ORPHA:2966
Properdin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Properdin deficiency | |
| fr | Déficit en properdine | |
| de | Properdin-Mangel | |
| es | Deficiencia de properdina | |
| it | Deficit di properdina | |
| nl | Properdinedeficiëntie | |
| pt | Deficiência de properdina | |
| pl | Niedobór properdyny | |
| cs | Deficit properdinu | |
| uk | Дефіцит пропердину | |
| zh | 备解素缺陷症 | |
| tr | Properdin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312060 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0010713 | E | validated | |
| MeSH | C537241 | E | validated | |
| UMLS | C0398762 | E | validated | |
| GARD | 4513 | 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:459348Immunodeficiency due to a complement regulatory deficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFP | Disease-causing germline mutation(s) in | Assessed | HGNC:8864 | ENSG00000126759 | 300383 | Xp11.23 | complement factor properdin | 8871668[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/2966
- This record as JSON: /data/d/2966.json