Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary complement disorders

Hereditary disturbances of the complemet system includes dysfunction of proteins that form the complex regulatory system. Dysfunctions may result in impaired defense against infections or autoaggresive reactions.

Systematic

Hereditary immunological disorders
Atopy
Chronic inflammatory disorders
Hereditary complement disorders
CR1 deficiency
CR1
Complement C2 deficiency
C2
Complement C3 deficiency
C3
Complement C5 deficiency
C5
Complement C6 deficiency
C6
Complement C7 deficiency
C7
Complement C8 deficiency
C8G
Complement C8 deficiency type 1
C8A
Complement C8 deficiency type 2
C8B
Complement C9 deficiency
C9
Complement component C4 deficiency
Complement component C4A deficiency
C4A
Complement component C4B deficiency
C4B
Partial complement component C4 deficiency
SERPING1
Complement factor D deficiency
CFD
Complement factor I deficiency
CFI
Early pathway complement deficiencies
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1r/C1s deficiency
C1R
Complement component C1s deficiency
C1S
Hereditary Angioedema
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
SERPING1
Hereditary Angioedema 3
F12
Properdin deficiency, X-linked
CFP
Terminal pathway complement deficiencies
Thrombotic microangiopathies
Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
PLG
THBD
Poor response to Eculizumab
C5
Thrombotic Thrombocytopenic Purpura
ADAMTS13
Immunoglobulin disorders
Primary immunodeficiency
Susceptibility to allergic rhinitis
Susceptibility to asthma

References:

1.

Lipsker D et al. (2010) Cutaneous manifestations of complement deficiencies.

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2.

Mayilyan KR et al. (2012) Complement genetics, deficiencies, and disease associations.

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3.

Laursen NS et al. (2012) Structure, function and control of complement C5 and its proteolytic fragments.

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4.

de Cordoba SR et al. (2012) Complement dysregulation and disease: from genes and proteins to diagnostics and drugs.

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5.

Tichaczek-Goska D et al. () Deficiencies and excessive human complement system activation in disorders of multifarious etiology.

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6.

Grumach AS et al. (2014) Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach.

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Update: Sept. 26, 2018