Mounier-Kühn syndrome
Synonyms: Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly · Tracheobronchomegaly
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mounier-Kühn syndrome | Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly · Tracheobronchomegaly |
| fr | Syndrome de Mounier-Kühn | Trachéobronchomégalie · Trachéobronchomégalie congénitale · Trachéobronchomégalie idiopathique |
| de | Mounier-Kühn-Syndrom | Tracheobronchomegalie · Tracheobronchomegalie, idiopathische · Tracheobronchomegalie, kongenitale |
| es | Síndrome de Mounier-Kühn | Traqueobroncomegalia · Traqueobroncomegalia congénita · Traqueobroncomegalia idiopática |
| it | Sindrome di Mounier-Kühn | Tracheobroncomegalia · Tracheobroncomegalia congenita · Tracheobroncomegalia idiopatica |
| nl | Syndroom van Mounier-Kühn | Congenitale tracheobronchomegalie · Idiopathische tracheobronchomegalie · Tracheobronchomegalie |
| pt | Síndrome Mounier-Kühn | Traqueo-broncomegalia · Traqueo-broncomegalia congénita · Traqueo-broncomegalia idiopática |
| pl | Zespół Mouniera i Kuhna | Tracheobronchomegalia · Tracheobronchomegalia idiopatyczna · Tracheobronchomegalia wrodzona |
| cs | Mounierův-Kühnův syndrom | Vrozená tracheobronchomegalie · Idiopatická tracheobronchomegalie · Tracheobronchomegalie · Mounier-Kühnův syndrom |
| uk | Синдром Муньє-Кюна | Вроджена трахеобронхомегалія · Ідіопатична трахеобронхомегалія · Трахеобронхомегалія |
| zh | Mounier-K³hn 综合征 | 特发性气管支气管肥大症 |
| tr | Mounier-Kühn sendromu | Trakeobronkomegali · Doğumsal trakeobronkomegali · İdiyopatik trakeobronkomegali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275300 | E | validated | |
| ICD-10 | Q32.1 | NTBT | attributed | validated |
| ICD-11 | CA27.1 | NTBT | index | validated |
| MONDO | 0010148 | E | validated | |
| MeSH | D014137 | E | validated | |
| UMLS | C0040587 | E | validated | |
| GARD | 3793 | E | validated | |
| MedDRA | 10044316 | 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:97955Rare respiratory disease
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT]_25130790[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25130790[PMID] |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0012387 | Bronchitis | |
| HP:0002090 | Pneumonia | |
| HP:0006538 | Recurrent bronchopulmonary infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002777 | Tracheal stenosis | |
| HP:0010776 | Tracheobronchmegaly | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3347
- This record as JSON: /data/d/3347.json