MCID: C4D002
MIFTS: 31

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 50 68 12
Complement Component 4a Deficiency 11 68 25 66
 
Complement Component-4a 12
C4ad 68

Characteristics:

HPO:

62
c4a deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614380
Disease Ontology11 DOID:0060297
ICD1028 D84.1
MedGen35 C3280642
MeSH37 D007105

Summaries for C4a Deficiency

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UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 614380

Related Diseases for C4a Deficiency

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Graphical network of diseases related to C4a Deficiency:



Diseases related to c4a deficiency

Symptoms for C4a Deficiency

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Symptoms by clinical synopsis from OMIM:

614380

Clinical features from OMIM:

614380

HPO human phenotypes related to C4a Deficiency:

(show all 6)
id Description Frequency HPO Source Accession
1 glomerulonephritis HP:0000099
2 cutaneous photosensitivity HP:0000992
3 vasculitis HP:0002633
4 systemic lupus erythematosus HP:0002725
5 complement deficiency HP:0004431
6 obsolete anaphylactoid purpura HP:0200144

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 Deficiency25

Anatomical Context for C4a Deficiency

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Animal Models for C4a Deficiency or affiliated genes

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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
1positive regulation of apoptotic cell clearanceGO:20004279.6C3, C4A
2complement activationGO:00069569.5C3, C4A
3regulation of complement activationGO:00304499.5C3, C4A
4complement activation, classical pathwayGO:00069589.5C3, C4A
5negative regulation of endopeptidase activityGO:00109519.4C3, C4A
6inflammatory responseGO:00069549.0C3, C4A

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00048669.3C3, C4A
2serine-type endopeptidase activityGO:00042529.0C3, C4A

Sources for C4a Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet