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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of complement system

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of immune system physiology
    - Abnormality of humoral immunity
      - Abnormality of complement system
        Abnormal total hemolytic complement activity
        Increased total hemolytic complement activity
        Reduced circulating CH50 activity
        Abnormality of the alternative complement pathway
        Depletion of components of the alternative complement pathway
        Dysfunctional alternative complement pathway
        Decreased circulating C1-esterase inhibitor concentration
        Elevated circulating complement component concentration
        Elevated circulating complement C3 concentration
        Reduced circulating complement concentration
        C1Q deficiency
        C1Q deficiency 1
        C1Q deficiency 2
        C1Q deficiency 3
        C3 deficiency
        C4 Deficiency
        Complement component 2 deficiency
        Complement component 3 deficiency
        Complement component 5 deficiency
        Complement component C1r/C1s deficiency
        Decreased circulating C1q concentration
        Decreased circulating complement C3 concentration
        Decreased circulating complement C4 concentration
        Complement component 4b deficiency
        Decreased circulating complement C4a concentration
        Decreased circulating complement component 1s concentration
        Decreased circulating complement factor B concentration
        Decreased circulating complement factor H concentration
        Partial complement factor H deficiency
        Decreased circulating complement factor I concentration
        Decreased circulating terminal complement component concentration
        Decreased circulating complement C5 concentration
        Decreased circulating complement C6 concentration
        Decreased circulating complement C7 concentration
        Decreased circulating complement C8 concentration
        Decreased circulating complement C9 concentration
        Immunodeficiency due to a classical component pathway complement deficiency
        Immunodeficiency due to a late component of complement deficiency
        Immunodeficiency due to ficolin3 deficiency
        Immunodeficiency due to MASP-2 deficiency
        Partial functional complement factor D deficiency

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.

See: Condition Record

Complement component C1s deficiency

Professional guidelines

PubMed

C3G and Ig-MPGN-treatment standard.

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793 Free PMC Article

AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.

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: 34454714 Free PMC Article

Hemolytic Anemia: Evaluation and Differential Diagnosis.

Phillips J, Henderson AC
Am Fam Physician 2018 Sep 15;98(6):354-361. PMID: 30215915

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Recent clinical studies

Etiology

TLR4 Cross-Talk With NLRP3 Inflammasome and Complement Signaling Pathways in Alzheimer's Disease.

Yang J, Wise L, Fukuchi KI
Front Immunol 2020;11:724. Epub 2020 Apr 23 doi: 10.3389/fimmu.2020.00724. PMID: 32391019 Free PMC Article

A Narrative Review on C3 Glomerulopathy: A Rare Renal Disease.

Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692 Free PMC Article

Complement dysregulation in glomerulonephritis.

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 Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

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: 29724491 Free PMC Article

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

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: 20595690 Free PMC Article

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Diagnosis

C3G and Ig-MPGN-treatment standard.

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793 Free PMC Article

Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.

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: 36609679 Free PMC Article

A Review of Complement Activation in SLE.

Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681 Free PMC Article

Complement dysregulation in glomerulonephritis.

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

Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.

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

See all (703)

Therapy

IgA Nephropathy: Core Curriculum 2021.

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

A Narrative Review on C3 Glomerulopathy: A Rare Renal Disease.

Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692 Free PMC Article

Systemic lupus erythematosus and immunodeficiency.

Sawada T, Fujimori D, Yamamoto Y
Immunol Med 2019 Mar;42(1):1-9. Epub 2019 Jun 17 doi: 10.1080/25785826.2019.1628466. PMID: 31204893

Glutamate and dopamine in schizophrenia: an update for the 21st century.

Howes O, McCutcheon R, Stone J
J Psychopharmacol 2015 Feb;29(2):97-115. Epub 2015 Jan 13 doi: 10.1177/0269881114563634. PMID: 25586400 Free PMC Article

Angioedema.

Kaplan AP, Greaves MW
J Am Acad Dermatol 2005 Sep;53(3):373-88; quiz 389-92. doi: 10.1016/j.jaad.2004.09.032. PMID: 16112343

See all (358)

Prognosis

C3G and Ig-MPGN-treatment standard.

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793 Free PMC Article

AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.

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: 34454714 Free PMC Article

IgA Nephropathy: Core Curriculum 2021.

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

A Review of Complement Activation in SLE.

Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681 Free PMC Article

Complement dysregulation in glomerulonephritis.

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

See all (340)

Clinical prediction guides

C3G and Ig-MPGN-treatment standard.

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793 Free PMC Article

AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.

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: 34454714 Free PMC Article

IgA Nephropathy: Core Curriculum 2021.

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

A Review of Complement Activation in SLE.

Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681 Free PMC Article

A Narrative Review on C3 Glomerulopathy: A Rare Renal Disease.

Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692 Free PMC Article

See all (534)

Recent systematic reviews

Morphological and morphokinetic associations with aneuploidy: a systematic review and meta-analysis.

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

Clinical Profiles of Asians with NAFLD: A Systematic Review and Meta-Analysis.

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: 34942625 Free PMC Article

A systematic review of prenatal screening for congenital heart disease by fetal electrocardiography.

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

Behçet's syndrome: a critical digest of the 2013-2014 literature.

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

Consensus statement AIGO/SICCR: diagnosis and treatment of chronic constipation and obstructed defecation (part I: diagnosis).

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: 22529683 Free PMC Article

See all (13)

MedGen

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Abnormality of complement system

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

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