C8D1
MCID: CMP093
MIFTS: 28

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 70
Type I Complement Component 8 Deficiency 12 29 6
C8 Alpha-Gamma Deficiency 57 20 72
Complement Component 8 Deficiency Type I 20 72
C8 Deficiency, Type I 57 13
C8 Deficiency Type I 20 72
C8d1 57 72
Complement Component 8 Deficiency, Type 1 39
Complement Component 8 Deficiency Type 1 20
Complement Component 8 Deficiency, 1 72
C8ag Deficiency 57
C81 Deficiency 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
complement component 8 deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060301
OMIM® 57 613790
MeSH 44 D007154
ICD10 32 D84.1
MedGen 41 C3151081
SNOMED-CT via HPO 68 258211005 55464009 7180009
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Complement Component 8 Deficiency, Type I, also known as type i complement component 8 deficiency, is related to complement component 8 deficiency, type ii and complement component 8 deficiency. An important gene associated with Complement Component 8 Deficiency, Type I is C8A (Complement C8 Alpha Chain). The drugs Prednisone and Bicalutamide have been mentioned in the context of this disorder. Affiliated tissues include prostate, 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 : 72 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

Diseases related to Complement Component 8 Deficiency, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 complement component 8 deficiency, type ii 10.1
2 complement component 8 deficiency 10.1

Symptoms & Phenotypes for Complement Component 8 Deficiency, Type I

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

31
# Description HPO Frequency HPO Source Accession
1 meningitis 31 HP:0001287
2 systemic lupus erythematosus 31 HP:0002725
3 decreased serum complement c8 31 HP:0004434

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Bicalutamide Approved Phase 3 90357-06-5 56069 2375
3
Leuprolide Approved, Investigational Phase 3 53714-56-0 3911 657181
4
Abiraterone acetate Phase 3 154229-18-2 57336518
5 Hormones Phase 3
6 Hormone Antagonists Phase 3
7 glucocorticoids Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Antineoplastic Agents, Hormonal Phase 3
10 Androgens Phase 3
11 Cytochrome P-450 Enzyme Inhibitors Phase 3
12 Androgen Antagonists Phase 3
13
Etoposide Approved Phase 2 33419-42-0 36462
14
Durvalumab Approved, Investigational Phase 2 1428935-60-7
15
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
16 Antineoplastic Agents, Immunological Phase 2
17 Etoposide phosphate Phase 2
18 Vaccines Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study of Androgen Annihilation in High-Risk Biochemically Relapsed Prostate Cancer Recruiting NCT03009981 Phase 3 Apalutamide;LHRH Analogue;Abiraterone Acetate;Prednisone
2 Phase II Study of a Personalized Neoantigen Vaccine in Combination With Durvalumab (MEDI4736) in Extensive Stage Small Cell Lung Cancer Not yet recruiting NCT04397003 Phase 2 Durvalumab

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 Type I Complement Component 8 Deficiency 29 C8A

Anatomical Context for Complement Component 8 Deficiency, Type I

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

40
Prostate

Publications for Complement Component 8 Deficiency, Type I

Articles related to Complement Component 8 Deficiency, Type I:

(show all 15)
# Title Authors PMID Year
1
Genetic basis of human complement C8 alpha-gamma deficiency. 6 61 57
9759902 1998
2
Two distinct abnormalities in patients with C8 alpha-gamma deficiency. Low level of C8 beta chain and presence of dysfunctional C8 alpha-gamma subunit. 57 61
2394837 1990
3
Terminal complement component deficiencies in Japan. 57
10072634 1998
4
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. 57
6433145 1984
5
Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man. Reconstitution of normal C8 from the mixture of two abnormal C8 molecules. 57
6822660 1983
6
Identification of the alpha-gamma subunit of the eighth component of complement (C8) in a patient with systemic lupus erythematosus and absent C8 activity: patients and family studies. 57
7105499 1982
7
Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement. 57
6771072 1980
8
Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease. 57
893674 1977
9
Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity. 57
815273 1976
10
A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 61
19434484 2009
11
Genetic deficiency of complement component C8 in the rabbit: evidence of a translational defect in expression of the alpha-gamma subunit. 61
1772398 1991
12
Hereditary C3 hypocomplementemia in the rabbit. 61
3410489 1988
13
Immunoblot analysis of the eighth component of human complement. Demonstration of subunits and detection of C8 alpha-gamma double and triple bands. 61
3361137 1988
14
Genetic deficiency of the alpha-gamma-subunit of the eighth complement component in the rabbit. 61
3973389 1985
15
[A method for developing hereditary deficiency of complement component in the rabbit]. 61
4018150 1985

Variations for Complement Component 8 Deficiency, Type I

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C8A NM_000562.3(C8A):c.855+1G>C SNV Pathogenic 1028844 GRCh37: 1:57349355-57349355
GRCh38: 1:56883682-56883682
2 C8A NM_000562.3(C8A):c.903_906del (p.Phe301fs) Deletion Pathogenic 1028845 GRCh37: 1:57351647-57351650
GRCh38: 1:56885974-56885977
3 C8A NM_000562.3(C8A):c.1108A>T (p.Arg370Ter) SNV Pathogenic 1034269 GRCh37: 1:57372351-57372351
GRCh38: 1:56906678-56906678
4 C8A NM_000562.3(C8A):c.175C>T (p.Arg59Ter) SNV Pathogenic 1034270 GRCh37: 1:57340625-57340625
GRCh38: 1:56874952-56874952
5 C8A NM_000562.3(C8A):c.630C>A (p.Tyr210Ter) SNV Pathogenic 1028843 GRCh37: 1:57347283-57347283
GRCh38: 1:56881610-56881610
6 C8A C8A, IVS2, G-T, +1 SNV Pathogenic 29660 GRCh37:
GRCh38:
7 C8A C8A, ARG394TER Variation Pathogenic 29661 GRCh37:
GRCh38:
8 C8A NM_000562.2(C8A):c.1589A>T (p.Gln530Leu) SNV Uncertain significance 626068 rs182161894 GRCh37: 1:57378284-57378284
GRCh38: 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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