ORPHA:2038
Pulmonary arteriovenous malformation
Synonyms: PAVM
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Unknown
- Age of onset
- Infancy
- Status
- active
An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary arteriovenous malformation | PAVM |
| fr | Malformation artérioveineuse pulmonaire | = en |
| de | Fehlbildung, arteriovenöse pulmonale | PAVM · Pulmonale arteriovenöse Malformationen |
| es | Malformación arteriovenosa pulmonar | = en |
| it | Malformazione arterovenosa polmonare | = en |
| nl | Pulmonale arterioveneuze malformatie | = en |
| pt | Malformação arterio-venosa pulmonar | |
| pl | Płucna przetoka tętniczo-żylna | Płucny tętniak tętniczo-żylny |
| cs | Vrozená pulmonální arteriovenózní píštěl | Plicní arteriovenózní aneuryzma |
| uk | Легенева артеріовенозна мальформація | = en |
| zh | 肺动静脉畸形 | = en |
| tr | Pulmoner arteriyovenöz malformasyon | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265140 | E | validated | |
| ICD-10 | Q25.7 | NTBT | index | validated |
| ICD-11 | LA90.5 | E | specific | validated |
| MONDO | 0009930 | E | validated | |
| UMLS | C0155675 | E | validated | |
| GARD | 4584 | E | validated | |
| MedDRA | 10037332 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:693855Visceral fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Not yet validated | 24008954[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2019-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004952 | Pulmonary arteriovenous fistulas | |
| HP:0001009 | Telangiectasia | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0002094 | Dyspnea | |
| HP:0012151 | Hemothorax | |
| HP:0012418 | Hypoxemia | |
| HP:0002140 | Ischemic stroke | |
| HP:0002326 | Transient ischemic attack | |
| Occasional (29-5%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0030049 | Brain abscess | |
| HP:0001217 | Clubbing | |
| HP:0012735 | Cough | |
| HP:0000961 | Cyanosis | |
| HP:0000421 | Epistaxis | |
| HP:0030148 | Heart murmur | |
| HP:0002105 | Hemoptysis | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0002076 | Migraine | |
| HP:0001658 | Myocardial infarction | |
| HP:0001962 | Palpitations | |
| HP:0011919 | Pleural empyema | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0040223 | Pulmonary hemorrhage | |
| Very rare (<4-1%) | ||
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0100523 | Liver abscess | |
| HP:0002722 | Recurrent abscess formation | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30386957[PMID]_31241656[PMID]_31326738[PMID]_31523570[PMID]_30386957[PMID]_3189185[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2038
- This record as JSON: /data/d/2038.json