MCID: C4D002
MIFTS: 30

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 leukemia, 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 and testes.

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 17)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus29.7C3, C4A
2leukemia10.1
3lymphoblastic leukemia10.1
4ovarian cancer10.1
5epidermolysis bullosa10.1
6neurilemmoma10.1
7retinitis10.1
8epidermolysis bullosa acquisita10.1
9lupus erythematosus10.1
10keratoconjunctivitis10.1
11aminoaciduria10.1
12c4b deficiency9.8C3, C4A
13aapoai amyloidosis9.8C3, C4A
14follicular dendritic cell sarcoma9.7C3, C4A
15newcastle disease9.7C3, C4A
16glycogen storage disease9.6C3, C4A
17tonsil cancer9.5C3, 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

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
Correlation of HIWI and HILI Expression with Cancer Stem Cell Markers in Colorectal Cancer. (26026091)
2015
2
The Relationship Between Young Adult Smokers' Beliefs About Nicotine Addiction and Smoking-Related Affect and Cognitions. (25903051)
2015
3
Sortilin mediates the release and transfer of exosomes in concert with two tyrosine kinase receptors. (25037567)
2014
4
P2RY12 gene polymorphisms and effect of clopidogrel on platelet aggregation. (23940995)
2013
5
Blunt abdominal trauma to a pregnant woman resulting in a child with hemiplegic spastic cerebral palsy and permanent eye damage. (24314440)
2013
6
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
2013
7
Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population. (20146887)
2009
8
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. (17341397)
2007
9
Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection. (15729370)
2005
10
Platelet activating factor inhibits the expression of matrix metalloproteinases and affects invasiveness and differentiation in a system of human neuroblastoma clones. (11928813)
2002
11
Myxobolus species (Myxozoa), parasites of fishes in the Okavango River and Delta, Botswana, including descriptions of two new species. (12194493)
2002
12
Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. (9667600)
1998
13
Arterial ageing of aorta and atherosclerosis--with special reference to elastin]. (7643469)
1995
14
Cranial computed tomography in a patient with a variant form of maple syrup urine disease. (6877525)
1983

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