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 58 54 76 30 13 6 41 74
C1qd 58 76
Complement Component C1q Deficiency 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
c1q deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613652
MeSH 45 D007105
MedGen 43 C3150902
SNOMED-CT via HPO 70 258211005 55464009 80321008
UMLS 74 C3150902

Summaries for C1q Deficiency

NIH Rare Diseases : 54 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 Toll-like Receptor Signaling Pathway. Affiliated tissues include skin, kidney and bone, and related phenotypes are systemic lupus erythematosus and membranoproliferative glomerulonephritis

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 33 occasional (7.5%) HP:0002725
2 membranoproliferative glomerulonephritis 33 occasional (7.5%) HP:0000793
3 recurrent infections 33 HP:0002719
4 decreased serum complement factor i 33 HP:0005356

Symptoms via clinical synopsis from OMIM:

58
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

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 30 C1QA C1QB C1QC

Anatomical Context for C1q Deficiency

MalaCards organs/tissues related to C1q Deficiency:

42
Skin, Kidney, Bone, Bone Marrow, Lung, Brain

Publications for C1q Deficiency

Articles related to C1q Deficiency:

(show top 50) (show all 55)
# Title Authors Year
1
A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-α levels and high serum interferogenic activity. ( 30608615 )
2019
2
Systemic lupus erythematosus with C1q deficiency: treatment with fresh frozen plasma. ( 29113537 )
2018
3
Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Human C1q Deficiency: The Karolinska Experience. ( 26516671 )
2016
4
C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus. ( 28082982 )
2016
5
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections. ( 25454803 )
2015
6
Clinical presentation of human C1q deficiency: How much of a lupus? ( 25846716 )
2015
7
C1q Deficiency Promotes Pulmonary Vascular Inflammation and Enhances the Susceptibility of the Lung Endothelium to Injury. ( 26487714 )
2015
8
Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. ( 24035158 )
2014
9
Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation. ( 24157463 )
2014
10
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. ( 23651859 )
2013
11
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. ( 24160257 )
2013
12
Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. ( 22472776 )
2012
13
C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma. ( 22576477 )
2012
14
Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus. ( 21303486 )
2011
15
Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations. ( 21654842 )
2011
16
Infantile case of early manifestation of SLE-like symptoms in complete C1q deficiency. ( 22041880 )
2011
17
SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience. ( 19965977 )
2010
18
Hereditary C1q deficiency: a new family with C1qA deficiency. ( 20560256 )
2010
19
Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. ( 20635792 )
2010
20
C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. ( 20844193 )
2010
21
A patient with hereditary C1q deficiency. ( 21428208 )
2010
22
C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis. ( 19790049 )
2009
23
C1q deficiency promotes the production of transgenic-derived IgM and IgG3 autoantibodies in anti-DNA knock-in transgenic mice. ( 17675234 )
2008
24
Extensive ulcerations due to pyoderma gangrenosum in a child with juvenile systemic lupus erythematosus and C1q deficiency. ( 19011311 )
2008
25
C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations. ( 17513176 )
2007
26
Pediatric systemic lupus erythematosus with C1q deficiency. ( 17893985 )
2007
27
C1q-deficiency is neuroprotective against hypoxic-ischemic brain injury in neonatal mice. ( 16179576 )
2005
28
Restoration of C1q levels by bone marrow transplantation attenuates autoimmune disease associated with C1q deficiency in mice. ( 15517607 )
2004
29
Hereditary C1q deficiency and secondary Sjögren's syndrome. ( 15479911 )
2004
30
C1q deficiency and autoimmunity: the effects of genetic background on disease expression. ( 11859149 )
2002
31
Acquired C1q deficiency caused by monoclonal paraproteinaemia. ( 10713650 )
2000
32
Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency. ( 10728448 )
2000
33
Systemic lupus erythematosus with C1q deficiency. ( 10735963 )
2000
34
Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey. ( 10776791 )
2000
35
Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. ( 9590289 )
1998
36
Molecular basis of hereditary C1q deficiency. ( 9777412 )
1998
37
Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency. ( 9039514 )
1997
38
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. ( 9225968 )
1997
39
Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects. ( 9476130 )
1997
40
Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. ( 8630118 )
1996
41
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. ( 8840296 )
1996
42
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. ( 7594474 )
1995
43
Hereditary C1q deficiency and systemic lupus erythematosus. ( 7922299 )
1994
44
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). ( 7900940 )
1993
45
Studies of immune response in a patient with selective complete C1q deficiency. ( 8165758 )
1993
46
Family study of natural killer cell activity in C1q-deficient patients with systemic lupus erythematosus-like syndrome: association between impaired natural killer cell function and C1q deficiency. ( 2625354 )
1989
47
A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. ( 2894352 )
1988
48
Selective C1q deficiency in a patient with systemic lupus erythematosus. ( 3498507 )
1987
49
A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE). ( 6980744 )
1982
50
Structural and functional studies in C1q deficiency. ( 6980939 )
1982

Variations for C1q Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 C1QB p.Gly42Asp VAR_008541
2 C1QC p.Gly34Arg VAR_008542 rs200206736

ClinVar genetic disease variations for C1q Deficiency:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QC NM_172369.4(C1QC): c.213delC (p.Gln74Argfs) deletion Pathogenic rs761681612 GRCh38 Chromosome 1, 22647258: 22647258
2 C1QC NM_172369.4(C1QC): c.213delC (p.Gln74Argfs) deletion Pathogenic rs761681612 GRCh37 Chromosome 1, 22973751: 22973751
3 C1QC NM_172369.4(C1QC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs377549148 GRCh38 Chromosome 1, 22647250: 22647250
4 C1QC NM_172369.4(C1QC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs377549148 GRCh37 Chromosome 1, 22973743: 22973743
5 C1QC NM_172369.4(C1QC): c.100G> A (p.Gly34Arg) single nucleotide variant Pathogenic rs200206736 GRCh38 Chromosome 1, 22644123: 22644123
6 C1QC NM_172369.4(C1QC): c.100G> A (p.Gly34Arg) single nucleotide variant Pathogenic rs200206736 GRCh37 Chromosome 1, 22970616: 22970616
7 C1QB c.455G-A single nucleotide variant Pathogenic
8 C1QA NM_015991.3(C1QA): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs121909581 GRCh37 Chromosome 1, 22965784: 22965784
9 C1QA NM_015991.3(C1QA): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs121909581 GRCh38 Chromosome 1, 22639291: 22639291
10 C1QA NM_015991.3(C1QA): c.648G> A (p.Trp216Ter) single nucleotide variant Pathogenic rs34139950 GRCh38 Chromosome 1, 22639317: 22639317
11 C1QA NM_015991.3(C1QA): c.648G> A (p.Trp216Ter) single nucleotide variant Pathogenic rs34139950 GRCh37 Chromosome 1, 22965810: 22965810
12 C1QB NM_000491.4(C1QB): c.187+1G> T single nucleotide variant Pathogenic rs1361922961 GRCh38 Chromosome 1, 22659644: 22659644
13 C1QB NM_000491.4(C1QB): c.187+1G> T single nucleotide variant Pathogenic rs1361922961 GRCh37 Chromosome 1, 22986137: 22986137
14 C1QB NM_000491.4(C1QB): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs34813378 GRCh38 Chromosome 1, 22661354: 22661354
15 C1QB NM_000491.4(C1QB): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs34813378 GRCh37 Chromosome 1, 22987847: 22987847
16 C1QC NM_172369.4(C1QC): c.490G> A (p.Gly164Ser) single nucleotide variant Pathogenic rs752596663 GRCh38 Chromosome 1, 22647535: 22647535
17 C1QC NM_172369.4(C1QC): c.490G> A (p.Gly164Ser) single nucleotide variant Pathogenic rs752596663 GRCh37 Chromosome 1, 22974028: 22974028
18 C1QA NM_015991.3(C1QA): c.67G> A (p.Glu23Lys) single nucleotide variant Likely benign rs17887074 GRCh37 Chromosome 1, 22964176: 22964176
19 C1QA NM_015991.3(C1QA): c.67G> A (p.Glu23Lys) single nucleotide variant Likely benign rs17887074 GRCh38 Chromosome 1, 22637683: 22637683
20 C1QB NM_000491.4(C1QB): c.549C> T (p.Asn183=) single nucleotide variant Likely benign rs149612866 GRCh37 Chromosome 1, 22987666: 22987666
21 C1QB NM_000491.4(C1QB): c.549C> T (p.Asn183=) single nucleotide variant Likely benign rs149612866 GRCh38 Chromosome 1, 22661173: 22661173
22 C1QC NM_001114101.2(C1QC): c.19_20delTCinsAA (p.Ser7Asn) indel Uncertain significance GRCh37 Chromosome 1, 22970535: 22970536
23 C1QC NM_001114101.2(C1QC): c.19_20delTCinsAA (p.Ser7Asn) indel Uncertain significance GRCh38 Chromosome 1, 22644042: 22644043
24 C1QB NM_000491.5(C1QB): c.223G> A (p.Gly75Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 22987340: 22987340
25 C1QB NM_000491.5(C1QB): c.223G> A (p.Gly75Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 22660847: 22660847

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 C1QA C1QB C1QC IFNA2 IL6
2
Show member pathways
12.49 C1QA C1QB C1QC IFNA2 IL6
3
Show member pathways
11.87 IFNA2 IL6
4 11.8 IFNA2 IL6
5
Show member pathways
11.77 C1QA C1QB C1QC
6 11.72 C1QA C1QB C1QC
7
Show member pathways
11.67 C1QA C1QB C1QC
8 11.6 C1QB IL6
9 11.57 IFNA2 IL6
10
Show member pathways
11.52 C1QA C1QB C1QC
11 11.48 IFNA2 IL6
12 11.36 IFNA2 IL6
13 11.27 C1QA C1QB C1QC
14 11.14 C1QA C1QB C1QC IL6
15 11.09 IFNA2 IL6
16 10.47 C1QA C1QB C1QC IL6

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 9.65 C1QA C1QB C1QC IFNA2 IL6
2 collagen trimer GO:0005581 9.33 C1QA C1QB C1QC
3 blood microparticle GO:0072562 9.32 C1QB C1QC
4 collagen-containing extracellular matrix GO:0062023 9.26 C1QA C1QB C1QC IFNA2
5 complement component C1 complex GO:0005602 8.62 C1QA C1QB

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 9.54 C1QA C1QB C1QC
2 defense response to virus GO:0051607 9.4 IFNA2 IL6
3 complement activation, classical pathway GO:0006958 9.33 C1QA C1QB C1QC
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.32 IFNA2 IL6
5 humoral immune response GO:0006959 9.26 IFNA2 IL6
6 regulation of complement activation GO:0030449 9.13 C1QA C1QB C1QC
7 complement activation GO:0006956 8.8 C1QA C1QB C1QC

Sources for C1q Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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