C8D1
MCID: CMP093
MIFTS: 24

Complement Component 8 Deficiency, Type I (C8D1)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Complement Component 8 Deficiency, Type I

MalaCards integrated aliases for Complement Component 8 Deficiency, Type I:

Name: Complement Component 8 Deficiency, Type I 58 74
Complement Component 8 Deficiency Type 1 54 30 6
C8 Alpha-Gamma Deficiency 58 54 76
Complement Component 8 Deficiency Type I 54 76
C8 Deficiency, Type I 58 13
C8 Deficiency Type I 54 76
C8d1 58 76
Complement Component 8 Deficiency, Type 1 41
Type I Complement Component 8 Deficiency 12
Complement Component 8 Deficiency, 1 76
C8ag Deficiency 58
C81 Deficiency 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
complement component 8 deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060301
OMIM 58 613790
MeSH 45 D007154
ICD10 34 D84.1
MedGen 43 C3151081
SNOMED-CT via HPO 70 258211005 55464009 7180009
UMLS 74 C3151081

Summaries for Complement Component 8 Deficiency, Type I

OMIM : 58 Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (613789), in which only C8 beta (C8B; 120960) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984). (613790)

MalaCards based summary : Complement Component 8 Deficiency, Type I, is also known as complement component 8 deficiency type 1. An important gene associated with Complement Component 8 Deficiency, Type I is C8A (Complement C8 Alpha Chain). The drugs Trametinib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are meningitis and systemic lupus erythematosus

Disease Ontology : 12 A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has material basis in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.

UniProtKB/Swiss-Prot : 76 Complement component 8 deficiency, 1: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

Related Diseases for Complement Component 8 Deficiency, Type I

Symptoms & Phenotypes for Complement Component 8 Deficiency, Type I

Human phenotypes related to Complement Component 8 Deficiency, Type I:

33
# Description HPO Frequency HPO Source Accession
1 meningitis 33 HP:0001287
2 systemic lupus erythematosus 33 HP:0002725
3 c8 deficiency 33 HP:0004434

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
meningitis

Laboratory Abnormalities:
no c8 antigen detected

Immunology:
systemic lupus erythematosus
c8 deficiency
neisserial infections, recurrent

Clinical features from OMIM:

613790

Drugs & Therapeutics for Complement Component 8 Deficiency, Type I

Drugs for Complement Component 8 Deficiency, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 2 871700-17-3 11707110
2 Protein Kinase Inhibitors Phase 2,Phase 1
3
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
4
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
5
Pemetrexed Approved, Investigational Phase 1 150399-23-8, 137281-23-3 60843 446556
6
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
7
leucovorin Approved Phase 1 58-05-9 143 6006
8
Cisplatin Approved Phase 1 15663-27-1 2767 441203 84093
9
nivolumab Approved Phase 1 946414-94-4
10
Bevacizumab Approved, Investigational Phase 1 216974-75-3
11
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
12
Gemcitabine Approved Phase 1 95058-81-4 60750
13
Ipilimumab Approved Phase 1 477202-00-9
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
15 Antimetabolites, Antineoplastic Phase 1
16 Pharmaceutical Solutions Phase 1
17
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
18 Immunologic Factors Phase 1
19 Nucleic Acid Synthesis Inhibitors Phase 1
20 Antimitotic Agents Phase 1
21 Anti-Infective Agents Phase 1
22 Antineoplastic Agents, Immunological Phase 1
23 Angiogenesis Inhibitors Phase 1
24 Vitamin B Complex Phase 1
25 Vitamin B9 Phase 1
26 Antiviral Agents Phase 1
27 Albumin-Bound Paclitaxel Phase 1
28 Angiogenesis Modulating Agents Phase 1
29 Folic Acid Antagonists Phase 1
30 Immunosuppressive Agents Phase 1
31 Folate Phase 1
32 Antineoplastic Agents, Phytogenic Phase 1
33 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-label Study to Evaluate the Safety, PK, and PD of MEK Inhibitor GSK1120212 in Subjects With Relapsed or Refractory Leukemias Completed NCT00920140 Phase 2 GSK1120212;GSK1120212
2 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
3 Study of Nivolumab (BMS-936558) in Combination With Gemcitabine/Cisplatin, Pemetrexed/Cisplatin, Carboplatin/Paclitaxel, Bevacizumab Maintenance, Erlotinib, Ipilimumab or as Monotherapy in Subjects With Stage IIIB/IV Non-small Cell Lung Cancer (NSCLC) (CheckMate 012) Active, not recruiting NCT01454102 Phase 1 Gemcitabine;Cisplatin;Pemetrexed;Paclitaxel;Carboplatin;Bevacizumab;Erlotinib

Search NIH Clinical Center for Complement Component 8 Deficiency, Type I

Genetic Tests for Complement Component 8 Deficiency, Type I

Genetic tests related to Complement Component 8 Deficiency, Type I:

# Genetic test Affiliating Genes
1 Complement Component 8 Deficiency Type 1 30 C8A

Anatomical Context for Complement Component 8 Deficiency, Type I

MalaCards organs/tissues related to Complement Component 8 Deficiency, Type I:

42
Lung

Publications for Complement Component 8 Deficiency, Type I

Articles related to Complement Component 8 Deficiency, Type I:

# Title Authors Year
1
Genetic basis of human complement C8 alpha-gamma deficiency. ( 9759902 )
1998

Variations for Complement Component 8 Deficiency, Type I

ClinVar genetic disease variations for Complement Component 8 Deficiency, Type I:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C8A C8A, IVS2, G-T, +1 single nucleotide variant Pathogenic
2 C8A C8A, ARG394TER undetermined variant Pathogenic
3 C8A NM_000562.2(C8A): c.1589A> T (p.Gln530Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 57378284: 57378284
4 C8A NM_000562.2(C8A): c.1589A> T (p.Gln530Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 56912611: 56912611

Expression for Complement Component 8 Deficiency, Type I

Search GEO for disease gene expression data for Complement Component 8 Deficiency, Type I.

Pathways for Complement Component 8 Deficiency, Type I

GO Terms for Complement Component 8 Deficiency, Type I

Sources for Complement Component 8 Deficiency, Type I

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
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....