Aliases & Classifications for C1q Deficiency

MalaCards integrated aliases for C1q Deficiency:

Name: C1q Deficiency 57 53 75 29 13 6 40 73
C1qd 57 75
Complement Component C1q Deficiency 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
c1q deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613652
MedGen 42 C3150902
MeSH 44 D007105
SNOMED-CT via HPO 69 258211005 80321008 55464009
UMLS 73 C3150902

Summaries for C1q Deficiency

NIH Rare Diseases : 53 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 glomerulonephritis and lupus erythematosus. 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 membranoproliferative glomerulonephritis and recurrent infections

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)

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
mesangial proliferative glomerulonephritis (in some patients)

Immunology:
systemic lupus erythematosus (in some patients)
autoimmune disease
c1q deficiency
c1q molecule present, but dysfunctional


Clinical features from OMIM:

613652

Human phenotypes related to C1q Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 membranoproliferative glomerulonephritis 32 occasional (7.5%) HP:0000793
2 recurrent infections 32 HP:0002719
3 systemic lupus erythematosus 32 occasional (7.5%) HP:0002725
4 decreased serum complement factor i 32 HP:0005356

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:

41
Skin, Kidney, Bone, Lung, Bone Marrow

Publications for C1q Deficiency

Articles related to C1q Deficiency:

(show all 50)
# Title Authors Year
1
Systemic lupus erythematosus with C1q deficiency: treatment with fresh frozen plasma. ( 29113537 )
2018
2
C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus. ( 28082982 )
2016
3
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections. ( 25454803 )
2015
4
C1q Deficiency Promotes Pulmonary Vascular Inflammation and Enhances the Susceptibility of the Lung Endothelium to Injury. ( 26487714 )
2015
5
Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Human C1q Deficiency: The Karolinska Experience. ( 26516671 )
2015
6
Clinical presentation of human C1q deficiency: How much of a lupus? ( 25846716 )
2015
7
Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. ( 24035158 )
2014
8
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy. ( 23651859 )
2013
9
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. ( 24160257 )
2013
10
Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. ( 22472776 )
2012
11
C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma. ( 22576477 )
2012
12
Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations. ( 21654842 )
2011
13
Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus. ( 21303486 )
2011
14
Infantile case of early manifestation of SLE-like symptoms in complete C1q deficiency. ( 22041880 )
2011
15
Hereditary C1q deficiency: a new family with C1qA deficiency. ( 20560256 )
2010
16
Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. ( 20635792 )
2010
17
SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience. ( 19965977 )
2010
18
A patient with hereditary C1q deficiency. ( 21428208 )
2010
19
C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. ( 20844193 )
2010
20
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
21
Extensive ulcerations due to pyoderma gangrenosum in a child with juvenile systemic lupus erythematosus and C1q deficiency. ( 19011311 )
2008
22
C1q deficiency promotes the production of transgenic-derived IgM and IgG3 autoantibodies in anti-DNA knock-in transgenic mice. ( 17675234 )
2008
23
Pediatric systemic lupus erythematosus with C1q deficiency. ( 17893985 )
2007
24
C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations. ( 17513176 )
2007
25
Restoration of C1q levels by bone marrow transplantation attenuates autoimmune disease associated with C1q deficiency in mice. ( 15517607 )
2004
26
Hereditary C1q deficiency and secondary SjAPgren's syndrome. ( 15479911 )
2004
27
C1q deficiency and autoimmunity: the effects of genetic background on disease expression. ( 11859149 )
2002
28
Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency. ( 10728448 )
2000
29
Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey. ( 10776791 )
2000
30
Systemic lupus erythematosus with C1q deficiency. ( 10735963 )
2000
31
Acquired C1q deficiency caused by monoclonal paraproteinaemia. ( 10713650 )
2000
32
Molecular basis of hereditary C1q deficiency. ( 9777412 )
1998
33
Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. ( 9590289 )
1998
34
Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency. ( 9039514 )
1997
35
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
36
Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. ( 8630118 )
1996
37
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. ( 8840296 )
1996
38
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
39
Hereditary C1q deficiency and systemic lupus erythematosus. ( 7922299 )
1994
40
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). ( 7900940 )
1993
41
Studies of immune response in a patient with selective complete C1q deficiency. ( 8165758 )
1993
42
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
43
Selective C1q deficiency in a patient with systemic lupus erythematosus. ( 3498507 )
1987
44
Structural and functional studies in C1q deficiency. ( 6980939 )
1982
45
A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE). ( 6980744 )
1982
46
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. ( 7029321 )
1981
47
Familial C1q deficiency associated with renal and cutaneous disease. ( 6790209 )
1981
48
Immunochemical and functional analysis of a complete C1q deficiency in man: evidence that C1r and C1s are in the native form, and that they reassociate with purified C1q to form macromolecular C1. ( 7350234 )
1980
49
Clinical and immunological studies in a case of selective complete C1q deficiency. ( 527255 )
1979
50
C1q deficiency associated with urticarial-like lesions and cutaneous vasculitis. ( 973650 )
1976

Variations for C1q Deficiency

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

75
# 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 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QA NM_015991.3(C1QA): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs121909581 GRCh38 Chromosome 1, 22639291: 22639291
2 C1QC NM_172369.4(C1QC): c.213delC (p.Gln74Argfs) deletion Pathogenic rs761681612 GRCh38 Chromosome 1, 22647258: 22647258
3 C1QC NM_172369.4(C1QC): c.213delC (p.Gln74Argfs) deletion Pathogenic rs761681612 GRCh37 Chromosome 1, 22973751: 22973751
4 C1QC NM_172369.4(C1QC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs377549148 GRCh38 Chromosome 1, 22647250: 22647250
5 C1QC NM_172369.4(C1QC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs377549148 GRCh37 Chromosome 1, 22973743: 22973743
6 C1QC NM_172369.4(C1QC): c.100G> A (p.Gly34Arg) single nucleotide variant Pathogenic rs200206736 GRCh38 Chromosome 1, 22644123: 22644123
7 C1QC NM_172369.4(C1QC): c.100G> A (p.Gly34Arg) single nucleotide variant Pathogenic rs200206736 GRCh37 Chromosome 1, 22970616: 22970616
8 C1QB c.455G-A single nucleotide variant Pathogenic
9 C1QA NM_015991.3(C1QA): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs121909581 GRCh37 Chromosome 1, 22965784: 22965784
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 GRCh38 Chromosome 1, 22659644: 22659644
13 C1QB NM_000491.4(C1QB): c.187+1G> T single nucleotide variant Pathogenic 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

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 C1QA C1QB C1QC IFNA2 IL6
2
Show member pathways
12.41 C1QA C1QB C1QC IFNA2 IL6
3 11.8 IFNA2 IL6
4
Show member pathways
11.77 C1QA C1QB C1QC
5 11.72 C1QA C1QB C1QC
6
Show member pathways
11.67 C1QA C1QB C1QC
7 11.6 C1QB IL6
8 11.57 IFNA2 IL6
9
Show member pathways
11.52 C1QA C1QB C1QC
10 11.48 IFNA2 IL6
11 11.35 IFNA2 IL6
12 11.18 C1QA C1QB C1QC
13 11.14 C1QA C1QB C1QC IL6
14 11.08 IFNA2 IL6
15 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 extracellular space GO:0005615 9.55 C1QA C1QB C1QC IFNA2 IL6
3 blood microparticle GO:0072562 9.32 C1QB C1QC
4 collagen trimer GO:0005581 9.13 C1QA C1QB C1QC
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 proteolysis GO:0006508 9.58 C1QA C1QB C1QC
2 innate immune response GO:0045087 9.46 C1QA C1QB C1QC IFNA2
3 defense response to virus GO:0051607 9.43 IFNA2 IL6
4 complement activation, classical pathway GO:0006958 9.43 C1QA C1QB C1QC
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.37 IFNA2 IL6
6 humoral immune response GO:0006959 9.32 IFNA2 IL6
7 regulation of complement activation GO:0030449 9.13 C1QA C1QB C1QC
8 complement activation GO:0006956 8.8 C1QA C1QB C1QC

Molecular functions related to C1q Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 C1QA C1QB C1QC

Sources for C1q Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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