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Decreased circulating complement C3 concentration

MedGen UID:
332469
Concept ID:
C1837512
Finding
Synonym: Decreased serum complement C3
 
HPO: HP:0005421

Definition

Concentration of the complement component C3 in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C3 concentration

Conditions with this feature

Hemolytic uremic syndrome, atypical, susceptibility to, 1
MedGen UID:
412743
Concept ID:
C2749604
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
MedGen UID:
414541
Concept ID:
C2752036
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome with C3 anomaly
MedGen UID:
442875
Concept ID:
C2752037
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome with I factor anomaly
MedGen UID:
414542
Concept ID:
C2752039
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
MedGen UID:
414167
Concept ID:
C2752040
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Complement component 3 deficiency
MedGen UID:
462421
Concept ID:
C3151071
Disease or Syndrome
C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.
Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
MedGen UID:
462697
Concept ID:
C3151347
Disease or Syndrome
Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004). Acquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by Misra et al., 2004). See 608709 for a subtype of APLD not associated with low complement C3 or renal disease.
Autosomal systemic lupus erythematosus type 16
MedGen UID:
482372
Concept ID:
C3280742
Disease or Syndrome
About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.
Factor I deficiency
MedGen UID:
483045
Concept ID:
C3463916
Disease or Syndrome
C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
MedGen UID:
816258
Concept ID:
C3809928
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Lipodystrophy, partial, acquired, susceptibility to
MedGen UID:
854363
Concept ID:
C3887501
Finding
An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.
Systemic lupus erythematosus 17
MedGen UID:
1804329
Concept ID:
C5676884
Disease or Syndrome
Systemic lupus erythematosus-17 (SLE17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.

Professional guidelines

Recent clinical studies

Etiology

Nielsen TL, Pilely K, Lund KP, Warming PE, Plesner LL, Iversen KK, Garred P
Hemodial Int 2021 Oct;25(4):479-488. Epub 2021 Jun 16 doi: 10.1111/hdi.12948. PMID: 34132045
Antovic A, Mobarrez F, Manojlovic M, Soutari N, De Porta Baggemar V, Nordin A, Bruchfeld A, Vojinovic J, Gunnarsson I
J Rheumatol 2020 May 1;47(5):714-721. Epub 2019 Aug 1 doi: 10.3899/jrheum.181347. PMID: 31371653
Gómez-Banoy N, Guseh JS, Li G, Rubio-Navarro A, Chen T, Poirier B, Putzel G, Rosselot C, Pabón MA, Camporez JP, Bhambhani V, Hwang SJ, Yao C, Perry RJ, Mukherjee S, Larson MG, Levy D, Dow LE, Shulman GI, Dephoure N, Garcia-Ocana A, Hao M, Spiegelman BM, Ho JE, Lo JC
Nat Med 2019 Nov;25(11):1739-1747. Epub 2019 Nov 7 doi: 10.1038/s41591-019-0610-4. PMID: 31700183Free PMC Article
Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article

Diagnosis

Antovic A, Mobarrez F, Manojlovic M, Soutari N, De Porta Baggemar V, Nordin A, Bruchfeld A, Vojinovic J, Gunnarsson I
J Rheumatol 2020 May 1;47(5):714-721. Epub 2019 Aug 1 doi: 10.3899/jrheum.181347. PMID: 31371653
Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Shen L, Engelhardt JA, Hung G, Yee J, Kikkawa R, Matson J, Tayefeh B, Machemer T, Giclas PC, Henry SP
Nucleic Acid Ther 2016 Aug;26(4):236-49. Epub 2016 May 3 doi: 10.1089/nat.2015.0584. PMID: 27140858
Senbagavalli P, Geetha ST, Venkatesan P, Ramanathan VD
J Clin Immunol 2009 Sep;29(5):674-80. Epub 2009 May 27 doi: 10.1007/s10875-009-9301-0. PMID: 19472039
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article

Therapy

Nielsen TL, Pilely K, Lund KP, Warming PE, Plesner LL, Iversen KK, Garred P
Hemodial Int 2021 Oct;25(4):479-488. Epub 2021 Jun 16 doi: 10.1111/hdi.12948. PMID: 34132045
Shen L, Engelhardt JA, Hung G, Yee J, Kikkawa R, Matson J, Tayefeh B, Machemer T, Giclas PC, Henry SP
Nucleic Acid Ther 2016 Aug;26(4):236-49. Epub 2016 May 3 doi: 10.1089/nat.2015.0584. PMID: 27140858
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Johnson RJ, Gretch DR, Yamabe H, Hart J, Bacchi CE, Hartwell P, Couser WG, Corey L, Wener MH, Alpers CE
N Engl J Med 1993 Feb 18;328(7):465-70. doi: 10.1056/NEJM199302183280703. PMID: 7678440
Dunzendorfer U, Jung K, Ohlenschläger G
Eur Urol 1980;6(4):232-6. doi: 10.1159/000473339. PMID: 6156074

Prognosis

Zhou H, Li B, Li J, Wu T, Jin X, Yuan R, Shi P, Zhou Y, Li L, Yu F
Mediators Inflamm 2019;2019:8450947. Epub 2019 Mar 17 doi: 10.1155/2019/8450947. PMID: 31007604Free PMC Article
Senbagavalli P, Geetha ST, Venkatesan P, Ramanathan VD
J Clin Immunol 2009 Sep;29(5):674-80. Epub 2009 May 27 doi: 10.1007/s10875-009-9301-0. PMID: 19472039
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Halperin W, Vogt R, Sweeney MH, Shopp G, Fingerhut M, Petersen M
Occup Environ Med 1998 Nov;55(11):742-9. doi: 10.1136/oem.55.11.742. PMID: 9924450Free PMC Article
Hed J
Acta Paediatr Suppl 1998 Jun;424:37-40. doi: 10.1111/j.1651-2227.1998.tb01231.x. PMID: 9736216

Clinical prediction guides

Antovic A, Mobarrez F, Manojlovic M, Soutari N, De Porta Baggemar V, Nordin A, Bruchfeld A, Vojinovic J, Gunnarsson I
J Rheumatol 2020 May 1;47(5):714-721. Epub 2019 Aug 1 doi: 10.3899/jrheum.181347. PMID: 31371653
Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Zhou H, Li B, Li J, Wu T, Jin X, Yuan R, Shi P, Zhou Y, Li L, Yu F
Mediators Inflamm 2019;2019:8450947. Epub 2019 Mar 17 doi: 10.1155/2019/8450947. PMID: 31007604Free PMC Article
Martinez-Pinna R, Madrigal-Matute J, Tarin C, Burillo E, Esteban-Salan M, Pastor-Vargas C, Lindholt JS, Lopez JA, Calvo E, de Ceniga MV, Meilhac O, Egido J, Blanco-Colio LM, Michel JB, Martin-Ventura JL
Arterioscler Thromb Vasc Biol 2013 Aug;33(8):2013-20. Epub 2013 May 23 doi: 10.1161/ATVBAHA.112.301191. PMID: 23702661
Senbagavalli P, Geetha ST, Venkatesan P, Ramanathan VD
J Clin Immunol 2009 Sep;29(5):674-80. Epub 2009 May 27 doi: 10.1007/s10875-009-9301-0. PMID: 19472039

Recent systematic reviews

Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article

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