ORPHA:447740
Aggressive periodontitis
Synonyms: AgP · Juvenile periodontitis · Susceptibility to localized juvenile periodontitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aggressive periodontitis | AgP · Juvenile periodontitis · Susceptibility to localized juvenile periodontitis |
| fr | Parodontite agressive | AgP · Parodontite juvénile · Susceptibilité à la périodontite juvénile localisée |
| de | Aggressive Parodontitis | AgP · Juvenile Parodontitis · Suszeptibilität für lokalisierte juvenile Parodontitis |
| es | Periodontitis agresiva | Periodontitis juvenil · Susceptibilidad a la periodontitis juvenil localizada |
| it | Parodontite aggressiva | AgP · Periodontite giovanile · Suscettibilità alla periodontite giovanile localizzata |
| nl | Agressieve parodontitis | AgP · Gevoeligheid voor gelokaliseerde juveniele parodontitis · Juveniele parodontitis |
| pt | Susceptibilidade à periodontite juvenil localizada | |
| pl | Agresywne zapalenie przyzębia | = en |
| cs | Zvýšená náchylnost k lokalizované juvenilní periodontitidě | = en |
| uk | Схильність до локалізованого ювенільного пародонтиту | |
| zh | 局部青少年型牙周炎易感 | |
| tr | Lokalize jüvenil periodontite duyarlılık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 170650 | BTNT | validated | |
| OMIM | 608526 | BTNT | validated | |
| ICD-10 | D71 | NTBT | attributed | validated |
| MONDO | 0018643 | E | validated | |
| UMLS | C5681199 | 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:674648Syndrome with congenital phagocyte functional defect as a major feature
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FPR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3826 | ENSG00000171051 | 136537 | 19q13.41 | formyl peptide receptor 1 | 19722801[PMID] |
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/447740
- This record as JSON: /data/d/447740.json