MCID: C4D002
MIFTS: 17

C4a Deficiency malady

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Summaries for C4a Deficiency

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Wikipedia:65 Complement component 4 is a protein involved in the complement system. more...

MalaCards based summary: C4a Deficiency is related to systemic lupus erythematosus and lupus erythematosus, and has symptoms including An important gene associated with C4a Deficiency is C4A (complement component 4A (Rodgers blood group)), and among its related pathways are Allograft rejection and Staphylococcus aureus infection.

Description from OMIM:46 614380

Aliases & Classifications for C4a Deficiency

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C4a Deficiency, Aliases & Descriptions:

Name: C4a Deficiency 46 62


Related Diseases for C4a Deficiency

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Diseases related to C4a Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.7C4A, HLA-DRB1
2lupus erythematosus10.5
3diabetes mellitus10.1HLA-DRB1
4hepatitis10.1
5hepatitis b10.1
6type 1 diabetes mellitus10.0C4A, HLA-DRB1
7hypersensitivity reaction type ii disease10.0C4A, HLA-DRB1

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 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 glomerulonephritis HP:0000099
3 cutaneous photosensitivity HP:0000992
4 vasculitis HP:0002633
5 systemic lupus erythematosus HP:0002725
6 complement deficiency HP:0004431
7 anaphylactoid purpura HP:0200144

Drugs & Therapeutics for C4a Deficiency

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Drug clinical trials:

Search ClinicalTrials for C4a Deficiency

Search NIH Clinical Center for C4a Deficiency

Genetic Tests for C4a Deficiency

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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 13)
idTitleAuthorsYear
1
C4A deficiency in children and adolescents with recurrent respiratory infections. (22406254)
2012
2
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. (12175637)
2002
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
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. (10529130)
1999
6
C4 phenotypes in IgA nephropathy: disease progression associated with C4A deficiency but not with C4 isotype concentrations. (8706353)
1996
7
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. (8341140)
1993
8
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. (8473511)
1993
9
C4A deficiency and poor prognosis in patients with IgA nephropathy. (1889146)
1991
10
DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. (2044237)
1991
11
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. (1976809)
1990
12
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. (2289315)
1990
13
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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Expression patterns in normal tissues for genes affiliated with C4a Deficiency

Search GEO for disease gene expression data for C4a Deficiency.

Pathways for genes affiliated with C4a Deficiency

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Pathways related to C4a Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3C4A, HLA-DRB1
29.3C4A, HLA-DRB1

Compounds for genes affiliated with C4a Deficiency

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GO Terms for genes affiliated with C4a Deficiency

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Products for genes affiliated with C4a Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for C4a Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet