ORPHA:169147
Immunodeficiency due to a classical component pathway complement deficiency
Synonyms: Immunodeficiency due to C1, C4, or C2 component complement deficiency · Immunodeficiency due to an early component of complement deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to a classical component pathway complement deficiency | Immunodeficiency due to C1, C4, or C2 component complement deficiency · Immunodeficiency due to an early component of complement deficiency |
| fr | Immunodéficence due à un déficit des composés classiques de la voie classique du complément | Immunodéficence due à un déficit de C1, C2 ou C4 · Immunodéficence due à un déficit des composés précoces de la voie classique du complément |
| de | Immundefekt durch klassischen Komponentenmangel des Komplementsystems | Immundefekt durch Komplementdefekt bei Störung einer frühen Komponente · Komplementdefekt bei Mangel der frühen Komponenten C1, C4 oder C2 |
| es | Inmunodeficiencia por deficiencia de un componente de la vía clásica del complemento | Inmunodeficiencia por deficiencia de componentes precoces del complemento · Inmunodeficiencia por deficiencia de los componentes C1, C4 o C2 del complemento |
| it | Immunodeficienza da deficit di una componente della via classica del complemento | Immunodeficienza da deficit dei componenti del complemento C1, C4 o C2 |
| nl | Immuundeficiëntie door deficiëntie van een component van de klassieke route van het complementsysteem | Immuundeficiëntie door deficiëntie van de C1-, C4- of C2-component van het complementsysteem · Immuundeficiëntie door deficiëntie van een vroege component van het complementsysteem |
| pt | Imunodeficiência por deficiência de componente da via clássica do complemento | |
| pl | Niedobór odporności z powodu deficytu wczesnych składników układu dopełniacza | Niedobór odporności z powodu deficytu składników C1, C4, lub C2 układu dopełniacza |
| cs | Imunodeficience způsobená poruchou složky klasické dráhy komplementu | Imunodeficience způsobená poruchou složek C1, C4 nebo C2 komplementu · Imunodeficience způsobená poruchou časné složky komplementu |
| uk | Імунодефіцит, зумовлений дефіцитом класичного компонента шляху комплементу | Імунодефіцит через ранній компонент дефіциту комплементу · Імунодефіцит внаслідок дефіциту С1, С4 або С2 компонентів комплементу |
| zh | 经典途径补体缺乏所致免疫缺陷 | C1,C4或C2补体缺乏所致免疫缺陷 |
| tr | Klasik bileşen yolu tamamlayıcı eksikliğine bağlı immün yetmezlik | Kompleman eksikliğinin erken bir bileşenine bağlı immün yetmezlik · C1, C4 veya C2 bileşen kompleman eksikliğine bağlı immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216950 | BTNT | validated | |
| OMIM | 217000 | BTNT | validated | |
| OMIM | 613652 | BTNT | validated | |
| OMIM | 613783 | BTNT | validated | |
| OMIM | 614379 | BTNT | validated | |
| OMIM | 614380 | BTNT | validated | |
| OMIM | 620321 | BTNT | validated | |
| OMIM | 620322 | BTNT | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.10 | E | specific | validated |
| MONDO | 0015699 | E | validated | |
| UMLS | C0398750 | E | validated | |
| GARD | 1452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C1QA | Disease-causing germline mutation(s) in | Assessed | HGNC:1241 | ENSG00000173372 | 120550 | 1p36.12 | complement C1q A chain | |
| C1QB | Disease-causing germline mutation(s) in | Assessed | HGNC:1242 | ENSG00000173369 | 120570 | 1p36.12 | complement C1q B chain | |
| C1QC | Disease-causing germline mutation(s) in | Assessed | HGNC:1245 | ENSG00000159189 | 120575 | 1p36.12 | complement C1q C chain | |
| C1R | Disease-causing germline mutation(s) in | Assessed | HGNC:1246 | ENSG00000159403 | 613785 | 12p13.31 | complement C1r | 22773339[PMID] |
| C1S | Disease-causing germline mutation(s) in | Assessed | HGNC:1247 | ENSG00000182326 | 120580 | 12p13.31 | complement C1s | |
| C2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1248 | ENSG00000166278 | 613927 | 6p21.33 | complement C2 | |
| C4A | Disease-causing germline mutation(s) in | Assessed | HGNC:1323 | ENSG00000244731 | 120810 | 6p21.33 | complement C4A (Chido/Rodgers blood group) | |
| C4B | Disease-causing germline mutation(s) in | Assessed | HGNC:1324 | ENSG00000224389 | 120820 | 6p21.33 | complement C4B (Chido/Rodgers blood group) |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169147
- This record as JSON: /data/d/169147.json