Details of Disease

General Information of Disease (ID: DISPI49U)

• Disease Name: Phospholipid syndrome
• Synonyms: lupus anticoagulant, familial; antiphospholipid antibody syndrome; Hughes syndrome; antiphospholipid syndrome; familial lupus anticoagulant
• Disease Class: 4A45: Antiphospholipid syndrome
• Definition: A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISORMTM: Autoimmune disease
  DISPI49U: Phospholipid syndrome
• ICD Code:
  ICD-11: ICD-11: 4A45
  ICD-10: ICD-10: D68.6
  Expand ICD-11: '4A45
  Expand ICD-10: 'D68.6
• Disease Identifiers:
  MONDO ID: MONDO_8000010
  MESH ID: D016736
  UMLS CUI: C0085278
  MedGen ID: 38834
  Orphanet ID: 456312
  SNOMED CT ID: 26843008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ALXN1007	DMFRDBI	Phase 2	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACR	TTAHE2N	Limited	Biomarker	[2]
ANXA8	TTSW16P	Limited	Biomarker	[3]
LCT	TTA0OSE	Limited	Biomarker	[4]
APOH	TT2OUI9	moderate	Biomarker	[5]
CPB2	TTP18AY	moderate	Biomarker	[6]
F3	TT38MDJ	moderate	Altered Expression	[7]
TFPI	TT068JH	moderate	Biomarker	[8]
TSHR	TT6NYJA	moderate	Genetic Variation	[9]
ANXA2	TT4YANI	Strong	Biomarker	[10]
ANXA5	TT2Z83I	Strong	Biomarker	[11]
F10	TTCIHJA	Strong	Biomarker	[12]
F5	TT1O264	Strong	Genetic Variation	[13]
GPI	TT19JIZ	Strong	Biomarker	[14]
KLK3	TTS78AZ	Strong	Biomarker	[15]
PPARG	TTT2SVW	Strong	Biomarker	[16]
SELPLG	TTS5K8U	Strong	Genetic Variation	[17]
IDS	TTNY2AP	Definitive	Genetic Variation	[18]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLSCR1	OTGY9B5T	Limited	Altered Expression	[19]
RAB4A	OT7BL9WW	Disputed	Genetic Variation	[20]
FRMD4A	OTJDTIK2	moderate	Genetic Variation	[9]
PTPRO	OTFLKWOY	moderate	Genetic Variation	[9]
SYCP2L	OT926TNQ	moderate	Genetic Variation	[9]
LRP8	OTZ71YV2	Strong	Biomarker	[21]
SH2B2	OTEDHHDH	Strong	Biomarker	[15]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] Risk of damage and mortality in SLE patients fulfilling the ACR or only the SLICC classification criteria. A 10-year, inception cohort study.Lupus. 2018 Apr;27(4):556-563. doi: 10.1177/0961203317731534. Epub 2017 Sep 21.
• [3] Detection of annexin A8 antibodies in serum of patients with antiphospholipid syndrome.Biochem Med (Zagreb). 2018 Oct 15;28(3):030703. doi: 10.11613/BM.2018.030703.
• [4] Identification of high thrombotic risk triple-positive antiphospholipid syndrome patients is dependent on anti-cardiolipin and anti-2glycoprotein I antibody detection assays.J Thromb Haemost. 2018 Oct;16(10):2016-2023. doi: 10.1111/jth.14261. Epub 2018 Aug 24.
• [5] Management of maternal antiphospholipid syndrome.Clin Exp Rheumatol. 2020 Jan-Feb;38(1):149-156. Epub 2019 Jun 28.
• [6] Thrombin activatable fibrinolysis inhibitor (TAFI) - A possible link between coagulation and complement activation in the antiphospholipid syndrome (APS).Thromb Res. 2017 Oct;158:168-173. doi: 10.1016/j.thromres.2017.06.028. Epub 2017 Jun 24.
• [7] Dilute Russell viper venom time interpretation and clinical correlation: A two-year retrospective institutional review.Int J Lab Hematol. 2019 Feb;41(1):80-86. doi: 10.1111/ijlh.12925. Epub 2018 Sep 8.
• [8] Antibodies against TFPI and protein C are associated with a severe thrombotic phenotype in patients with and without antiphospholipid syndrome.Thromb Res. 2018 Oct;170:60-68. doi: 10.1016/j.thromres.2018.08.003. Epub 2018 Aug 7.
• [9] The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.J Hum Genet. 2017 Sep;62(9):831-838. doi: 10.1038/jhg.2017.46. Epub 2017 Apr 20.
• [10] Prevalence of anti-S100A10 antibodies in antiphospholipid syndrome patients.Thromb Res. 2019 Jul;179:15-19. doi: 10.1016/j.thromres.2019.04.027. Epub 2019 Apr 24.
• [11] Absence of Distinct Immunohistochemical Distribution of Annexin A5, C3b, C4d, and C5b-9 in Placentas From Patients With Antiphospholipid Antibodies, Preeclampsia, and Systemic Lupus Erythematosus.Pediatr Dev Pathol. 2019 Oct;22(5):431-439. doi: 10.1177/1093526619836025. Epub 2019 Mar 28.
• [12] Factor Xa inhibitors for preventing recurrent thrombosis in patients with antiphospholipid syndrome: a longitudinal cohort study.Lupus. 2019 Nov;28(13):1577-1582. doi: 10.1177/0961203319881200. Epub 2019 Oct 21.
• [13] Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review.Blood Rev. 2018 Jul;32(4):272-279. doi: 10.1016/j.blre.2018.01.002. Epub 2018 Apr 20.
• [14] Blood Cell-Bound C4d as a Marker of Complement Activation in Patients With the Antiphospholipid Syndrome.Front Immunol. 2019 Apr 12;10:773. doi: 10.3389/fimmu.2019.00773. eCollection 2019.
• [15] The comparison of real world and core laboratory antiphospholipid antibody ELISA results from antiphospholipid syndrome alliance for clinical trials & international networking (APS ACTION) clinical database and repository analysis.Thromb Res. 2019 Mar;175:32-36. doi: 10.1016/j.thromres.2019.01.010. Epub 2019 Jan 18.
• [16] Nephropathy in Pparg-null mice highlights PPAR systemic activities in metabolism and in the immune system.PLoS One. 2017 Feb 9;12(2):e0171474. doi: 10.1371/journal.pone.0171474. eCollection 2017.
• [17] The association between P selectin glycoprotein ligand 1 gene variable number of tandem repeats polymorphism and risk of thrombosis in Behet's disease.Int J Rheum Dis. 2018 Dec;21(12):2175-2179. doi: 10.1111/1756-185X.13151. Epub 2017 Aug 14.
• [18] Thrombotic risk assessment and analytical performance of the chemiluminescent analyzer IDS-iSYS for the detection of anti-cardiolipin and anti-beta 2 glycoprotein I autoantibodies.Clin Immunol. 2018 Sep;194:92-99. doi: 10.1016/j.clim.2018.07.006. Epub 2018 Jul 11.
• [19] Phospholipid scramblase 1 expression is enhanced in patients with antiphospholipid syndrome.Mod Rheumatol. 2013 Jan;23(1):81-8. doi: 10.1007/s10165-012-0642-9. Epub 2012 Apr 24.
• [20] Haplotypes of the HRES-1 endogenous retrovirus are associated with development and disease manifestations of systemic lupus erythematosus.Arthritis Rheum. 2008 Feb;58(2):532-40. doi: 10.1002/art.23161.
• [21] Antiphospholipid antibodies induce thrombosis by PP2A activation via apoER2-Dab2-SHC1 complex formation in endothelium.Blood. 2018 May 10;131(19):2097-2110. doi: 10.1182/blood-2017-11-814681. Epub 2018 Mar 2.