ORPHA:2414
Congenital pulmonary lymphangiectasia
Synonyms: Pulmonary lymphangiomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pulmonary lymphangiectasia | Pulmonary lymphangiomatosis |
| fr | Lymphangiectasie pulmonaire congénitale | Lymphangiomatose pulmonaire |
| de | Lymphangiektasie, pulmonale, kongenitale | Lymphangiomatose, pulmonale |
| es | Linfangiectasias quísticas pulmonares | Linfangiomatosis pulmonar |
| it | Linfangectasia polmonare | Linfangectasie polmonari cistiche · Linfangiomatosi polmonare |
| nl | Congenitale pulmonale lymfangiëctasie | Pulmonale lymfangiomatose |
| pt | Linfangiectasia pulmonar congénita | Linfangiectasia quística pulmonar · Linfangiomatose pulmonar |
| pl | Wrodzona limfangiektazja płuc | Limfangiomatoza płucna |
| cs | Vrozená plicní lymfangiektázie | Plicní lymfangiomatóza |
| uk | Вроджена легенева лімфангіектазія | Лімфангіоматоз легень |
| zh | 先天性肺淋巴管扩张症 | 肺淋巴管瘤病 |
| tr | Doğumsal pulmoner lenfanjiektazi | Pulmoner lenfanjiyomatoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265300 | E | validated | |
| ICD-10 | Q33.8 | NTBT | attributed | validated |
| ICD-11 | LA75.Y | NTBT | index | validated |
| MONDO | 0009933 | E | validated | |
| MeSH | C537727 | E | validated | |
| UMLS | C1849554 | E | validated | |
| GARD | 9900 | 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:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:264683Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
rare respiratory diseases; rare transplant-related disorders - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
4
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 |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ISBN:019974808X[OTHER] | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000961 | Cyanosis | |
| HP:0002202 | Pleural effusion | |
| HP:0002098 | Respiratory distress | |
| Frequent (79-30%) | ||
| HP:0001541 | Ascites | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0011852 | Chylopericardium | |
| HP:0001635 | Congestive heart failure | |
| HP:0012735 | Cough | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0001789 | Hydrops fetalis | |
| Occasional (29-5%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001744 | Splenomegaly | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2414
- This record as JSON: /data/d/2414.json