MCID: IMM128
MIFTS: 20

Immunodeficiency Due to a Late Component of Complement Deficiency

Categories: Blood diseases, Rare diseases, Immune 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:

Orphanet 59 ORPHA169150
ICD10 via Orphanet 34 D84.1

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 meningococcal meningitis. 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 9.8
2 meningococcal meningitis 9.8 C6 C7
3 complement component 8 deficiency 9.7 C8A C8B
4 complement component 5 deficiency 9.4 C5 C9
5 complement deficiency 9.0 C5 C7

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 Year
1
Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies. ( 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 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 GRCh37 Chromosome 9, 123725233: 123725233
4 C5 NM_001735.2(C5): c.4336delG (p.Val1446Trpfs) deletion Likely pathogenic 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 exosome GO:0070062 9.7 C5 C6 C7 C8A C8B C8G
3 extracellular region GO:0005576 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 cytolysis GO:0019835 9.7 C5 C6 C7 C8A C8B C8G
7 regulation of complement activation GO:0030449 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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