, MTHFR, F5, CD40LG
5MP:00053877.1F2, CFH, ADAMTS13, F3, ANXA5, F8
6MP:00053766.8CD40LG, F2, CFH, APOH, ADAMTS13, F3
7MP:00107686.8F2, CFH, APOH, ADAMTS13, F3, MTHFR

Publications for Antiphospholipid Syndrome

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Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1271)
idTitleAuthorsYear
1
Detection of circulating immune complexes of human IgA and beta 2 glycoprotein I in patients with antiphospholipid syndrome symptomatology. (25865263)
2015
2
Antiphospholipid antibodies in localized scleroderma: the potential role of screening tests for the detection of antiphospholipid syndrome. (25097470)
2014
3
Antiphospholipid syndrome and Langerhans cell histiocytosis: An exceptional association. (25867157)
2014
4
Multiple osteonecrotic lesions mimicking a piano keyboard in the spine of a patient with catastrophic antiphospholipid syndrome. (24838647)
2014
5
Study of the fibrinolytic process in a patient with antiphospholipid syndrome. (24418942)
2014
6
The pathogenesis of the antiphospholipid syndrome. (23758255)
2013
7
HELLP syndrome and its relation with the antiphospholipid syndrome. (24333078)
2013
8
Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome. (24356613)
2013
9
Ocular manifestations in a newborn from a pregnancy complicated by an antiphospholipid syndrome--a case report. (24273913)
2013
10
A case of catastrophic antiphospholipid syndrome, which presented an acute interstitial pneumonia-like image on chest CT scan. (23553659)
2013
11
Top 10 clinical research developments in antiphospholipid syndrome. (24014256)
2013
12
Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome. (22559912)
2013
13
8th International Congress on Autoimmunity: new perspectives for refractory catastrophic antiphospholipid syndrome. (23078059)
2012
14
Catastrophic antiphospholipid syndrome in a patient with V Leiden variant. (23319991)
2012
15
Symmetrical peripheral gangrene: a rare presentation of antiphospholipid syndrome. (22042628)
2012
16
Studies of microparticles in patients with the antiphospholipid syndrome (APS). (22635239)
2012
17
The management of stroke in antiphospholipid syndrome. (22109663)
2012
18
Vaccine model of antiphospholipid syndrome induced by tetanus vaccine. (22235053)
2012
19
Republished review: Ocular manifestations of the antiphospholipid syndrome. (21705776)
2011
20
Perioperative bridging therapy with low molecular weight heparin for patients with inherited thrombophilia and antiphospholipid syndrome on long-term acenokumarol therapy. (21076281)
2011
21
Pulmonary thromboembolism as the initial manifestation in a child with antiphospholipid syndrome in the emergency department. (21378521)
2011
22
Endothelium-dependent and independent dilation capability of peripheral arteries in patients with systemic lupus erythematosus and antiphospholipid syndrome. (21813059)
2011
23
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. (20652968)
2010
24
Clinical and immunoserological characteristics of the transition from primary to overlap antiphospholipid syndrome. (20685773)
2010
25
Portal cavernoma in a patient with Crohn's disease associated with factor V Leiden mutation and antiphospholipid syndrome. (21188340)
2010
26
False-positive tests for heparin-induced thrombocytopenia in patients with antiphospholipid syndrome and systemic lupus erythematosus: a rebuttal. (20345710)
2010
27
Antiphospholipid syndrome. (20870361)
2010
28
Antiphospholipid syndrome and homozygous factor V Leiden mutation in a young patient with Libman-Sacks endocarditis and stroke. (20800139)
2010
29
Catastrophic antiphospholipid syndrome complicated by cardiogenic shock - a case report]. (19650000)
2009
30
STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome. (19605742)
2009
31
New approaches for managing antiphospholipid syndrome. (19252521)
2009
32
Massive cerebrovascular infarct due to the catastrophic antiphospholipid syndrome in a patient with idiopathic thrombocytopenic purpura. (19617232)
2009
33
Reversible posterior leukoencephalopathy syndrome in catastrophic antiphospholipid syndrome. (17565204)
2007
34
Revised classification criteria for antiphospholipid syndrome and the thrombotic risk in patients with autoimmune diseases. (17596131)
2007
35
Localized retinal ischemia as an ocular manifestation of primary antiphospholipid syndrome. (17508052)
2007
36
Induction of antiphospholipid antibodies and antiphospholipid syndrome-like autoimmunity in naive mice with antibody against human parvovirus B19 VP1 unique region protein. (17451664)
2007
37
Unusual thrombotic manifestations secondary to antiphospholipid syndrome and hepatic fascioliasis. (15908004)
2006
38
Impaired factor XIIa-dependent activation of fibrinolysis in treated antiphospholipid syndrome gestations developing late-pregnancy complications. (16458646)
2006
39
Autoantibodies against EPCR are found in antiphospholipid syndrome and are a risk factor for fetal death. (15150078)
2004
40
Treatment outcome in women suffering from recurrent miscarriages and antiphospholipid syndrome]. (14669420)
2003
41
Thalamo-mesencephalic infarction as a single manifestation of combined factor V Leiden and antiphospholipid syndrome. (12532944)
2002
42
Primary antiphospholipid syndrome presenting with abdominal angina and splenic infarction. (12111088)
2002
43
Primary antiphospholipid syndrome and cerebral atrophy: a rare association? (10372845)
1999
44
Systemic lupus erythematosus-associated catastrophic antiphospholipid syndrome occurring after typhoid fever: a possible role of Salmonella lipopolysaccharide in the occurrence of diffuse vasculopathy-coagulopathy. (10323464)
1999
45
Relationship between clinical features and binding domains of anti-prothrombin autoantibodies in patients with systemic lupus erythematosus and antiphospholipid syndrome. (10602450)
1999
46
Increased levels of tissue factor mRNA in mononuclear blood cells of patients with primary antiphospholipid syndrome. (10613637)
1999
47
Clinical manifestations of the antiphospholipid syndrome in patients with systemic lupus erythematosus associate more strongly with anti-beta 2-glycoprotein-I than with antiphospholipid antibodies. (8991989)
1995
48
Postpartum myocardial infarction in a patient with antiphospholipid syndrome. (8155200)
1994
49
What criteria for the diagnosis of antiphospholipid syndrome?]. (8191094)
1993
50
Antiphospholipid syndrome]. (1398731)
1992

Variations for Antiphospholipid Syndrome

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Expression for genes affiliated with Antiphospholipid Syndrome

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Search GEO for disease gene expression data for Antiphospholipid Syndrome.

Pathways for genes affiliated with Antiphospholipid Syndrome

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Pathways related to Antiphospholipid Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5F5, F8, F3, F2
2
Show member pathways
8.5F2, F3, F8, F5
3
Show member pathways
8.5F2, F3, F8, F5
4
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.1F5, F8, F3, CFH, F2

Compounds for genes affiliated with Antiphospholipid Syndrome

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Compounds related to Antiphospholipid Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1dextran sulfate439.6F5, APOH, F3, CD40LG
2ticlopidine43 1210.5F3, ADAMTS13, APOH
3inogatran439.4F5, F3, F2
4ecarin439.4F3, F5, F2
5spectrozyme439.4F5, F3, F2
6danaparoid439.4F2, F3, F5
7ximelagatran43 1210.4F2, F5, F3
8vitamin b12439.4CD40LG, APOH, MTHFR, F5
9heparinoids439.4F3, F2, F5
10fondaparinux439.3F5, F2, F3
11acenocoumarol43 49 1211.3F3, F5, F2
12bivalirudin43 1210.3F2, F5, F3
13rituximab43 49 1211.2APOH, ADAMTS13, CD40LG, F8
14argatroban43 1210.2F5, F2, F3
15ppack439.2F2, CD40LG, F3
16coumarins439.2F3, F2, APOH, F5
17protamine sulfate439.1F3, F2, F5
18kininogen439.1F5, APOH, F3, F2
19hydroxyethyl starch439.1F2, F3, F8
20cacl2439.0F5, F8, F3
21tranexamic acid43 129.9F8, F3, F2
22tirofiban43 129.8ANXA5, CD40LG, F2, F3
23abciximab43 129.8F2, ANXA5, CD40LG, F3
24polysaccharide438.8CFH, CD40LG, F8, F5, F3
25endotoxin438.7ADAMTS13, F8, F5, CD40LG, APOH, F3
26kaolin438.7F3, F5, F8, F2, APOH
27cyclophosphamide43 49 1210.6ADAMTS13, APOH, F5, F8, F3, MTHFR
28hirudin438.6F5, F3, F8, F2, CD40LG
29ristocetin438.6F3, F2, F5, F8, ADAMTS13
30desmopressin43 59 28 1211.6F3, F5, F8, ADAMTS13, F2
31polyethylene glycol438.5F2, F5, CD40LG, F8
32epinephrine43 24 1210.5CD40LG, F3, F2, F5, F8
33acetaminophen43 2 49 24 1212.4ANXA5, F8, F2, F5
34phosphatidylethanolamine43 129.3F8, F5, F2, APOH, ANXA5
35phosphatidylcholine438.3ANXA5, F5, F2, APOH, F8
36warfarin43 49 24 1211.2F5, F8, F2, MTHFR, F3, APOH
37homocysteine43 249.2F8, MTHFR, F3, APOH, F2, F5
38aspartate438.1F3, F8, MTHFR, F5, CD40LG, F2
39phospholipid438.0F3, ANXA5, F8, F5, F2, APOH
40vegf438.0F8, APOH, CD40LG, F5, ANXA5, F3
41lactate437.9ANXA5, F8, F5, CD40LG, F2, APOH
42aspirin43 49 28 2410.9F2, F5, F8, MTHFR, CD40LG, F3
43phosphatidylserine43 28 129.7APOH, F5, ANXA5, F3, F2, F8
44alanine437.7F5, F8, MTHFR, CFH, F3, F2
45creatinine437.5F5, CD40LG, F8, APOH, MTHFR, F3
46cyclosporin a43 28 599.3ANXA5, F8, ADAMTS13, CFH, F2, MTHFR
47cardiolipin43 128.3APOH, CD40LG, F8, ANXA5, F2, CFH
48serine437.3F5, F2, CD40LG, CFH, F3, ADAMTS13
49heparin43 28 24 129.5CD40LG, F5, F8, MTHFR, ANXA5, F3
50fibrinogen436.5F8, MTHFR, ANXA5, F3, ADAMTS13, APOH

GO Terms for genes affiliated with Antiphospholipid Syndrome

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Cellular components related to Antiphospholipid Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.6F5, F8
2external side of plasma membraneGO:00098978.7CD40LG, ANXA5, HLA-DRB4
3extracellular spaceGO:00056157.0CD40LG, F2, CFH, APOH, ADAMTS13, F3

Biological processes related to Antiphospholipid Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1blood circulationGO:00080159.7F5, MTHFR
2negative regulation of fibrinolysisGO:00519189.4APOH, F2
3positive regulation of blood coagulationGO:00301949.3F2, APOH
4blood coagulation, intrinsic pathwayGO:00075979.0F2, APOH, F8
5acute-phase responseGO:00069538.8F8, F2
6platelet activationGO:00301688.2CD40LG, F5, F8, ADAMTS13, F2
7blood coagulationGO:00075968.0F2, F3, ANXA5, F8, F5

Molecular functions related to Antiphospholipid Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.6F5, F8
2phospholipid bindingGO:00055439.3ANXA5, F3, APOH
3serine-type endopeptidase activityGO:00042528.7F2, F8, F5
4protein bindingGO:00055156.6F2, HLA-DRB4, CFH, APOH, ADAMTS13, F3

Products for genes affiliated with Antiphospholipid Syndrome

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Sources for Antiphospholipid Syndrome

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3CDC
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25ICD10
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29KEGG
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38NCIt
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