C1QD
MCID: C1Q001
MIFTS: 39

C1q Deficiency (C1QD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for C1q Deficiency

MalaCards integrated aliases for C1q Deficiency:

Name: C1q Deficiency 57 20 72 29 13 6 39 70
C1qd 57 72
Complement Component C1q Deficiency 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
c1q deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613652
MeSH 44 D007105
MedGen 41 C3150902
SNOMED-CT via HPO 68 258211005 55464009 80321008
UMLS 70 C3150902

Summaries for C1q Deficiency

GARD : 20 C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system ). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts ; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.

MalaCards based summary : C1q Deficiency, also known as c1qd, is related to lupus erythematosus and glomerulonephritis. An important gene associated with C1q Deficiency is C1QC (Complement C1q C Chain), and among its related pathways/superpathways are Innate Immune System and Viral mRNA Translation. Affiliated tissues include monocytes, bone marrow and brain, and related phenotypes are systemic lupus erythematosus and membranoproliferative glomerulonephritis

OMIM® : 57 C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). (613652) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Complement component C1q deficiency: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.

Related Diseases for C1q Deficiency

Diseases related to C1q Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 30.2 C1QC C1QB C1QA
2 glomerulonephritis 30.0 C1QC C1QB C1QA
3 vasculitis 29.8 IL6 IFNA2
4 systemic lupus erythematosus 29.1 IL6 IFNA2 C1QC C1QB C1QA
5 exanthem 10.2
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
7 bacterial infectious disease 10.1
8 autoimmune disease 10.0
9 proliferative glomerulonephritis 10.0
10 mesangial proliferative glomerulonephritis 10.0
11 cutaneous lupus erythematosus 10.0 IL6 C1QA
12 rothmund-thomson syndrome, type 2 10.0
13 graft-versus-host disease 10.0
14 complement deficiency 10.0
15 alopecia 10.0
16 macrophage activation syndrome 10.0
17 gorham's disease 9.8 IL6 IFNA2
18 peyronie's disease 9.8 IL6 IFNA2
19 penile disease 9.8 IL6 IFNA2
20 conjunctival disease 9.8 IL6 IFNA2
21 dysentery 9.8 IL6 IFNA2
22 complement component 4, partial deficiency of 9.8
23 proteinuria, chronic benign 9.8
24 c1 inhibitor deficiency 9.8
25 cytomegalovirus retinitis 9.8
26 neuroretinitis 9.8
27 tetanus 9.8
28 crescentic glomerulonephritis 9.8
29 thrombocytopenia 9.8
30 monoclonal paraproteinemia 9.8
31 iga glomerulonephritis 9.8
32 retinitis 9.8
33 pyoderma 9.8
34 pyoderma gangrenosum 9.8
35 herpes simplex 9.8
36 mollaret meningitis 9.8
37 raynaud phenomenon 9.8
38 brain injury 9.8
39 cerebral atrophy 9.8
40 encephalopathy 9.8
41 spasticity 9.8
42 discoid lupus erythematosus 9.8
43 pediatric systemic lupus erythematosus 9.8
44 panuveitis 9.8 IL6 IFNA2
45 uveitis 9.8 IL6 IFNA2
46 polyarteritis nodosa 9.8 IL6 IFNA2
47 cryoglobulinemia 9.8 IL6 IFNA2
48 common cold 9.8 IL6 IFNA2
49 mastocytosis 9.8 IL6 IFNA2
50 stomatitis 9.8 IL6 IFNA2

Graphical network of the top 20 diseases related to C1q Deficiency:



Diseases related to C1q Deficiency

Symptoms & Phenotypes for C1q Deficiency

Human phenotypes related to C1q Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 31 occasional (7.5%) HP:0002725
2 membranoproliferative glomerulonephritis 31 occasional (7.5%) HP:0000793
3 recurrent infections 31 HP:0002719
4 decreased serum complement factor i 31 HP:0005356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
autoimmune disease
systemic lupus erythematosus (in some patients)
c1q deficiency
c1q molecule present, but dysfunctional

Genitourinary Kidneys:
mesangial proliferative glomerulonephritis (in some patients)

Clinical features from OMIM®:

613652 (Updated 20-May-2021)

Drugs & Therapeutics for C1q Deficiency

Search Clinical Trials , NIH Clinical Center for C1q Deficiency

Genetic Tests for C1q Deficiency

Genetic tests related to C1q Deficiency:

# Genetic test Affiliating Genes
1 C1q Deficiency 29 C1QA C1QB C1QC

Anatomical Context for C1q Deficiency

MalaCards organs/tissues related to C1q Deficiency:

40
Monocytes, Bone Marrow, Brain, T Cells

Publications for C1q Deficiency

Articles related to C1q Deficiency:

(show top 50) (show all 139)
# Title Authors PMID Year
1
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. 61 6 57
24160257 2013
2
Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations. 61 6 57
21654842 2011
3
C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations. 57 61 6
17513176 2007
4
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. 57 6 61
9225968 1997
5
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 61 57 6
8840296 1996
6
Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. 57 6 61
8630118 1996
7
Non-sense and missense mutations in the structural genes of complement component C1q A and C chains are linked with two different types of complete selective C1q deficiencies. 61 6 57
7594474 1995
8
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. 61 6 57
7029321 1981
9
Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation. 57 6
24157463 2014
10
A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 57 6
2894352 1988
11
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 57 61
29724957 2018
12
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. 57 61
17890276 2007
13
Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. 61 57
9590289 1998
14
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). 6 61
7900940 1993
15
Non-redundant role of the long pentraxin PTX3 in anti-fungal innate immune response. 57
12432394 2002
16
Summary of reported deficiencies. 57
3562464 1986
17
SLE like syndrome and functional deficiency of C1q in members of a large family. 57
6319055 1984
18
A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. 57
6445507 1980
19
Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus. 61
33000368 2021
20
Efficacy of a sequential treatment by belimumab in monogenic systemic lupus erythematosus. 61
32910770 2020
21
Catastrophes due to missing complements: C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome. 61
31873753 2020
22
Catastrophes due to missing complements: C1q deficiency lupus with Kikuchi-Fujimoto disease and macrophage activation syndrome. 61
32060514 2020
23
SLE: Novel Postulates for Therapeutic Options. 61
33117397 2020
24
Complex medical history of a patient with a compound heterozygous mutation in C1QC. 61
31357913 2019
25
A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-α levels and high serum interferogenic activity. 61
30608615 2019
26
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. 61
31781101 2019
27
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience. 61
30593745 2018
28
Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus. 61
29739689 2018
29
Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance. 61
29795138 2018
30
Systemic lupus erythematosus with C1q deficiency: treatment with fresh frozen plasma. 61
29113537 2018
31
An immunogenic phenotype in paternal antigen-specific CD8+ T cells at embryo implantation elicits later fetal loss in mice. 61
28529323 2017
32
Features of 847 Childhood-Onset Systemic Lupus Erythematosus Patients in Three Age Groups at Diagnosis: A Brazilian Multicenter Study. 61
27014968 2016
33
Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Human C1q Deficiency: The Karolinska Experience. 61
26516671 2016
34
C1q Modulates the Response to TLR7 Stimulation by Pristane-Primed Macrophages: Implications for Pristane-Induced Lupus. 61
26773156 2016
35
C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus. 61
28082982 2016
36
Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway. 61
26941740 2016
37
C1q Deficiency Promotes Pulmonary Vascular Inflammation and Enhances the Susceptibility of the Lung Endothelium to Injury. 61
26487714 2015
38
Classical pathway deficiencies - A short analytical review. 61
26038300 2015
39
C1q rs292001 polymorphism and C1q antibodies in juvenile lupus and their relation to lupus nephritis. 61
26095468 2015
40
Clinical presentation of human C1q deficiency: How much of a lupus? 61
25846716 2015
41
Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency. 61
26119135 2015
42
Association of rs172378 C1q gene cluster polymorphism with lupus nephritis in Bulgarian patients. 61
25326229 2015
43
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections. 61
25454803 2015
44
The complement system in systemic lupus erythematosus: an update. 61
24845390 2014
45
New C1q mutation in a Tunisian family. 61
24331529 2014
46
Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. 61
24035158 2014
47
C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. 61
24474777 2014
48
Complement protein C1q and adiponectin stimulate Mer tyrosine kinase-dependent engulfment of apoptotic cells through a shared pathway. 61
24942043 2014
49
Anti-DNA antibodies cross-react with C1q. 61
23834843 2013
50
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. 61
23651859 2013

Variations for C1q Deficiency

ClinVar genetic disease variations for C1q Deficiency:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1QC NM_172369.5(C1QC):c.213del (p.Gln74fs) Deletion Pathogenic 17069 rs761681612 GRCh37: 1:22973749-22973749
GRCh38: 1:22647256-22647256
2 C1QC NM_172369.5(C1QC):c.205C>T (p.Arg69Ter) SNV Pathogenic 17070 rs377549148 GRCh37: 1:22973743-22973743
GRCh38: 1:22647250-22647250
3 C1QB c.455G-A SNV Pathogenic 17072 GRCh37:
GRCh38:
4 C1QB NM_000491.5(C1QB):c.730G>A (p.Gly244Arg) SNV Pathogenic 440742 rs34813378 GRCh37: 1:22987847-22987847
GRCh38: 1:22661354-22661354
5 C1QA NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) SNV Pathogenic 440740 rs34139950 GRCh37: 1:22965810-22965810
GRCh38: 1:22639317-22639317
6 C1QC NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) SNV Pathogenic 440743 rs752596663 GRCh37: 1:22974028-22974028
GRCh38: 1:22647535-22647535
7 C1QB NM_000491.5(C1QB):c.187+1G>T SNV Pathogenic 440741 rs1361922961 GRCh37: 1:22986137-22986137
GRCh38: 1:22659644-22659644
8 C1QC NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) SNV Pathogenic 17071 rs200206736 GRCh37: 1:22970616-22970616
GRCh38: 1:22644123-22644123
9 C1QB NM_001378156.1(C1QB):c.281del (p.Gly94fs) Deletion Pathogenic 1032389 GRCh37: 1:22987402-22987402
GRCh38: 1:22660909-22660909
10 C1QA NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) SNV Pathogenic 17073 rs121909581 GRCh37: 1:22965784-22965784
GRCh38: 1:22639291-22639291
11 C1QA NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) Indel Likely pathogenic 974838 GRCh37: 1:22965372-22965372
GRCh38: 1:22638879-22638879
12 C1QC NM_172369.5(C1QC):c.538G>A (p.Val180Met) SNV Uncertain significance 1030316 GRCh37: 1:22974076-22974076
GRCh38: 1:22647583-22647583
13 C1QC NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) Indel Uncertain significance 625896 rs1557603993 GRCh37: 1:22970535-22970536
GRCh38: 1:22644042-22644043
14 C1QB NM_000491.5(C1QB):c.223G>A (p.Gly75Arg) SNV Uncertain significance 626067 rs35477594 GRCh37: 1:22987340-22987340
GRCh38: 1:22660847-22660847
15 C1QA NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) SNV Uncertain significance 636701 rs1570073403 GRCh37: 1:22965632-22965632
GRCh38: 1:22639139-22639139
16 C1QB NM_000491.5(C1QB):c.549C>T (p.Asn183=) SNV Likely benign 522248 rs149612866 GRCh37: 1:22987666-22987666
GRCh38: 1:22661173-22661173
17 C1QA NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) SNV Likely benign 522247 rs17887074 GRCh37: 1:22964176-22964176
GRCh38: 1:22637683-22637683

UniProtKB/Swiss-Prot genetic disease variations for C1q Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 C1QB p.Gly42Asp VAR_008541
2 C1QC p.Gly34Arg VAR_008542 rs200206736

Expression for C1q Deficiency

Search GEO for disease gene expression data for C1q Deficiency.

Pathways for C1q Deficiency

Pathways related to C1q Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 IL6 IFNA2 C1QC C1QB C1QA
2
Show member pathways
13.29 IL6 IFNA2 C1QC C1QB C1QA
3
Show member pathways
12.35 IL6 IFNA2 C1QC C1QB C1QA
4
Show member pathways
12.34 IL6 C1QC C1QB C1QA
5
Show member pathways
11.81 C1QC C1QB C1QA
6
Show member pathways
11.74 C1QC C1QB C1QA
7 11.71 C1QC C1QB C1QA
8 11.63 IL6 C1QB
9 11.6 IL6 IFNA2
10 11.48 IL6 IFNA2
11 11.42 C1QC C1QB C1QA
12 11.38 IL6 IFNA2
13
Show member pathways
11.24 C1QC C1QB C1QA
14 11.15 IL6 IFNA2
15 10.81 IL6 C1QC C1QB C1QA

GO Terms for C1q Deficiency

Cellular components related to C1q Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 IL6 IFNA2 C1QC C1QB C1QA
2 synapse GO:0045202 9.54 C1QC C1QB C1QA
3 postsynapse GO:0098794 9.43 C1QC C1QB C1QA
4 blood microparticle GO:0072562 9.4 C1QC C1QB
5 collagen trimer GO:0005581 9.33 C1QC C1QB C1QA
6 collagen-containing extracellular matrix GO:0062023 9.26 IFNA2 C1QC C1QB C1QA
7 complement component C1 complex GO:0005602 8.62 C1QB C1QA

Biological processes related to C1q Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.58 C1QC C1QB C1QA
2 complement activation, classical pathway GO:0006958 9.43 C1QC C1QB C1QA
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.37 IL6 IFNA2
4 regulation of complement activation GO:0030449 9.33 C1QC C1QB C1QA
5 humoral immune response GO:0006959 9.32 IL6 IFNA2
6 complement activation GO:0006956 9.13 C1QC C1QB C1QA
7 synapse pruning GO:0098883 8.8 C1QC C1QB C1QA

Sources for C1q Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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