Pulmonary arteriovenous fistula
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Pulmonar arteriovenous aneurysm |
| Number of Symptoms | 5 |
| OrphanetNr: | 2038 |
| OMIM Id: |
265140
|
| ICD-10: |
Q25.7 |
| UMLs: |
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| MeSH: |
|
| MedDRA: |
10037332 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous fistula
-Rare circulatory system disease -Rare developmental defect during embryogenesis Nonsyndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease |
Symptom Information:
|
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(HPO:0100760) | Clubbing of toes | 24 / 7739 | ||||
|
|
(HPO:0001217) | Clubbing | 39 / 7739 | ||||
|
|
(HPO:0100759) | Clubbing of fingers | 40 / 7739 | ||||
|
|
(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
|
|
(HPO:0004952) | Pulmonary arteriovenous fistulas | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Pulmonary arteriovenous fistulas are a rare isolated finding and are usually not familial. They are typically associated with hereditary hemorrhagic telangiectasia (HHT; see 187300). In HHT, the fistulas are congenital in only a small proportion of cases; the ... |