Congenital tracheomalacia
diseaseOn this page
Also known as congenital major airway collapsetracheomalacia, congenitaltype 1 tracheomalacia
Summary
Congenital tracheomalacia (MONDO:0019804) is a disease. A subtype of tracheal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Europe)
- Phenotypes (HPO): 45
Clinical features
Signs & symptoms
Clinical features (HPO)
45 HPO clinical features (Orphanet curated; top 45 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002779 | Tracheomalacia | Very frequent (80-99%) |
| HP:0004468 | Anomalous tracheal cartilage | Very frequent (80-99%) |
| HP:0001601 | Laryngomalacia | Frequent (30-79%) |
| HP:0002093 | Respiratory insufficiency | Frequent (30-79%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Frequent (30-79%) |
| HP:0010307 | Stridor | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0030828 | Wheezing | Frequent (30-79%) |
| HP:0032355 | Decreased peak expiratory flow | Frequent (30-79%) |
| HP:0000961 | Cyanosis | Occasional (5-29%) |
| HP:0000973 | Cutis laxa | Occasional (5-29%) |
| HP:0001508 | Failure to thrive | Occasional (5-29%) |
| HP:0001609 | Hoarse voice | Occasional (5-29%) |
| HP:0001622 | Premature birth | Occasional (5-29%) |
| HP:0001627 | Abnormal heart morphology | Occasional (5-29%) |
| HP:0001686 | Loss of voice | Occasional (5-29%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (5-29%) |
| HP:0002032 | Esophageal atresia | Occasional (5-29%) |
| HP:0002090 | Pneumonia | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002107 | Pneumothorax | Occasional (5-29%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (5-29%) |
| HP:0002643 | Neonatal respiratory distress | Occasional (5-29%) |
| HP:0011968 | Feeding difficulties | Occasional (5-29%) |
| HP:0012758 | Neurodevelopmental delay | Occasional (5-29%) |
| HP:0030864 | Intercostal retractions | Occasional (5-29%) |
| HP:0030966 | Abnormal pulmonary artery morphology | Occasional (5-29%) |
| HP:0031245 | Productive cough | Occasional (5-29%) |
| HP:0032177 | Parenchymal consolidation | Occasional (5-29%) |
| HP:0001629 | Ventricular septal defect | Very rare (<1-4%) |
| HP:0001631 | Atrial septal defect | Very rare (<1-4%) |
| HP:0001636 | Tetralogy of Fallot | Very rare (<1-4%) |
| HP:0001640 | Cardiomegaly | Very rare (<1-4%) |
| HP:0001643 | Patent ductus arteriosus | Very rare (<1-4%) |
| HP:0001750 | Single ventricle | Very rare (<1-4%) |
| HP:0002089 | Pulmonary hypoplasia | Very rare (<1-4%) |
| HP:0002092 | Pulmonary arterial hypertension | Very rare (<1-4%) |
| HP:0002097 | Emphysema | Very rare (<1-4%) |
| HP:0002104 | Apnea | Very rare (<1-4%) |
| HP:0002110 | Bronchiectasis | Very rare (<1-4%) |
| HP:0002780 | Bronchomalacia | Very rare (<1-4%) |
| HP:0002786 | Tracheobronchomalacia | Very rare (<1-4%) |
| HP:0010773 | Partial anomalous pulmonary venous return | Very rare (<1-4%) |
| HP:0011590 | Double aortic arch | Very rare (<1-4%) |
| HP:0012020 | Right aortic arch | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital tracheomalacia |
| Mondo ID | MONDO:0019804 |
| MeSH | D055090 |
| Orphanet | 95430 |
| DOID | DOID:0060313 |
| ICD-11 | 1616705280, 303133490 |
| NCIT | C98634 |
| SNOMED CT | 95467005 |
| UMLS | C0392109 |
| MedGen | 140261 |
| GARD | 0010515 |
| MedDRA | 10010654 |
| NORD | 2028 |
| Is cancer (heuristic) | no |
Also known as: congenital major airway collapse · Congenital Tracheomalacia · congenital tracheomalacia · tracheomalacia, congenital · type 1 tracheomalacia
Data availability: 1 HPO phenotype.
Disease family
This is a subtype of tracheal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › tracheal disorder › congenital tracheomalacia
Related subtypes (7): tracheal calcification, tracheal stenosis, chronic obstructive pulmonary disease, tracheitis, laryngotracheoesophageal cleft, isolated tracheo-esophageal fistula, trachea neoplasm
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.