Recurrent Neisseria infections due to factor D deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recurrent Neisseria infections due to factor D deficiency | |
| fr | Infections récurrentes à Neisseria par déficit en facteur D | |
| de | Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel | |
| es | Infecciones recurrentes de Neisseria por deficiencia de factor D | |
| it | Infezioni ricorrenti di Neisseria da deficit del fattore D | |
| nl | Recurrente Neisseria-infecties door factor D-deficiëntie | |
| pt | Infeções recorrentes por Neisseria por deficiência de fator D | |
| pl | Nawracające zakażenia Neisserią z powodu niedoboru czynnika D | |
| cs | Rekurentní Neisseriové infekce způsobené deficitem faktoru D | |
| uk | Рецидивуючі інфекції Neisseria через дефіцит фактора D | |
| zh | D因子缺乏所致复发性奈瑟菌感染 | |
| tr | Faktör D eksikliğine bağlı tekrarlayan Neisseria enfeksiyonları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613912 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0013487 | E | validated | |
| UMLS | C5190780 | 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:459348Immunodeficiency due to a complement regulatory deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFD | Disease-causing germline mutation(s) in | Assessed | HGNC:2771 | ENSG00000197766 | 134350 | 19p13.3 | complement factor D | 16527897[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169467
- This record as JSON: /data/d/169467.json