MCID: ANT041
MIFTS: 20

Antiphospholipid Syndrome, Familial

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Antiphospholipid Syndrome, Familial

MalaCards integrated aliases for Antiphospholipid Syndrome, Familial:

Name: Antiphospholipid Syndrome, Familial 57 13
Lupus Anticoagulant, Familial 57 73
Syndrome, Antiphospholipid, Familial 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable ocular phenotype


HPO:

31
antiphospholipid syndrome, familial:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Antiphospholipid Syndrome, Familial

OMIM® : 57 The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; 138700). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989). Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome. Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome. Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (188030), are discussed elsewhere (e.g., 109100, 269200). (107320) (Updated 05-Apr-2021)

MalaCards based summary : Antiphospholipid Syndrome, Familial, also known as lupus anticoagulant, familial, is related to antiphospholipid syndrome. An important gene associated with Antiphospholipid Syndrome, Familial is ATPLS (Antiphospholipid Syndrome, Familial). Related phenotypes are venous thrombosis and retinal detachment

Wikipedia : 73 Lupus anticoagulant is an immunoglobulin that binds to phospholipids and proteins associated with the... more...

Related Diseases for Antiphospholipid Syndrome, Familial

Diseases in the Antiphospholipid Syndrome family:

Antiphospholipid Syndrome, Familial

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

# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 11.3

Symptoms & Phenotypes for Antiphospholipid Syndrome, Familial

Human phenotypes related to Antiphospholipid Syndrome, Familial:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 venous thrombosis 31 HP:0004936
2 retinal detachment 31 HP:0000541
3 keratitis 31 HP:0000491
4 arterial thrombosis 31 HP:0004420
5 visual loss 31 HP:0000572
6 blurred vision 31 HP:0000622
7 autoimmune thrombocytopenia 31 HP:0001973
8 scleritis 31 HP:0100532
9 iritis 31 HP:0001101
10 vitritis 31 HP:0011531
11 lupus anticoagulant 31 HP:0025343
12 retinal vasculitis 31 HP:0025188
13 central retinal artery occlusion 31 HP:0025342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
venous thrombosis
arterial thrombosis

Hematology:
immune thrombocytopenia

Prenatal Manifestations Delivery:
recurrent fetal loss

Head And Neck Eyes:
retinal detachment
visual loss
blurred vision
iritis
vitritis
more
Immunology:
autoantibodies against cellular phospholipid components
anticardiolipin antibodies
lupus anticoagulant antibodies

Clinical features from OMIM®:

107320 (Updated 05-Apr-2021)

Drugs & Therapeutics for Antiphospholipid Syndrome, Familial

Search Clinical Trials , NIH Clinical Center for Antiphospholipid Syndrome, Familial

Genetic Tests for Antiphospholipid Syndrome, Familial

Anatomical Context for Antiphospholipid Syndrome, Familial

Publications for Antiphospholipid Syndrome, Familial

Articles related to Antiphospholipid Syndrome, Familial:

(show all 17)
# Title Authors PMID Year
1
New insights into the biology and pathobiology of beta2-glycoprotein I. 57
21089000 2011
2
Antiphospholipid syndrome. 57
20822807 2010
3
Autoantibody explosion in antiphospholipid syndrome. 57
18171610 2008
4
Complement C5a receptors and neutrophils mediate fetal injury in the antiphospholipid syndrome. 57
14660741 2003
5
Ocular features associated with anticardiolipin antibodies: a descriptive study. 57
11292408 2001
6
Visual disturbances and pathologic ocular findings in primary antiphospholipid syndrome. 57
10442901 1999
7
A role for the polymorphism at position 247 of the beta2-glycoprotein I gene in the generation of anti-beta2-glycoprotein I antibodies in the antiphospholipid syndrome. 57
10446865 1999
8
Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. 57
10025927 1999
9
Effects of antithrombin on Binswanger's disease with antiphospholipid antibody syndrome. 57
9932966 1999
10
Typical mitral stenosis found in a systemic lupus erythematosus patient with a positive lupus anticoagulant. Is there a pathogenic link? 57
9622223 1998
11
Familial lupus anticoagulant: a case report and review of the literature. 57
9622219 1998
12
Familial antiphospholipid syndrome and HLA-DRB gene associations. 57
9336432 1997
13
Coexistence of familial antiphospholipid syndrome and factor V Leiden: impact on thrombotic diathesis. 57
8757529 1996
14
Anti-phospholipid antibodies are directed against a complex antigen that includes a lipid-binding inhibitor of coagulation: beta 2-glycoprotein I (apolipoprotein H). 57
2349221 1990
15
Familial occurrence of the antiphospholipid syndrome. 57
2499608 1989
16
Familial lupus anticoagulants. 57
3689698 1987
17
Familial association of the lupus anticoagulant. 57
7378333 1980

Variations for Antiphospholipid Syndrome, Familial

Expression for Antiphospholipid Syndrome, Familial

Search GEO for disease gene expression data for Antiphospholipid Syndrome, Familial.

Pathways for Antiphospholipid Syndrome, Familial

GO Terms for Antiphospholipid Syndrome, Familial

Sources for Antiphospholipid Syndrome, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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