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Abnormality of complement system

MedGen UID:
870756
Concept ID:
C4025213
Pathologic Function
HPO: HP:0005339

Definition

An abnormality of the complement system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of complement system

Conditions with this feature

Complement component C1s deficiency
MedGen UID:
462428
Concept ID:
C3151078
Disease or Syndrome
A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.

Professional guidelines

PubMed

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Phillips J, Henderson AC
Am Fam Physician 2018 Sep 15;98(6):354-361. PMID: 30215915

Recent clinical studies

Etiology

Yang J, Wise L, Fukuchi KI
Front Immunol 2020;11:724. Epub 2020 Apr 23 doi: 10.3389/fimmu.2020.00724. PMID: 32391019Free PMC Article
Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF
Biol Psychiatry 2019 Feb 15;85(4):287-297. Epub 2018 Mar 15 doi: 10.1016/j.biopsych.2018.02.1173. PMID: 29724491Free PMC Article
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article

Diagnosis

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Sinnathamby ES, Issa PP, Roberts L, Norwood H, Malone K, Vemulapalli H, Ahmadzadeh S, Cornett EM, Shekoohi S, Kaye AD
Adv Ther 2023 Mar;40(3):814-827. Epub 2023 Jan 7 doi: 10.1007/s12325-022-02401-0. PMID: 36609679Free PMC Article
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946

Therapy

Huo Y, Chen J, Zhang A, Zhou C, Cao W
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2023 Oct 28;48(10):1539-1545. doi: 10.11817/j.issn.1672-7347.2023.230109. PMID: 38432883Free PMC Article
Kang C
Drugs 2023 Jun;83(8):717-723. Epub 2023 May 11 doi: 10.1007/s40265-023-01877-6. PMID: 37166620
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article
Howes O, McCutcheon R, Stone J
J Psychopharmacol 2015 Feb;29(2):97-115. Epub 2015 Jan 13 doi: 10.1177/0269881114563634. PMID: 25586400Free PMC Article

Prognosis

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769

Clinical prediction guides

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article

Recent systematic reviews

Bamford T, Barrie A, Montgomery S, Dhillon-Smith R, Campbell A, Easter C, Coomarasamy A
Hum Reprod Update 2022 Aug 25;28(5):656-686. doi: 10.1093/humupd/dmac022. PMID: 35613016
Kam LY, Huang DQ, Teng MLP, Takahashi H, Tanaka K, Yasuda S, Fung J, Lee TY, Hyogo H, Ono M, Saruwatari J, Oniki K, Yeo YH, Barnett S, Henry L, Li J, Zou B, Cheung RC, Kumada T, Yuen MF, Eguchi Y, Toyoda H, Nguyen MH
Dig Dis 2022;40(6):734-744. Epub 2021 Dec 23 doi: 10.1159/000521662. PMID: 34942625Free PMC Article
Verdurmen KM, Eijsvoogel NB, Lempersz C, Vullings R, Schroer C, van Laar JO, Oei SG
Int J Gynaecol Obstet 2016 Nov;135(2):129-134. Epub 2016 Aug 4 doi: 10.1016/j.ijgo.2016.05.010. PMID: 27634052
Hatemi G, Seyahi E, Fresko I, Talarico R, Hamuryudan V
Clin Exp Rheumatol 2014 Jul-Aug;32(4 Suppl 84):S112-22. Epub 2014 Sep 30 PMID: 25268667
Bove A, Pucciani F, Bellini M, Battaglia E, Bocchini R, Altomare DF, Dodi G, Sciaudone G, Falletto E, Piloni V, Gambaccini D, Bove V
World J Gastroenterol 2012 Apr 14;18(14):1555-64. doi: 10.3748/wjg.v18.i14.1555. PMID: 22529683Free PMC Article

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