C8D1
MCID: CMP093
MIFTS: 18

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 57 73
Complement Component 8 Deficiency Type 1 53 29 6
C8 Alpha-Gamma Deficiency 57 53 75
Complement Component 8 Deficiency Type I 53 75
C8 Deficiency, Type I 57 13
C8 Deficiency Type I 53 75
C8d1 57 75
Complement Component 8 Deficiency, Type 1 40
Type I Complement Component 8 Deficiency 12
Complement Component 8 Deficiency, 1 75
C8ag Deficiency 57
C81 Deficiency 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
complement component 8 deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613790
Disease Ontology 12 DOID:0060301
ICD10 33 D84.1
MedGen 42 C3151081
MeSH 44 D007154
SNOMED-CT via HPO 69 258211005 7180009 55464009
UMLS 73 C3151081

Summaries for Complement Component 8 Deficiency, Type I

OMIM : 57 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. Related phenotypes are meningitis and systemic lupus erythematosus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 meningitis 32 HP:0001287
2 systemic lupus erythematosus 32 HP:0002725
3 c8 deficiency 32 HP:0004434

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 34)
# 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 6442177
4
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
5
Bevacizumab Approved, Investigational Phase 1 216974-75-3
6
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
7
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
8
Pemetrexed Approved, Investigational Phase 1 150399-23-8, 137281-23-3 446556 60843
9
leucovorin Approved Phase 1 58-05-9 6006 143
10
Gemcitabine Approved Phase 1 95058-81-4 60750
11
Cisplatin Approved Phase 1 15663-27-1 2767 441203 84093
12
Nivolumab Approved Phase 1 946414-94-4
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
14 Immunologic Factors Phase 1
15 Immunoglobulins Phase 1
16 Folic Acid Antagonists Phase 1
17 Nucleic Acid Synthesis Inhibitors Phase 1
18 Antimetabolites, Antineoplastic Phase 1
19 Vitamin B Complex Phase 1
20 Antiviral Agents Phase 1
21 Antibodies, Monoclonal Phase 1
22 Antineoplastic Agents, Phytogenic Phase 1
23 Immunosuppressive Agents Phase 1
24
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
25 Angiogenesis Modulating Agents Phase 1
26 Antimitotic Agents Phase 1
27 Albumin-Bound Paclitaxel Phase 1
28 Angiogenesis Inhibitors Phase 1
29 Pharmaceutical Solutions Phase 1
30 Antimetabolites Phase 1
31 Folate Phase 1
32 Antibodies Phase 1
33 Anti-Infective Agents Phase 1
34 Vitamin B9 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 29 C8A

Anatomical Context for Complement Component 8 Deficiency, Type I

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

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 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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