MCID: IMM128
MIFTS: 18

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 58 6
Immunodeficiency Due to C5 to C9 Component Complement Deficiency 58
Terminal Complement Pathway Deficiency 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D84.1
Orphanet 58 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 neisseria meningitidis infection 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 neisseria meningitidis infection 9.9
2 complement component 6 deficiency 9.7 C8B C6
3 meningococcal meningitis 9.6 C7 C6
4 complement component 8 deficiency 9.6 C8B C8A
5 complement deficiency 9.6 C7 C6 C5

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. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C6 NM_000065.4(C6):c.1879del (p.Asp627fs)deletion Pathogenic 505659 rs61469168 5:41158865-41158865 5:41158763-41158763

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 11.96 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
11.19 C9 C8G C8B C8A C7 C6
8 11.04 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 complement activation, alternative pathway GO:0006957 9.63 C9 C8G C8B C8A C7 C5
7 regulation of complement activation GO:0030449 9.5 C9 C8G C8B C8A C7 C6
8 positive regulation of angiogenesis GO:0045766 9.46 C6 C5
9 cytolysis GO:0019835 9.17 C9 C8G C8B C8A C7 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 9.13 C8G C8B C8A
2 complement binding GO:0001848 8.62 C8G 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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