MCID: C4D002
MIFTS: 29

C4a Deficiency malady

Categories: Genetic diseases (common), Immune diseases

Aliases & Classifications for C4a Deficiency

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Aliases & Descriptions for C4a Deficiency:

Name: C4a Deficiency 52 70 12
Complement Component 4a Deficiency 11 70 27 68
 
Complement Component-4a 12
C4ad 70

Characteristics:

HPO:

64
c4a deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614380
Disease Ontology11 DOID:0060297
ICD1030 D84.1
MedGen37 C3280642
MeSH39 D007105

Summaries for C4a Deficiency

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UniProtKB/Swiss-Prot:70 Complement component 4A deficiency: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.

MalaCards based summary: C4a Deficiency, also known as complement component 4a deficiency, is related to systemic lupus erythematosus and lupus erythematosus, and has symptoms including glomerulonephritis, cutaneous photosensitivity and vasculitis. An important gene associated with C4a Deficiency is C4A (Complement C4A (Rodgers Blood Group)), and among its related pathways are Toxoplasmosis and Tuberculosis. Related mouse phenotype Increased shRNA abundance (Z-score > 2).

Description from OMIM:52 614380

Related Diseases for C4a Deficiency

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Graphical network of diseases related to C4a Deficiency:



Diseases related to c4a deficiency

Symptoms & Phenotypes for C4a Deficiency

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Symptoms by clinical synopsis from OMIM:

614380

Clinical features from OMIM:

614380

Human phenotypes related to C4a Deficiency:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 glomerulonephritis64 HP:0000099
2 cutaneous photosensitivity64 HP:0000992
3 vasculitis64 HP:0002633
4 systemic lupus erythematosus64 HP:0002725
5 complement deficiency64 HP:0004431
6 obsolete anaphylactoid purpura64 HP:0200144

GenomeRNAi Phenotypes related to C4a Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.3C4A, HLA-DRB1

Drugs & Therapeutics for C4a Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for C4a Deficiency

Genetic Tests for C4a Deficiency

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Genetic tests related to C4a Deficiency:

id Genetic test Affiliating Genes
1 Complement Component 4a Deficiency27

Anatomical Context for C4a Deficiency

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Publications for C4a Deficiency

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Articles related to C4a Deficiency:

(show all 14)
idTitleAuthorsYear
1
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. (26493816)
2015
2
C4A deficiency in children and adolescents with recurrent respiratory infections. (22406254)
2012
3
C4A deficiency and nonresponse to hepatitis B vaccination. (12175635)
2002
4
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. (12415592)
2002
5
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. (12175637)
2002
6
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. (10529130)
1999
7
C4 phenotypes in IgA nephropathy: disease progression associated with C4A deficiency but not with C4 isotype concentrations. (8706353)
1996
8
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. (8341140)
1993
9
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. (8473511)
1993
10
C4A deficiency and poor prognosis in patients with IgA nephropathy. (1889146)
1991
11
DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. (2044237)
1991
12
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. (1976809)
1990
13
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. (2289315)
1990
14
Partial C4A deficiency is associated with susceptibility to systemic lupus erythematosus in black Americans. (3262348)
1988

Variations for C4a Deficiency

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Expression for genes affiliated with C4a Deficiency

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Search GEO for disease gene expression data for C4a Deficiency.

Pathways for genes affiliated with C4a Deficiency

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GO Terms for genes affiliated with C4a Deficiency

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Cellular components related to C4a Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.0C3, C4A

Biological processes related to C4a Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1complement activationGO:00069569.7C3, C4A
2complement activation, classical pathwayGO:00069589.7C3, C4A
3inflammatory responseGO:00069549.6C3, C4A
4negative regulation of endopeptidase activityGO:00109519.4C3, C4A
5positive regulation of apoptotic cell clearanceGO:20004279.4C3, C4A
6regulation of complement activationGO:00304499.0C3, C4A

Molecular functions related to C4a Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00048669.6C3, C4A
2serine-type endopeptidase activityGO:00042529.0C3, C4A

Sources for C4a Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet