Congenital lobar emphysema
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CLE |
| Number of Symptoms | 9 |
| OrphanetNr: | 1928 |
| OMIM Id: |
130710
|
| ICD-10: |
Q33.8 |
| UMLs: |
|
| MeSH: |
C535735 |
| MedDRA: |
|
| Snomed: |
66987001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy Childhood Adult All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic respiratory malformation
-Rare genetic disease Nonsyndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Respiratory malformation -Rare respiratory disease |
Symptom Information:
|
|
(HPO:0002097) | Emphysema | Very frequent [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0002098) | Respiratory distress | 75 / 7739 | ||||
|
|
(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0006539) | Bronchial cartilage hypoplasia | 1 / 7739 | ||||
|
|
(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
|
|
(OMIM) | Compressed normal lung tissue | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Hyperinflated lobe of lung | 1 / 7739 | ||||
|
|
(OMIM) | Respiratory distress in infancy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|