Version May 2024
| Disease | Genetic defect | Inheritance | OMIM | Laboratory features | Associated features |
| C1q deficiency due to defects | Complement C1q A chain (C1QA) | AR | 120550 | Absent CH50 hemolytic activity, defective activation of the classical pathway, diminished clearance of apoptotic cells | SLE, infections with encapsulated organisms |
| Complement C1q B chain (C1QB) | AR | 120570 | Absent CH50 hemolytic activity, defective activation of the classical pathway, diminished clearance of apoptotic cells | SLE, infections with encapsulated organisms | |
| Complement C1q C chain (C1QC) | AR | 120575 | Absent CH50 hemolytic activity, defective activation of the classical pathway, diminished clearance of apoptotic cells | SLE, infections with encapsulated organisms | |
| C1r deficiency | Complement C1r (C1R) | AR | 613785 | Absent CH50 hemolytic activity, defective activation of the classical pathway | SLE, infections with encapsulated organisms, Ehlers-Danlos phenotype |
| C1r periodontal Ehlers-Danlos | Complement C1r (C1R) | AD GOF | 613785 | Normal CH50 | Hyperpigmentation, skin fragility |
| C1s deficiency | Complement C1s (C1S) | AR | 613785 | Absent CH50 hemolytic activity, defective activation of the classical pathway | SLE, infections with encapsuled organisms, Ehlers-Danlos phenotype |
| C1s periodontal Ehlers-Danlos | Complement C1s (C1S) | AD GOF | 613785 | Normal CH50 | Hyperpigmentation, skin fragility |
| Complete C4 deficiency | Complement C4A (Rodgers blood group; C4A) + complement C4B (Chido blood group; C4B) | AR | 120810 | Absent CH50 hemolytic activity, defective activation of the classical pathway, complete deficiency requires biallelic mutations/deletions/conversions of both C4A and C4B | SLE, infections with encapsulated organisms, partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense |
| C2 deficiency | Complement C2 (C2) | AR | 217000 | Absent CH50 hemolytic activity, defective activation of the classical pathway | SLE, infections with encapsulated organisms, atherosclerosis |
| C3 deficiency (LOF) | Complement C3 (C3) | AR | 120700 | Absent CH50 and AH50 hemolytic activity, defective opsonization, defective humoral immune response | Infections, glomerulonephritis, aHUS, with GOF mutation |
| C3 GOF | Complement C3 (C3) | AD GOF | 120700 | Increased activation of complement | aHUS |
| C5 deficiency | Complement C5 (C5) | AR | 120900 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C6 deficiency | Complement C6 (C6) | AR | 217050 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C7 deficiency | Complement C7 (C7) | AR | 217070 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C8 alpha deficiency | Complement C8 alpha chain (C8A) | AR | 120950 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C8 gamma deficiency | Complement C8 gamma chain (C8G) | AR | 120930 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C8 beta deficiency | Complement C8 beta chain (C8B) | AR | 120960 | Absent CH50 and AH50 hemolytic activity, defective bactericidal activity | Disseminated neisserial infections |
| C9 deficiency | Complement C9 (C9) | AR | 120940 | Reduced CH50 and AP50 hemolytic activity, deficient bactericidal activity | Mild susceptibility to disseminated neisserial infections |
| MASP2 deficiency | MBL-associated serine protease 2 (MASP2) | AR | 605102 | Deficient activation of the lectin activation pathway | Pyogenic infections, inflammatory lung disease, autoimmunity |
| Ficolin 3 deficiency | Ficolin 3 (FCN3) | AR | 604973 | Absence of complement activation by the ficolin 3 pathway | Respiratory infections, abscesses |
| C1 inhibitor deficiency | Serpin family G member 1 (SERPING1) | AD | 606860 | Spontaneous activation of the complement pathway with consumption of C4/C2, spontaneous activation of the contact system with generation of bradykinin from high-molecular-weight kininogen | Hereditary angioedema |
| Factor B GOF | Complement factor B (CFB) | AD GOF | 612924 | GOF mutation with increased spontaneous AH50 | aHUS |
| Factor B deficiency | Complement factor B (CFB) | AR | 615561 | Deficient activation of the alternative pathway | Infections with encapsulated organisms |
| Factor D deficiency | Complement factor D (CFD) | AR | 134350 | Absent AH50 hemolytic activity | Neisserial infections |
| Properdin deficiency | Complement factor properdin (CFP) | XL | 300383 | Absent AH50 hemolytic activity | Neisserial infections |
| Factor I deficiency | Complement factor I (CFI) | AR | 217030 | Spontaneous activation of the alternative complement pathway with consumption of C3 | Infections, disseminated neisserial infections, aHUS, preeclampsia |
| Factor H deficiency | Complement factor H (CFH) | AR or AD | 134370 | Spontaneous activation of the alternative complement pathway with consumption of C3 | Infections, disseminated neisserial infections, aHUS, preeclampsia |
| Factor H-related protein deficiencies | Complement factor H-related 1 (CFHR1) | AR or AD | 134371 | Normal CH50 and AH50, autoantibodies to factor H, linked deletions of one or more CFHR genes leads to susceptibility to autoantibody-mediated aHUS | Older-onset aHUS, disseminated neisserial infections |
| Complement factor H-related 2 (CFHR2) | AR or AD | 600889 | Normal CH50 and AH50, autoantibodies to factor H, linked deletions of one or more CFHR genes leads to susceptibility to autoantibody-mediated aHUS | Older-onset aHUS, disseminated neisserial infections | |
| Complement factor H-related 3 (CFHR3) | AR or AD | 605336 | Normal CH50 and AH50, autoantibodies to factor H, linked deletions of one or more CFHR genes leads to susceptibility to autoantibody-mediated aHUS | Older-onset aHUS, disseminated neisserial infections | |
| Complement factor H-related 4 (CFHR4) | AR or AD | 605337 | Normal CH50 and AH50, autoantibodies to factor H, linked deletions of one or more CFHR genes leads to susceptibility to autoantibody-mediated aHUS | Older-onset aHUS, disseminated neisserial infections | |
| Complement factor H-related 5 (CFHR5) | AR or AD | 608593 | Normal CH50 and AH50, autoantibodies to factor H, linked deletions of one or more CFHR genes leads to susceptibility to autoantibody-mediated aHUS | Older-onset aHUS, disseminated neisserial infections | |
| Thrombomodulin deficiency | Thrombomodulin (THBD) | AD | 188040 | Normal CH50 and AH50 | aHUS |
| Membrane cofactor protein (CD46) deficiency | CD46 molecule (CD46) | AD | 120920 | Inhibitor of complement alternate pathway, decreased C3b binding | aHUS, infections, preeclampsia |
| Membrane attack complex inhibitor (CD59) deficiency | CD59 molecule (CD59 blood group; CD59) | AR | 107271 | Erythrocytes highly susceptible to complement-mediated lysis | Hemolytic anemia, polyneuropathy |
| CD55 deficiency (CHAPLE disease) | CD55 molecule (Cromer blood group; CD55) | AR | 125240 | Hyperactivation of complement on endothelium | Protein-losing enteropathy, thrombosis |
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