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 49 11 67
Complement Component 4a Deficiency 10 67 65
 
Complement Component-4a 11 24
C4ad 67

Characteristics:

HPO:

61
c4a deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614380
Disease Ontology10 DOID:0060297
ICD1027 D84.1
MedGen34 C3280642
MeSH36 D007105
UMLS65 C3280642

Summaries for C4a Deficiency

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UniProtKB/Swiss-Prot:67 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 Component 4A (Rodgers Blood Group)), and among its related pathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include eye, testes and tonsil.

Description from OMIM:49 614380

Related Diseases for C4a Deficiency

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus29.7C3, C4A
2lupus erythematosus10.3
3hepatitis9.8
4hepatitis b9.8
5dermatomyositis9.8
6c4b deficiency9.7C3, C4A
7aapoai amyloidosis9.6C3, C4A
8follicular dendritic cell sarcoma9.6C3, C4A
9newcastle disease9.5C3, C4A
10glycogen storage disease9.4C3, C4A
11tonsil cancer9.3C3, C4A

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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Anatomical Context for C4a Deficiency

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MalaCards organs/tissues related to C4a Deficiency:

33
Eye, Testes, Tonsil

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
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. (12175637)
2002
4
C4A deficiency and nonresponse to hepatitis B vaccination. (12175635)
2002
5
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. (12415592)
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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Biological processes related to C4a Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1complement activationGO:00069569.1C3, C4A
2regulation 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:00048669.1C3, C4A

Sources for C4a Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet