MCID: CTS005
MIFTS: 44

Catastrophic Antiphospholipid Syndrome

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Catastrophic Antiphospholipid Syndrome

MalaCards integrated aliases for Catastrophic Antiphospholipid Syndrome:

Name: Catastrophic Antiphospholipid Syndrome 53 59 73
Catastrophic Antiphospholipid Antibody Syndrome 53
Cryopyrin-Associated Periodic Syndromes 73
Thrombotic Storm 53
Catastrophic Aps 59
Caps 59

Classifications:



External Ids:

Orphanet 59 ORPHA464343
ICD10 via Orphanet 34 D68.6

Summaries for Catastrophic Antiphospholipid Syndrome

NIH Rare Diseases : 53 Catastrophic antiphospholipid syndrome (CAPS) is a rare form of antiphospholipid syndrome (APS). In CAPS multiple blood clots form throughout the body over a short period of time (usually within a week). CAPS is a medical emergency, as clots can cause life-threatening multi-organ failure. The cause of CAPS is unknown. A widely accepted explanation is that it is caused by a combination of genemutations (making one more susceptible to CAPS) and an environmental trigger, such as an infection, trauma, or surgery.

MalaCards based summary : Catastrophic Antiphospholipid Syndrome, also known as catastrophic antiphospholipid antibody syndrome, is related to heparin-induced thrombocytopenia and hepatic infarction. An important gene associated with Catastrophic Antiphospholipid Syndrome is APOH (Apolipoprotein H), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and endothelial, and related phenotypes are homeostasis/metabolism and hematopoietic system

Related Diseases for Catastrophic Antiphospholipid Syndrome

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

(show top 50) (show all 170)
# Related Disease Score Top Affiliating Genes
1 heparin-induced thrombocytopenia 30.3 CD40LG F3
2 hepatic infarction 30.2 APOH F3 MTHFR
3 hemolytic anemia 29.8 ADAMTS13 APOH CFH
4 antiphospholipid syndrome 29.5 ADAMTS13 APOH CD40LG F3 F5 MTHFR
5 protein s deficiency 29.3 APOH F3 F5 MTHFR
6 systemic lupus erythematosus 29.3 ADAMTS13 APOH CD40LG F3
7 retinal artery occlusion 28.7 APOH F5 MTHFR SERPINE1
8 purpura 28.4 ADAMTS13 APOH CD40LG F3 PROC
9 disseminated intravascular coagulation 28.4 ADAMTS13 F3 F5 SERPINE1
10 pulmonary embolism 27.9 APOH F3 F5 MTHFR SERPINE1
11 stroke, ischemic 27.8 APOH F3 F5 MTHFR SERPINE1
12 thrombosis 27.8 APOH F3 F5 MTHFR PROC SERPINE1
13 hellp syndrome 26.4 ADAMTS13 APOH CFH F3 F5 MTHFR
14 may-thurner syndrome 10.7 APOH F5
15 blood protein disease 10.7 MTHFR PROC
16 acanthamoeba keratitis 10.7 APOH F5
17 pregnancy loss, recurrent 1 10.7 APOH F5
18 prothrombin deficiency, congenital 10.6 APOH F5
19 ischemic colitis 10.6 APOH F5
20 sneddon syndrome 10.6 APOH F5
21 sudden sensorineural hearing loss 10.6 F5 MTHFR
22 carotid artery occlusion 10.6 APOH F5
23 porencephaly 10.5 F5 MTHFR
24 carotid artery dissection 10.5 ADAMTS13 MTHFR
25 thrombotic thrombocytopenic purpura, congenital 10.5 ADAMTS13 CFH
26 purpura fulminans 10.5 F3 PROC
27 acquired hemophilia a 10.5 F3 F5
28 acquired hemophilia 10.5 F3 F5
29 nephrosclerosis 10.5 ADAMTS13 MTHFR
30 patent foramen ovale 10.4 F5 MTHFR
31 sagittal sinus thrombosis 10.4 F3 F5
32 arteritic anterior ischemic optic neuropathy 10.4 F5 MTHFR
33 borderline leprosy 10.4 APOH CD40LG
34 viral exanthem 10.4 APOH CD40LG
35 erythema infectiosum 10.4 APOH CD40LG
36 evans' syndrome 10.4 ADAMTS13 CD40LG
37 spinal cord infarction 10.3 APOH F5 MTHFR
38 primary thrombocytopenia 10.3 ADAMTS13 CD40LG
39 schizencephaly 10.3 F5 MTHFR
40 retinal vascular occlusion 10.3 APOH F5 MTHFR
41 antithrombin iii deficiency 10.3 APOH F5 MTHFR
42 central retinal vein occlusion 10.3 APOH F5 MTHFR
43 autoimmune disease of blood 10.3 ADAMTS13 CD40LG
44 hemophilia a 10.3 F3 F5
45 placental abruption 10.3 APOH F5 MTHFR
46 ischemic optic neuropathy 10.3 APOH F5 MTHFR
47 severe hemophilia a 10.2 F3 F5
48 protein c deficiency 10.2 F5 MTHFR PROC
49 syphilis 10.2 APOH CD40LG
50 lupus erythematosus 10.2

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



Diseases related to Catastrophic Antiphospholipid Syndrome

Symptoms & Phenotypes for Catastrophic Antiphospholipid Syndrome

MGI Mouse Phenotypes related to Catastrophic Antiphospholipid Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 CFH F3 F5 MTHFR PROC SERPINE1
2 hematopoietic system MP:0005397 9.8 CFH CRLS1 F3 PROC SERPINE1 ADAMTS13
3 immune system MP:0005387 9.5 CFH CRLS1 F3 PROC SERPINE1 ADAMTS13
4 mortality/aging MP:0010768 9.28 CFH F3 F5 MTHFR PROC SERPINE1

Drugs & Therapeutics for Catastrophic Antiphospholipid Syndrome

Drugs for Catastrophic Antiphospholipid Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Immunoglobulins Phase 2
3 Antibodies, Antiphospholipid Phase 2
4
alemtuzumab Approved, Investigational Phase 1 216503-57-0
5
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
6
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
7
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
8
Acetaminophen Approved Phase 1 103-90-2 1983
9
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
10
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
11
Promethazine Approved, Investigational Phase 1 60-87-7 4927
12
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
13 tannic acid Approved, Nutraceutical Phase 1
14 Alkylating Agents Phase 1
15 diuretics Phase 1
16 Cortisol succinate Phase 1
17 Hydrocortisone 17-butyrate 21-propionate Phase 1
18 Hydrocortisone acetate Phase 1
19 Immunosuppressive Agents Phase 1
20 Antigen-Antibody Complex Phase 1
21 Antirheumatic Agents Phase 1
22 Antineoplastic Agents, Alkylating Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Eculizumab to Enable Renal Transplantation in Patients With History of Catastrophic Antiphospholipid Antibody Syndrome Active, not recruiting NCT01029587 Phase 2 Eculizumab
2 Nonmyeloablative Allo Stem Cell Transplant for Severe Autoimmune Diseases Terminated NCT00849745 Phase 1

Search NIH Clinical Center for Catastrophic Antiphospholipid Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Catastrophic Antiphospholipid Syndrome

Anatomical Context for Catastrophic Antiphospholipid Syndrome

MalaCards organs/tissues related to Catastrophic Antiphospholipid Syndrome:

41
Liver, Bone, Endothelial, Bone Marrow, Heart, Skin, Lung

Publications for Catastrophic Antiphospholipid Syndrome

Articles related to Catastrophic Antiphospholipid Syndrome:

(show top 50) (show all 267)
# Title Authors Year
1
Catastrophic antiphospholipid syndrome and pregnancy. Clinical report. ( 29284338 )
2018
2
Catastrophic antiphospholipid syndrome and pregnancy. ( 29179957 )
2018
3
The diagnosis and clinical management of the catastrophic antiphospholipid syndrome: A comprehensive review. ( 29779928 )
2018
4
Microthrombotic renal involvement in an SLE patient with concomitant catastrophic antiphospholipid syndrome: the beneficial effect of rituximab treatment. ( 29635999 )
2018
5
Therapeutic apheresis in the treatment of catastrophic antiphospholipid syndrome. ( 29478799 )
2018
6
Rare Presentation of Catastrophic Antiphospholipid Syndrome with Myocarditis in Post-partum Period: Case Report and Review of Literature. ( 29391679 )
2018
7
McMaster RARE-Bestpractices clinical practice guideline on diagnosis and management of the catastrophic antiphospholipid syndrome. ( 29978552 )
2018
8
Clinical Report of Probable Catastrophic Antiphospholipid Syndrome in Pregnancy. ( 29808136 )
2018
9
Immunomodulation in the Treatment of Refractory Catastrophic Antiphospholipid Syndrome. ( 29805821 )
2018
10
Complement System Abnormalities in Patients with Atypical Hemolytic Uremic Syndrome and Catastrophic Antiphospholipid Syndrome. ( 29308852 )
2017
11
Lupus-Negative Libman-Sacks Endocarditis Complicated by Catastrophic Antiphospholipid Syndrome. ( 28515823 )
2017
12
Catastrophic antiphospholipid syndrome: A case with unusual findings revealed in autopsy and a brief literature update. ( 29308285 )
2017
13
Catastrophic antiphospholipid syndrome (Ronald Asherson syndrome) and obstetric pathology. ( 28829758 )
2017
14
Diagnosis and management of catastrophic antiphospholipid syndrome. ( 28277850 )
2017
15
Catastrophic antiphospholipid syndrome (CAPS)-induced ischemic pancreatic ducts injury mimicking intraductal papillary mucinous neoplasm (IPMN). ( 28802775 )
2017
16
Catastrophic antiphospholipid syndrome: an update. ( 28488841 )
2017
17
Catastrophic Antiphospholipid Syndrome: Candidate Therapies for a Potentially Lethal Disease. ( 28099080 )
2017
18
Probable Catastrophic Antiphospholipid Syndrome with Intracerebral Hemorrhage Secondary to Epstein-Barr Viral Infection. ( 28357636 )
2017
19
Catastrophic antiphospholipid syndrome on switching from warfarin to rivaroxaban. ( 28319823 )
2017
20
The catastrophic antiphospholipid syndrome in children. ( 28632503 )
2017
21
Catastrophic antiphospholipid syndrome treated with rituximab: A case report. ( 28638691 )
2017
22
Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies. ( 27380476 )
2016
23
Plasma Exchange in the Management of Catastrophic Antiphospholipid Syndrome. ( 27833765 )
2016
24
Hepatic infarction in a pregnant woman with antiphospholipid syndrome and triple antibody positivity: A case report focusing on catastrophic antiphospholipid syndrome. ( 27668204 )
2016
25
Cutaneous gangrene of the arms and legs after cardiopulmonary resuscitation: A rare presentation of catastrophic antiphospholipid syndrome. ( 27396539 )
2016
26
Catastrophic antiphospholipid syndrome: The current management approach. ( 27886797 )
2016
27
Catastrophic Antiphospholipid Syndrome Triggered by Fulminant Chikungunya Infection in a Patient With Systemic Lupus Erythematosus. ( 26748818 )
2016
28
Catastrophic antiphospholipid syndrome in pregnancy, a diagnosis that should not be missed. ( 27023104 )
2016
29
Complement activation is a crucial pathogenic factor in catastrophic antiphospholipid syndrome. ( 27105662 )
2016
30
Uterine Artery Embolization Resulting in Catastrophic Antiphospholipid Syndrome in a Patient with Primary Antiphospholipid Syndrome. ( 27106650 )
2016
31
Probable catastrophic antiphospholipid syndrome (CAPS) in case of SLE. ( 27728684 )
2016
32
Catastrophic antiphospholipid syndrome after cardiac surgery. ( 27455170 )
2016
33
Treatment of catastrophic antiphospholipid syndrome. ( 26927441 )
2016
34
Catastrophic Antiphospholipid Syndrome. ( 27375916 )
2016
35
Catastrophic antiphospholipid syndrome (CAPS): Descriptive analysis of 500 patients from the International CAPS Registry. ( 27639837 )
2016
36
Seronegative catastrophic antiphospholipid syndrome in a young female presenting with a headache. ( 25559391 )
2015
37
A case of catastrophic antiphospholipid syndrome: first report with advanced cardiac imaging using MRI. ( 26014099 )
2015
38
Atypical Subacute Recurrence of Catastrophic Antiphospholipid Syndrome in a Japanese Female Patient. ( 26568011 )
2015
39
1272: CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME COMPLICATED BY TAKOTSUBO CARDIOMYOPATHY. ( 26570933 )
2015
40
Back from the Brink: Catastrophic Antiphospholipid Syndrome. ( 25596523 )
2015
41
Catastrophic antiphospholipid syndrome presenting as bilateral central retinal artery occlusions. ( 25722904 )
2015
42
Eculizumab Induces Sustained Remission in a Patient With Refractory Primary Catastrophic Antiphospholipid Syndrome. ( 26267719 )
2015
43
Hyperferritinemic syndrome: Still's disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients. ( 26233722 )
2015
44
Catastrophic Antiphospholipid Syndrome: Scintigraphic Demonstration With Correlated Cross-Sectional Imaging. ( 26447383 )
2015
45
Catastrophic antiphospholipid syndrome (CAPS): A rare and fatal encounter. ( 25983439 )
2015
46
The role of infectious diseases in the catastrophic antiphospholipid syndrome. ( 26209907 )
2015
47
Catastrophic Antiphospholipid syndrome in postpartum simulating peritonitis; a diagnostic trap. ( 26367418 )
2015
48
Catastrophic antiphospholipid syndrome: case reports and review of the literature. ( 25470889 )
2014
49
A case of catastrophic antiphospholipid syndrome, which presented an acute interstitial pneumonia-like image on chest CT scan. ( 24533549 )
2014
50
Catastrophic antiphospholipid syndrome: a clinical review. ( 24644537 )
2014

Variations for Catastrophic Antiphospholipid Syndrome

Expression for Catastrophic Antiphospholipid Syndrome

Search GEO for disease gene expression data for Catastrophic Antiphospholipid Syndrome.

Pathways for Catastrophic Antiphospholipid Syndrome

GO Terms for Catastrophic Antiphospholipid Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 ADAMTS13 APOH CD40LG CFH F3 F5
2 cell surface GO:0009986 9.46 ADAMTS13 APOH CD40LG F3
3 extracellular matrix GO:0031012 9.43 APOH F3 SERPINE1
4 extracellular space GO:0005615 9.23 ADAMTS13 APOH CD40LG CFH F3 F5

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.54 APOH F5 SERPINE1
2 blood coagulation GO:0007596 9.46 ADAMTS13 F3 F5 PROC
3 blood circulation GO:0008015 9.4 F5 MTHFR
4 positive regulation of blood coagulation GO:0030194 9.32 APOH SERPINE1
5 negative regulation of fibrinolysis GO:0051918 9.26 APOH SERPINE1
6 negative regulation of blood coagulation GO:0030195 9.13 APOH PROC SERPINE1
7 hemostasis GO:0007599 8.92 ADAMTS13 F3 F5 PROC

Sources for Catastrophic Antiphospholipid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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