Diffuse panbronchiolitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse panbronchiolitis | |
| fr | Panbronchiolite diffuse | |
| de | Panbronchiolitis, diffuse | |
| es | Panbronquiliolitis difusa | |
| it | Panbronchiolite diffusa | |
| nl | Diffuse panbronchiolitis | |
| pt | Panbronquiolite difusa | |
| pl | Rozlane zapalenie oskrzelików | |
| cs | Difuzní panbronchiolitida | |
| uk | Дифузний панбронхіоліт | |
| zh | 弥漫性全细支气管炎 | |
| tr | Yaygın panbronşiolit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604809 | E | validated | |
| ICD-10 | J44.8 | NTBT | attributed | validated |
| ICD-11 | CA26.1 | E | specific | validated |
| MONDO | 0011490 | E | validated | |
| MeSH | C536174 | E | validated | |
| UMLS | C0878555 | E | validated | |
| GARD | 8526 | E | validated | |
| MedDRA | 10062952 | 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:101944Rare pulmonary disease
rare respiratory diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MUC5B | Major susceptibility factor in | Not yet assessed | HGNC:7516 | ENSG00000117983 | 600770 | 11p15.5 | mucin 5B, oligomeric mucus/gel-forming | |
| MUCL3 | Major susceptibility factor in | Not yet assessed | HGNC:21666 | ENSG00000168631 | 613928 | 6p21.33 | mucin like 3 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171700
- This record as JSON: /data/d/171700.json