ORPHA:169150
Immunodeficiency due to a late component of complement deficiency
Synonyms: Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to a late component of complement deficiency | Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency |
| fr | Déficit immunitaire par déficit des composés terminaux de la voie classique du complément | Immunodéficience par déficit d'un des composés C5 à C9 du complément |
| de | Immundefekt durch Komplementdefekt bei Störung einer späten Komponente | Immundefekt durch Komplementdefekt bei C5 bis C9 Störung · Komplementdefekt bei terminalen C-Defekt (C5 bis C9) · Störung des terminalen Komplementkomplex |
| es | Inmunodeficiencia por deficiencia de un componente tardío del complemento | Deficiencia en la vía terminal del complemento · Inmunodeficiencia por deficiencia de los componentes C5 a C9 del complemento |
| it | Immunodeficienza da deficit di una componente tardiva del complemento | Deficit della via terminale del complemento · Immunodeficienza da deficit dei componenti del complemento da C5 a C9 |
| nl | Immuundeficiëntie door deficiëntie van een late component van het complementsysteem | Deficiëntie van de terminale route van het complementsysteem · Immuundeficiëntie door deficiëntie van een C5- tot C9-component van het complementsysteem |
| pt | Deficiência dos componentes tardios do complemento (C5 to C9) | |
| pl | Niedobór odporności wskutek niedoboru składowej terminalnego szlaku dopełniacza | Niedobór odporności z powodu deficytu składników od C5 do C9 układu dopełniacza · Niedobór składników terminalnego szlaku układu dopełniacza |
| cs | Imunodeficience způsobená poruchou pozdní složky komplementu | Porucha koncové dráhy komplementu · Imunodeficience způsobená poruchou složek C5 až C9 komplementu |
| uk | Імунодефіцит через дефіцит пізнього компоненту комплементу | Імунодефіцит внаслідок дефіциту С5-С9 компонентів комплементу · Дефіцит термінального шляху комплементу |
| zh | 经典途径晚期补体缺乏所致免疫缺陷 | C5至C9补体缺乏所致免疫缺陷 |
| tr | Kompleman eksikliğinin geç bileşenine bağlı immün yetmezlik | Terminal kompleman yolak eksikliği · C5 ila C9 bileşen kompleman eksikliğine bağlı immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609536 | BTNT | validated | |
| OMIM | 610102 | BTNT | validated | |
| OMIM | 612446 | BTNT | validated | |
| OMIM | 613789 | BTNT | validated | |
| OMIM | 613790 | BTNT | validated | |
| OMIM | 613825 | BTNT | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.11 | E | specific | validated |
| MONDO | 0015700 | E | validated | |
| UMLS | C0398765 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C5 | Disease-causing germline mutation(s) in | Assessed | HGNC:1331 | ENSG00000106804 | 120900 | 9q33.2 | complement C5 | |
| C6 | Disease-causing germline mutation(s) in | Assessed | HGNC:1339 | ENSG00000039537 | 217050 | 5p13.1 | complement C6 | |
| C7 | Disease-causing germline mutation(s) in | Assessed | HGNC:1346 | ENSG00000112936 | 217070 | 5p13.1 | complement C7 | |
| C8A | Disease-causing germline mutation(s) in | Assessed | HGNC:1352 | ENSG00000157131 | 120950 | 1p32.2 | complement C8 alpha chain | |
| C8B | Disease-causing germline mutation(s) in | Assessed | HGNC:1353 | ENSG00000021852 | 120960 | 1p32.2 | complement C8 beta chain | |
| C8G | Disease-causing germline mutation(s) in | Assessed | HGNC:1354 | ENSG00000176919 | 120930 | 9q34.3 | complement C8 gamma chain | 22773339[PMID] |
| C9 | Disease-causing germline mutation(s) in | Assessed | HGNC:1358 | ENSG00000113600 | 120940 | 5p13.1 | complement C9 |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169150
- This record as JSON: /data/d/169150.json