APS
MCID: ANT006
MIFTS: 65

Antiphospholipid Syndrome (APS) malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Antiphospholipid Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

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 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 endothelial, testes and monocytes, 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).

NINDS:45 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:66 Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS or), often also Hughes... more...

Description from OMIM:48 107320

Aliases & Classifications for Antiphospholipid Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

antiphospholipid syndrome 9 44 23 22 45 11 46 63
antiphospholipid antibody syndrome 9 44 22
hughes syndrome 44 22 45
antiphospholipid syndrome, familial 48
familial antiphospholipid syndrome 44
lupus anticoagulant, familial 44
anti-phospholipid syndrome 22
aps 44


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Disease Ontology9 DOID:2988
NCIt41 C61283
MeSH36 D016736
OMIM48 107320

Related Diseases for Antiphospholipid Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Antiphospholipid Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 326)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus31.2F2, APOH, F3, ANXA5, F5, CD40LG
2systemic lupus erythematosus31.0F2, CFH, APOH, ADAMTS13, F3, ANXA5
3hypertension30.7F5, MTHFR, F2
4hellp syndrome30.7APOH, ADAMTS13, MTHFR, F5
5purpura30.7ADAMTS13
6hepatitis30.6F2, F8, CD40LG
7thromboembolism30.6F2, APOH, F3, MTHFR, F8, F5
8syphilis30.6APOH
9purpura fulminans30.6F5
10retinal artery occlusion30.5APOH
11hemolytic anemia30.5F3, ADAMTS13, APOH, CFH
12venous thrombosis30.5F2, APOH, F3, MTHFR, F8, F5
13thrombocytosis30.4F3, F2
14vascular disease30.4APOH, F3, MTHFR, F5
15coronary thrombosis30.4F3
16pregnancy loss30.4CD40LG, F5, F8, MTHFR, ANXA5, F3
17myocardial infarction30.4CFH, ADAMTS13, F3, ANXA5, MTHFR, F8
18thrombocytopenia30.3CD40LG, F5, F8, ANXA5, F3, ADAMTS13
19branch retinal artery occlusion30.3F5
20atherosclerosis30.3APOH, F3, ANXA5, MTHFR, CD40LG
21patent foramen ovale30.3F5
22pulmonary embolism30.3F2, APOH, F3, MTHFR, F5
23eclampsia30.3MTHFR
24antithrombin iii deficiency30.2F2, APOH, MTHFR, F5
25cerebrovascular disease30.2MTHFR, APOH
26thrombophlebitis30.2F8, APOH
27hepatitis c30.2F2, ANXA5, F8, CD40LG
28autoimmune hepatitis30.2CD40LG, F2
29thrombophilia30.2MTHFR, ANXA5, F3, APOH, F2, F8
30lupus nephritis30.2CD40LG, ADAMTS13, APOH
31protein s deficiency30.2APOH, F2, F3, MTHFR, F5, F8
32vasculitis30.2F2, APOH, CD40LG
33disseminated intravascular coagulation30.1F2, ADAMTS13, F3, F8, F5
34sepsis30.1F2, ADAMTS13, F3, F5
35sneddon syndrome30.1APOH
36sagittal sinus thrombosis30.1F5
37portal vein thrombosis30.0F2, MTHFR, F8, F5
38retinal vascular occlusion30.0APOH, F5
39cardiac tamponade30.0F8
40cryoglobulinemia30.0APOH, CD40LG
41rheumatoid arthritis30.0APOH, ANXA5, MTHFR, CD40LG
42hyperhomocysteinemia30.0F2, APOH, MTHFR, F8, F5
43peripheral vascular disease30.0F3, MTHFR
44retinal vein occlusion29.9APOH, MTHFR, F5
45factor x deficiency29.9F2, F3, F5
46connective tissue disease29.9APOH, ADAMTS13
47liver cirrhosis29.9F2, ADAMTS13, F3
48protein c deficiency29.9F2, APOH, MTHFR, F5
49pre-eclampsia29.8APOH, F2, F5, F8, MTHFR, ANXA5
50catastrophic antiphospholipid syndrome11.1

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



Diseases related to antiphospholipid syndrome

Symptoms for Antiphospholipid Syndrome

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48OMIM
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Clinical features from OMIM:

107320

Drugs & Therapeutics for Antiphospholipid Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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23GTR
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Genetic tests related to Antiphospholipid Syndrome:

id Genetic test Affiliating Genes
1 Antiphospholipid Syndrome23

Anatomical Context for Antiphospholipid Syndrome

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34MalaCards
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MalaCards organs/tissues related to Antiphospholipid Syndrome:

34
Endothelial, Testes, Monocytes, Liver, T cells, Skin, Bone, Placenta, Heart, Bone marrow, Lung, Pituitary, Breast, Kidney, Spinal cord, Brain, Adrenal gland

Animal Models for Antiphospholipid Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Antiphospholipid Syndrome:

38
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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Sources:
53PubMed
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Articles related to Antiphospholipid Syndrome:

(show top 50)    (show all 1195)
idTitleAuthorsYear
1
Study of the fibrinolytic process in a patient with antiphospholipid syndrome. (24418942)
2014
2
The pathogenesis of the antiphospholipid syndrome. (23758255)
2013
3
HELLP syndrome and its relation with the antiphospholipid syndrome. (24333078)
2013
4
Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome. (24356613)
2013
5
Ocular manifestations in a newborn from a pregnancy complicated by an antiphospholipid syndrome--a case report. (24273913)
2013
6
A case of catastrophic antiphospholipid syndrome, which presented an acute interstitial pneumonia-like image on chest CT scan. (23553659)
2013
7
Top 10 clinical research developments in antiphospholipid syndrome. (24014256)
2013
8
Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome. (22559912)
2013
9
Primary antiphospholipid syndrome manifesting as partial status epilepticus. (23545615)
2013
10
8th International Congress on Autoimmunity: new perspectives for refractory catastrophic antiphospholipid syndrome. (23078059)
2012
11
Catastrophic antiphospholipid syndrome in a patient with V Leiden variant. (23319991)
2012
12
Symmetrical peripheral gangrene: a rare presentation of antiphospholipid syndrome. (22042628)
2012
13
Studies of microparticles in patients with the antiphospholipid syndrome (APS). (22635239)
2012
14
The management of stroke in antiphospholipid syndrome. (22109663)
2012
15
Vaccine model of antiphospholipid syndrome induced by tetanus vaccine. (22235053)
2012
16
Republished review: Ocular manifestations of the antiphospholipid syndrome. (21705776)
2011
17
Perioperative bridging therapy with low molecular weight heparin for patients with inherited thrombophilia and antiphospholipid syndrome on long-term acenokumarol therapy. (21076281)
2011
18
Pulmonary thromboembolism as the initial manifestation in a child with antiphospholipid syndrome in the emergency department. (21378521)
2011
19
Endothelium-dependent and independent dilation capability of peripheral arteries in patients with systemic lupus erythematosus and antiphospholipid syndrome. (21813059)
2011
20
Acute renal failure in a patient with antiphospholipid syndrome and immune thrombocytopenic purpura treated with eltrombopag. (20652968)
2010
21
Clinical and immunoserological characteristics of the transition from primary to overlap antiphospholipid syndrome. (20685773)
2010
22
Portal cavernoma in a patient with Crohn's disease associated with factor V Leiden mutation and antiphospholipid syndrome. (21188340)
2010
23
False-positive tests for heparin-induced thrombocytopenia in patients with antiphospholipid syndrome and systemic lupus erythematosus: a rebuttal. (20345710)
2010
24
Antiphospholipid syndrome. (20870361)
2010
25
Antiphospholipid syndrome and homozygous factor V Leiden mutation in a young patient with Libman-Sacks endocarditis and stroke. (20800139)
2010
26
Antiphospholipid syndrome: long-time research on pathogenic mechanisms has finally lead to new therapeutic strategies. (21058919)
2010
27
Catastrophic antiphospholipid syndrome complicated by cardiogenic shock - a case report]. (19650000)
2009
28
STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome. (19605742)
2009
29
New approaches for managing antiphospholipid syndrome. (19252521)
2009
30
Massive cerebrovascular infarct due to the catastrophic antiphospholipid syndrome in a patient with idiopathic thrombocytopenic purpura. (19617232)
2009
31
Reversible posterior leukoencephalopathy syndrome in catastrophic antiphospholipid syndrome. (17565204)
2007
32
Revised classification criteria for antiphospholipid syndrome and the thrombotic risk in patients with autoimmune diseases. (17596131)
2007
33
Localized retinal ischemia as an ocular manifestation of primary antiphospholipid syndrome. (17508052)
2007
34
Induction of antiphospholipid antibodies and antiphospholipid syndrome-like autoimmunity in naive mice with antibody against human parvovirus B19 VP1 unique region protein. (17451664)
2007
35
Unusual thrombotic manifestations secondary to antiphospholipid syndrome and hepatic fascioliasis. (15908004)
2006
36
Impaired factor XIIa-dependent activation of fibrinolysis in treated antiphospholipid syndrome gestations developing late-pregnancy complications. (16458646)
2006
37
Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome]. (16320685)
2005
38
Autoantibodies against EPCR are found in antiphospholipid syndrome and are a risk factor for fetal death. (15150078)
2004
39
Treatment outcome in women suffering from recurrent miscarriages and antiphospholipid syndrome]. (14669420)
2003
40
Anti-beta 2-glycoprotein I, antiprothrombin antibodies, and the risk of thrombosis in the antiphospholipid syndrome. (12816875)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 13EMD Millipore, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 55R&D Systems, 31KEGG
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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 Pathway39
Complement and Coagulation Cascades39
8.2F5, F8, F3, CFH, F2

Compounds for genes affiliated with Antiphospholipid Syndrome

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 3BitterDB
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Compounds related to Antiphospholipid Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1inogatran469.7F2, F3, F5
2ecarin469.7F2, F3, F5
3spectrozyme469.7F5, F3, F2
4danaparoid469.6F3, F5, F2
5ximelagatran46 1210.6F2, F3, F5
6heparinoids469.6F2, F5, F3
7fondaparinux469.6F5, F2, F3
8acenocoumarol46 52 1211.6F5, F3, F2
9bivalirudin46 1210.5F2, F5, F3
10argatroban46 1210.5F5, F2, F3
11dextran sulfate469.5F3, CD40LG, F5, APOH
12ppack469.4F2, CD40LG, F3
13protamine sulfate469.4F3, F2, F5
14coumarins469.4F5, APOH, F2, F3
15kininogen469.3APOH, F5, F3, F2
16gamma-carboxyglutamic acid469.3F2, F3, F5
17vitamin b12469.2CD40LG, APOH, MTHFR, F5
18hydroxyethyl starch469.2F2, F3, F8
19tranexamic acid46 1210.1F8, F3, F2
20rituximab46 52 1211.1APOH, ADAMTS13, CD40LG, F8
21cacl2468.9F5, F8, F3
22tirofiban46 129.8F2, CD40LG, F3, ANXA5
23abciximab46 129.8ANXA5, CD40LG, F3, F2
24kaolin468.8F3, F5, F2, APOH, F8
25hirudin468.7F5, F3, F8, F2, CD40LG
26ristocetin468.7F8, F3, F2, F5, ADAMTS13
27desmopressin46 62 30 1211.7F3, F5, F8, ADAMTS13, F2
28polyethylene glycol468.6F2, F5, CD40LG, F8
29epinephrine46 25 1210.6F5, F8, F3, CD40LG, F2
30polysaccharide468.5CFH, CD40LG, F8, F5, F3
31endotoxin468.5ADAMTS13, F8, F5, CD40LG, APOH, F3
32acetaminophen46 3 52 25 1212.4ANXA5, F8, F2, F5
33cyclophosphamide46 52 1210.4ADAMTS13, APOH, F3, MTHFR, F5, F8
34warfarin46 52 25 1211.3F5, F8, F2, MTHFR, F3, APOH
35phosphatidylethanolamine46 129.3F8, F5, F2, APOH, ANXA5
36homocysteine46 259.3F8, MTHFR, F3, APOH, F2, F5
37phosphatidylcholine468.2APOH, F5, F8, ANXA5, F2
38aspartate468.1CD40LG, F2, F3, MTHFR, F5, F8
39phospholipid467.9APOH, F3, ANXA5, F8, F5, F2
40aspirin46 52 30 2510.9F2, F5, F8, MTHFR, F3, APOH
41lactate467.9APOH, ANXA5, F8, F5, CD40LG, F2
42alanine467.7F3, F5, F8, MTHFR, CFH, F2
43phosphatidylserine46 30 129.6APOH, F5, ANXA5, F3, F2, F8
44vegf467.6F8, APOH, CD40LG, F5, ANXA5, F3
45creatinine467.5F3, MTHFR, F8, F5, CD40LG, ADAMTS13
46serine467.3F3, CD40LG, F5, F2, CFH, ADAMTS13
47cardiolipin46 128.2APOH, CD40LG, F5, F8, ANXA5, CFH
48cyclosporin a46 30 629.2ANXA5, F8, CD40LG, MTHFR, F2, CFH
49heparin46 30 25 129.2CD40LG, F5, F8, MTHFR, ANXA5, F3
50fibrinogen466.2F8, MTHFR, ANXA5, F3, ADAMTS13, APOH

GO Terms for genes affiliated with Antiphospholipid Syndrome

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17Gene Ontology
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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:0080159.6MTHFR, F5
3positive regulation of blood coagulationGO:0301949.6F2, APOH
4blood coagulation, intrinsic pathwayGO:0075979.1F2, APOH, F8
5acute-phase responseGO:0069539.0F8, F2
6platelet activationGO:0301688.4F2, ADAMTS13, F8, F5, CD40LG
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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  • Antibodies
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Sources for Antiphospholipid Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet