APS
MCID: ANT006
MIFTS: 66

Antiphospholipid Syndrome (APS) malady

Genetic diseases, Rare diseases, Immune diseases categories
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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 hughes syndrome, is related to purpura and retinal artery occlusion, and has symptoms including An important gene associated with Antiphospholipid Syndrome is ATPLS (antiphospholipid syndrome, familial), and among its related pathways are Selected targets of HNF1 and Collagen biosynthesis and modifying enzymes. The compounds inogatran and ecarin 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:8 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: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:65 Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), or often also Hughes... more...

Description from OMIM:46 107320

Aliases & Classifications for Antiphospholipid Syndrome

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Antiphospholipid Syndrome, Aliases & Descriptions:

Name: Antiphospholipid Syndrome 8 42 22 21 43 10 44 62
Hughes Syndrome 42 21 43 62
Antiphospholipid Antibody Syndrome 8 42 21
Familial Antiphospholipid Syndrome 42 62
Anti-Phospholipid Syndrome 21 62
 
Anti-Phospholipid Antibody Syndrome 62
Antiphospholipid Syndrome, Familial 46
Lupus Anticoagulant, Familial 42
Aps 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:2988
NCIt39 C61283
ICD9CM27 289.81
MeSH34 D016736
OMIM46 107320

Related Diseases for Antiphospholipid Syndrome

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

(show top 50)    (show all 328)
idRelated DiseaseScoreTop Affiliating Genes
1purpura31.3ADAMTS13
2retinal artery occlusion31.2APOH
3syphilis31.2APOH
4coronary thrombosis31.0F3
5sneddon syndrome31.0APOH
6branch retinal artery occlusion30.9F5
7hypertension30.8F5, MTHFR, F2
8patent foramen ovale30.8F5
9eclampsia30.8MTHFR
10hellp syndrome30.8APOH, ADAMTS13, MTHFR, F5
11thrombophlebitis30.7F8, APOH
12sagittal sinus thrombosis30.7F5
13lupus erythematosus30.7F2, APOH, F3, ANXA5, F5, CD40LG
14thrombocytosis30.6F3, F2
15hepatitis30.6F2, F8, CD40LG
16hemolytic anemia30.6F3, ADAMTS13, APOH, CFH
17vasculitis30.6F2, APOH, CD40LG
18vascular disease30.5APOH, F3, MTHFR, F5
19retinal vascular occlusion30.5APOH, F5
20cerebrovascular disease30.5MTHFR, APOH
21cardiac tamponade30.4F8
22cryoglobulinemia30.4APOH, CD40LG
23lupus nephritis30.4CD40LG, ADAMTS13, APOH
24autoimmune hepatitis30.4CD40LG, F2
25peripheral vascular disease30.3F3, MTHFR
26connective tissue disease30.3APOH, ADAMTS13
27sepsis30.3F2, ADAMTS13, F3, F5
28antithrombin iii deficiency30.2F2, APOH, MTHFR, F5
29retinal vein occlusion30.2APOH, MTHFR, F5
30factor x deficiency30.1F2, F3, F5
31thromboembolism30.1F2, APOH, F3, MTHFR, F8, F5
32pulmonary embolism30.1F2, APOH, F3, MTHFR, F5
33venous thrombosis30.0F2, APOH, F3, MTHFR, F8, F5
34liver cirrhosis30.0F2, ADAMTS13, F3
35atherosclerosis29.9APOH, F3, ANXA5, MTHFR, CD40LG
36systemic lupus erythematosus29.9F2, CFH, APOH, ADAMTS13, F3, ANXA5
37portal vein thrombosis29.9F2, MTHFR, F8, F5
38protein c deficiency29.8F2, APOH, MTHFR, F5
39hepatitis c29.8F2, ANXA5, F8, CD40LG
40hyperhomocysteinemia29.8F2, APOH, MTHFR, F8, F5
41protein s deficiency29.8APOH, F2, F3, MTHFR, F5, F8
42disseminated intravascular coagulation29.7F2, ADAMTS13, F3, F8, F5
43rheumatoid arthritis29.7APOH, ANXA5, MTHFR, CD40LG
44myocardial infarction29.5CFH, ADAMTS13, F3, ANXA5, MTHFR, F8
45pregnancy loss29.4CD40LG, F5, F8, MTHFR, ANXA5, F3
46thrombophilia29.3MTHFR, ANXA5, F3, APOH, F2, F8
47thrombocytopenia29.1CD40LG, F5, F8, ANXA5, F3, ADAMTS13
48pre-eclampsia28.7APOH, F2, F5, F8, MTHFR, ANXA5
49catastrophic antiphospholipid syndrome11.1
50endotheliitis10.6

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



Diseases related to antiphospholipid syndrome

Symptoms for Antiphospholipid Syndrome

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Clinical features from OMIM:

107320

HPO human phenotypes related to Antiphospholipid Syndrome:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autoimmune thrombocytopenia HP:0001973
3 arterial thrombosis HP:0004420
4 venous thrombosis HP:0004936

Drugs & Therapeutics for Antiphospholipid Syndrome

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Drug clinical trials:

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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:

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

Animal Models for Antiphospholipid Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3F2, F3, MTHFR, F5, CD40LG
2MP:00028737.9ANXA5, F3, ADAMTS13, CFH, F2
3MP:00053977.8F2, CFH, ADAMTS13, F3, F8, CD40LG
4MP:00036317.6F2, CFH, F3, MTHFR, F5, CD40LG
5MP:00053877.0F2, CFH, ADAMTS13, F3, ANXA5, F8
6MP:00053766.8CD40LG, F2, CFH, APOH, ADAMTS13, F3
7MP:00107686.7F2, CFH, APOH, ADAMTS13, F3, MTHFR

Publications for Antiphospholipid Syndrome

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Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1238)
idTitleAuthorsYear
1
Antiphospholipid antibodies in localized scleroderma: the potential role of screening tests for the detection of antiphospholipid syndrome. (25097470)
2014
2
Multiple osteonecrotic lesions mimicking a piano keyboard in the spine of a patient with catastrophic antiphospholipid syndrome. (24838647)
2014
3
Study of the fibrinolytic process in a patient with antiphospholipid syndrome. (24418942)
2014
4
The pathogenesis of the antiphospholipid syndrome. (23758255)
2013
5
HELLP syndrome and its relation with the antiphospholipid syndrome. (24333078)
2013
6
Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome. (24356613)
2013
7
Ocular manifestations in a newborn from a pregnancy complicated by an antiphospholipid syndrome--a case report. (24273913)
2013
8
A case of catastrophic antiphospholipid syndrome, which presented an acute interstitial pneumonia-like image on chest CT scan. (23553659)
2013
9
Top 10 clinical research developments in antiphospholipid syndrome. (24014256)
2013
10
Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome. (22559912)
2013
11
Primary antiphospholipid syndrome manifesting as partial status epilepticus. (23545615)
2013
12
8th International Congress on Autoimmunity: new perspectives for refractory catastrophic antiphospholipid syndrome. (23078059)
2012
13
Catastrophic antiphospholipid syndrome in a patient with V Leiden variant. (23319991)
2012
14
Symmetrical peripheral gangrene: a rare presentation of antiphospholipid syndrome. (22042628)
2012
15
Studies of microparticles in patients with the antiphospholipid syndrome (APS). (22635239)
2012
16
The management of stroke in antiphospholipid syndrome. (22109663)
2012
17
Vaccine model of antiphospholipid syndrome induced by tetanus vaccine. (22235053)
2012
18
Republished review: Ocular manifestations of the antiphospholipid syndrome. (21705776)
2011
19
Perioperative bridging therapy with low molecular weight heparin for patients with inherited thrombophilia and antiphospholipid syndrome on long-term acenokumarol therapy. (21076281)
2011
20
Pulmonary thromboembolism as the initial manifestation in a child with antiphospholipid syndrome in the emergency department. (21378521)
2011
21
Endothelium-dependent and independent dilation capability of peripheral arteries in patients with systemic lupus erythematosus and antiphospholipid syndrome. (21813059)
2011
22
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. (20652968)
2010
23
Clinical and immunoserological characteristics of the transition from primary to overlap antiphospholipid syndrome. (20685773)
2010
24
Portal cavernoma in a patient with Crohn's disease associated with factor V Leiden mutation and antiphospholipid syndrome. (21188340)
2010
25
False-positive tests for heparin-induced thrombocytopenia in patients with antiphospholipid syndrome and systemic lupus erythematosus: a rebuttal. (20345710)
2010
26
Antiphospholipid syndrome. (20870361)
2010
27
Antiphospholipid syndrome and homozygous factor V Leiden mutation in a young patient with Libman-Sacks endocarditis and stroke. (20800139)
2010
28
Catastrophic antiphospholipid syndrome complicated by cardiogenic shock - a case report]. (19650000)
2009
29
STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome. (19605742)
2009
30
New approaches for managing antiphospholipid syndrome. (19252521)
2009
31
Massive cerebrovascular infarct due to the catastrophic antiphospholipid syndrome in a patient with idiopathic thrombocytopenic purpura. (19617232)
2009
32
Reversible posterior leukoencephalopathy syndrome in catastrophic antiphospholipid syndrome. (17565204)
2007
33
Revised classification criteria for antiphospholipid syndrome and the thrombotic risk in patients with autoimmune diseases. (17596131)
2007
34
Localized retinal ischemia as an ocular manifestation of primary antiphospholipid syndrome. (17508052)
2007
35
Induction of antiphospholipid antibodies and antiphospholipid syndrome-like autoimmunity in naive mice with antibody against human parvovirus B19 VP1 unique region protein. (17451664)
2007
36
Unusual thrombotic manifestations secondary to antiphospholipid syndrome and hepatic fascioliasis. (15908004)
2006
37
Impaired factor XIIa-dependent activation of fibrinolysis in treated antiphospholipid syndrome gestations developing late-pregnancy complications. (16458646)
2006
38
Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome]. (16320685)
2005
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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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

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Pathways related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6F8, APOH
2
Show member pathways
8.7F2, F3, F8, F5
3
Show member pathways
8.7F2, F3, F8, F5
4
Show member pathways
8.7F5, F8, F3, F2
5
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
8.2F5, F8, F3, CFH, F2

Compounds for genes affiliated with Antiphospholipid Syndrome

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Compounds related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1inogatran449.7F2, F3, F5
2ecarin449.7F2, F3, F5
3spectrozyme449.7F5, F3, F2
4danaparoid449.6F3, F5, F2
5ximelagatran44 1110.6F2, F3, F5
6heparinoids449.6F2, F5, F3
7fondaparinux449.6F5, F2, F3
8acenocoumarol44 50 1111.6F5, F3, F2
9bivalirudin44 1110.5F2, F5, F3
10argatroban44 1110.5F5, F2, F3
11dextran sulfate449.5F3, CD40LG, F5, APOH
12ppack449.4F2, CD40LG, F3
13protamine sulfate449.4F3, F2, F5
14coumarins449.4F5, APOH, F2, F3
15kininogen449.3APOH, F5, F3, F2
16gamma-carboxyglutamic acid449.3F2, F3, F5
17vitamin b12449.2CD40LG, APOH, MTHFR, F5
18hydroxyethyl starch449.2F2, F3, F8
19tranexamic acid44 1110.1F8, F3, F2
20rituximab44 50 1111.1APOH, ADAMTS13, CD40LG, F8
21cacl2448.9F5, F8, F3
22tirofiban44 119.8F2, CD40LG, F3, ANXA5
23abciximab44 119.8ANXA5, CD40LG, F3, F2
24kaolin448.8F3, F5, F2, APOH, F8
25hirudin448.7F5, F3, F8, F2, CD40LG
26ristocetin448.7F8, F3, F2, F5, ADAMTS13
27desmopressin44 61 28 1111.7F3, F5, F8, ADAMTS13, F2
28polyethylene glycol448.6F2, F5, CD40LG, F8
29epinephrine44 24 1110.6F5, F8, F3, CD40LG, F2
30polysaccharide448.5CFH, CD40LG, F8, F5, F3
31endotoxin448.5ADAMTS13, F8, F5, CD40LG, APOH, F3
32acetaminophen44 2 50 24 1112.4ANXA5, F8, F2, F5
33cyclophosphamide44 50 1110.4ADAMTS13, APOH, F3, MTHFR, F5, F8
34warfarin44 50 24 1111.3F5, F8, F2, MTHFR, F3, APOH
35phosphatidylethanolamine44 119.3F8, F5, F2, APOH, ANXA5
36homocysteine44 249.3F8, MTHFR, F3, APOH, F2, F5
37phosphatidylcholine448.2APOH, F5, F8, ANXA5, F2
38aspartate448.1CD40LG, F2, F3, MTHFR, F5, F8
39phospholipid447.9APOH, F3, ANXA5, F8, F5, F2
40aspirin44 50 28 2410.9F2, F5, F8, MTHFR, F3, APOH
41lactate447.9APOH, ANXA5, F8, F5, CD40LG, F2
42alanine447.7F3, F5, F8, MTHFR, CFH, F2
43phosphatidylserine44 28 119.6APOH, F5, ANXA5, F3, F2, F8
44vegf447.6F8, APOH, CD40LG, F5, ANXA5, F3
45creatinine447.5F3, MTHFR, F8, F5, CD40LG, ADAMTS13
46serine447.3F3, CD40LG, F5, F2, CFH, ADAMTS13
47cardiolipin44 118.2APOH, CD40LG, F5, F8, ANXA5, CFH
48cyclosporin a44 28 619.2ANXA5, F8, CD40LG, MTHFR, F2, CFH
49heparin44 28 24 119.2CD40LG, F5, F8, MTHFR, ANXA5, F3
50fibrinogen446.2F8, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.5F5, F8
2extracellular spaceGO:0056156.8CD40LG, F2, CFH, APOH, ADAMTS13, F3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:0519189.7APOH, F2
2blood circulationGO:0080159.6F5, MTHFR
3positive regulation of blood coagulationGO:0301949.6F2, APOH
4blood coagulation, intrinsic pathwayGO:0075979.1F2, APOH, F8
5acute-phase responseGO:0069539.0F8, F2
6platelet activationGO:0301688.4CD40LG, F5, F8, ADAMTS13, F2
7blood coagulationGO:0075967.9F2, F3, ANXA5, F8, F5

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.5F5, F8
2phospholipid bindingGO:0055438.9ANXA5, F3, APOH
3serine-type endopeptidase activityGO:0042528.7F5, F8, F2

Products for genes affiliated with Antiphospholipid Syndrome

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Sources for Antiphospholipid Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet