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 59 6
Immunodeficiency Due to C5 to C9 Component Complement Deficiency 59
Terminal Complement Pathway Deficiency 59

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 34 D84.1
Orphanet 59 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 10.1 C7 C5
2 complement component 6 deficiency 10.0 LOC105374739 C6
3 monkeypox 10.0 C8A C6
4 neisseria meningitidis infection 9.9
5 complement component 5 deficiency 9.8 C9 C5
6 complement component 8 deficiency 9.8 C8B C8A
7 meningococcal meningitis 9.7 C7 C6

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...

Articles related to Immunodeficiency Due to a Late Component of Complement Deficiency:

# Title Authors PMID Year
1
Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies. 38
28368462 2017

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 GRCh37 Pos GRCh38 Pos
1 C6 NM_000065.4(C6): c.1879del (p.Asp627fs) deletion Pathogenic rs61469168 5:41158865-41158865 5:41158763-41158763
2 C5 NM_001735.2(C5): c.4336del (p.Val1446fs) deletion Likely pathogenic rs1554718962 9:123725233-123725233 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 C9 C8G C8B C8A C7 C6
2
Show member pathways
13.37 C9 C8G C8B C8A C7 C6
3
Show member pathways
12.03 C9 C8G C8B C8A C7 C6
4 11.94 C9 C8G C8B C8A C7 C6
5
Show member pathways
11.83 C9 C8G C8B C8A C7 C6
6 11.68 C9 C8G C8B C8A
7
Show member pathways
11.53 C9 C8G C8B C8A C7 C6
8 10.71 C9 C8G C8B C8A C7 C6

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 C9 C8G C8B C8A C5
2 extracellular region GO:0005576 9.7 C9 C8G C8B C8A C7 C6
3 extracellular exosome GO:0070062 9.5 C9 C8G C8B C8A C7 C6
4 blood microparticle GO:0072562 9.43 C9 C8G C8A
5 membrane attack complex GO:0005579 9.17 C9 C8G C8B C8A C7 C6

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 C9 C8G C8B C8A C7 C6
2 immune system process GO:0002376 9.83 C9 C8G C8A C6 C5
3 immune response GO:0006955 9.8 C9 C8B C8A C7 C6
4 complement activation, classical pathway GO:0006958 9.8 C9 C8G C8B C8A C7 C6
5 complement activation GO:0006956 9.77 C8B C8A C7 C6 C5
6 regulation of complement activation GO:0030449 9.7 C9 C8G C8B C8A C7 C6
7 complement activation, alternative pathway GO:0006957 9.43 C9 C8G C8B C8A C7 C5
8 cytolysis GO:0019835 9.17 C9 C8G C8B C8A C7 C6
9 positive regulation of angiogenesis GO:0045766 9.16 C6

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 C8G C8B C8A

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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