MCID: ANT041
MIFTS: 20

Antiphospholipid Syndrome, Familial

Categories: Blood 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 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable ocular phenotype


HPO:

32
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)

MalaCards based summary : Antiphospholipid Syndrome, Familial, also known as lupus anticoagulant, familial, is related to antiphospholipid syndrome and systemic lupus erythematosus. An important gene associated with Antiphospholipid Syndrome, Familial is ATPLS (Antiphospholipid Syndrome, Familial). Affiliated tissues include testes, and related phenotypes are venous thrombosis and keratitis

Wikipedia : 76 Lupus anticoagulant (also known as lupus antibody, LA, LAC, or lupus inhibitors) is an immunoglobulin... 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 11.2
2 systemic lupus erythematosus 9.7
3 endomyocardial fibrosis 9.7
4 lupus erythematosus 9.7

Symptoms & Phenotypes for Antiphospholipid Syndrome, Familial

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Antiphospholipid Syndrome, Familial:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 venous thrombosis 32 HP:0004936
2 keratitis 32 HP:0000491
3 retinal detachment 32 HP:0000541
4 visual loss 32 HP:0000572
5 arterial thrombosis 32 HP:0004420
6 blurred vision 32 HP:0000622
7 autoimmune thrombocytopenia 32 HP:0001973
8 iritis 32 HP:0001101
9 scleritis 32 HP:0100532
10 vitritis 32 HP:0011531
11 lupus anticoagulant 32 HP:0025343
12 retinal vasculitis 32 HP:0025188
13 central retinal artery occlusion 32 HP:0025342

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

MalaCards organs/tissues related to Antiphospholipid Syndrome, Familial:

41
Testes

Publications for Antiphospholipid Syndrome, Familial

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 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
Content
Loading form....