MCID: IMM128
MIFTS: 20

Immunodeficiency Due to a Late Component of Complement Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency Due to a Late Component of Complement...

MalaCards integrated aliases for Immunodeficiency Due to a Late Component of Complement Deficiency:

Name: Immunodeficiency Due to a Late Component of Complement Deficiency 60 6
Immunodeficiency Due to C5 to C9 Component Complement Deficiency 60
Terminal Complement Pathway Deficiency 60

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D84.1
Orphanet 60 ORPHA169150

Summaries for Immunodeficiency Due to a Late Component of Complement...

MalaCards based summary : Immunodeficiency Due to a Late Component of Complement Deficiency, also known as immunodeficiency due to c5 to c9 component complement deficiency, is related to complement deficiency and complement component 6 deficiency. An important gene associated with Immunodeficiency Due to a Late Component of Complement Deficiency is C6 (Complement C6), and among its related pathways/superpathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3.

Related Diseases for Immunodeficiency Due to a Late Component of Complement...

Diseases related to Immunodeficiency Due to a Late Component of Complement Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 complement deficiency 10.0 C5 C7
2 complement component 6 deficiency 10.0 C6 LOC105374739
3 complement component 5 deficiency 9.9 C5 C9
4 neisseria meningitidis infection 9.9
5 monkeypox 9.8 C6 C8A
6 meningococcal meningitis 9.8 C6 C7
7 complement component 8 deficiency 9.7 C8A C8B

Graphical network of the top 20 diseases related to Immunodeficiency Due to a Late Component of Complement Deficiency:



Diseases related to Immunodeficiency Due to a Late Component of Complement Deficiency

Symptoms & Phenotypes for Immunodeficiency Due to a Late Component of Complement...

Drugs & Therapeutics for Immunodeficiency Due to a Late Component of Complement...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency Due to a Late Component of Complement Deficiency

Genetic Tests for Immunodeficiency Due to a Late Component of Complement...

Anatomical Context for Immunodeficiency Due to a Late Component of Complement...

Publications for Immunodeficiency Due to a Late Component of Complement...

Variations for Immunodeficiency Due to a Late Component of Complement...

ClinVar genetic disease variations for Immunodeficiency Due to a Late Component of Complement Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C6 NM_000065.3(C6): c.1879delG (p.Asp627Thrfs) deletion Pathogenic rs61469168 GRCh37 Chromosome 5, 41158865: 41158865
2 C6 NM_000065.3(C6): c.1879delG (p.Asp627Thrfs) deletion Pathogenic rs61469168 GRCh38 Chromosome 5, 41158763: 41158763
3 C5 NM_001735.2(C5): c.4336delG (p.Val1446Trpfs) deletion Likely pathogenic rs1554718962 GRCh37 Chromosome 9, 123725233: 123725233
4 C5 NM_001735.2(C5): c.4336delG (p.Val1446Trpfs) deletion Likely pathogenic rs1554718962 GRCh38 Chromosome 9, 120962955: 120962955

Expression for Immunodeficiency Due to a Late Component of Complement...

Search GEO for disease gene expression data for Immunodeficiency Due to a Late Component of Complement Deficiency.

Pathways for Immunodeficiency Due to a Late Component of Complement...

Pathways related to Immunodeficiency Due to a Late Component of Complement Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 C5 C6 C7 C8A C8B C8G
2
Show member pathways
13.37 C5 C6 C7 C8A C8B C8G
3
Show member pathways
12.03 C5 C6 C7 C8A C8B C8G
4 11.94 C5 C6 C7 C8A C8B C8G
5
Show member pathways
11.83 C5 C6 C7 C8A C8B C8G
6 11.65 C8A C8B C8G C9
7
Show member pathways
11.53 C5 C6 C7 C8A C8B C8G
8 10.71 C5 C6 C7 C8A C8B C8G

GO Terms for Immunodeficiency Due to a Late Component of Complement...

Cellular components related to Immunodeficiency Due to a Late Component of Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 C5 C8A C8B C8G C9
2 extracellular region GO:0005576 9.7 C5 C6 C7 C8A C8B C8G
3 extracellular exosome GO:0070062 9.5 C5 C6 C7 C8A C8B C8G
4 blood microparticle GO:0072562 9.43 C8A C8G C9
5 membrane attack complex GO:0005579 9.17 C5 C6 C7 C8A C8B C8G

Biological processes related to Immunodeficiency Due to a Late Component of Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.87 C5 C6 C7 C8A C8B C8G
2 immune system process GO:0002376 9.83 C5 C6 C8A C8G C9
3 immune response GO:0006955 9.8 C6 C7 C8A C8B C9
4 complement activation, classical pathway GO:0006958 9.8 C5 C6 C7 C8A C8B C8G
5 complement activation GO:0006956 9.77 C5 C6 C7 C8A C8B
6 regulation of complement activation GO:0030449 9.7 C5 C6 C7 C8A C8B C8G
7 cytolysis GO:0019835 9.5 C5 C6 C7 C8A C8B C8G
8 positive regulation of angiogenesis GO:0045766 9.46 C5 C6
9 complement activation, alternative pathway GO:0006957 9.1 C5 C7 C8A C8B C8G C9

Molecular functions related to Immunodeficiency Due to a Late Component of Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.8 C8A C8B C8G

Sources for Immunodeficiency Due to a Late Component of Complement...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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