Tracheal agenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 3346 |
| OMIM Id: |
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| ICD-10: |
Q32.1 |
| UMLs: |
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| MeSH: |
C536975 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic respiratory or mediastinal malformation
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Respiratory malformation -Rare respiratory disease Tracheal anomaly -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
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(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002777) | Tracheal stenosis | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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