Complement component 3 deficiency
Synonyms: C3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complement component 3 deficiency | C3 deficiency |
| fr | Déficit en facteur C3 du complément | Déficit en C3 |
| de | Komplement-Komponente 3-Mangel | C3-Mangel |
| es | Deficiencia del componente 3 del complemento | Deficiencia de C3 |
| it | Deficit della componente 3 del complemento | Deficit di C3 |
| nl | Complementcomponent 3-deficiëntie | C3-deficiëntie |
| pt | Deficiência de componente 3 do complemento | Deficiência C3 |
| pl | Niedobór C3 składnika układu dopełniacza | Niedobór C3 |
| cs | Deficit komponenty 3 komplementu | Deficit C3 |
| uk | Дефіцит компонента 3 комплементу | Дефіцит С3 |
| zh | 补体C3缺乏症 | C3缺乏症 |
| tr | Kompleman bileşeni 3 eksikliği | C3 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613779 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0013417 | E | validated | |
| UMLS | C1332655 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:459345Immunodeficiency due to a complement cascade component deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1318 | ENSG00000125730 | 120700 | 19p13.3 | complement C3 | 15781264[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 21664996[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21664996[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280133
- This record as JSON: /data/d/280133.json