ORPHA:210122
Congenital alveolar capillary dysplasia
Synonyms: ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins · Alveolar capillary dysplasia with misalignment of pulmonary vessels
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital alveolar capillary dysplasia | ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins · Alveolar capillary dysplasia with misalignment of pulmonary vessels |
| fr | Dysplasie alvéolo-capillaire congénitale | ACDMPV · Dysplasie alvéolo-capillaire avec défaut d'alignement des vaisseaux pulmonaires |
| de | Dysplasie, alveolar-kapilläre, kongenitale | ACDMPV · Alveoläre kapilläre Dysplasie mit Fehlausrichtung der pulmonalen Gefäße · Alveoläre kapilläre Dysplasie mit Misalignment der Lungenvenen |
| es | Displasia capilar alveolar congénita | ACDMPV · Displasia alveolo-capilar con mal alineamiento de las vasos pulmonares · Displasia alveolo-capilar con mal alineamiento de las venas pulmonares |
| it | Displasia alveolo-capillare congenita | ACDMPV · Displasia alveolo-capillare con difetto di allineamento dei vasi polmonari · Displasia alveolo-capillare con difetto di allineamento delle vene polmonari |
| nl | Congenitale alveolaire capillaire dysplasie | ACDMPV · Alveolaire capillaire dysplasie met verkeerde uitlijning van de longaders · Alveolaire capillaire dysplasie met verkeerde uitlijning van de longvaten |
| pt | Displasia congénita dos capilares alveolares | |
| pl | Wrodzona dysplazja naczyń pęcherzyków płucnych | ACDMPV · Dysplazja naczyniowa pęcherzyków płucnych z przesunięciem naczyń płucnych · Dysplazja naczyniowa pęcherzyków płucnych z przesunięciem żył płucnych |
| cs | Vrozená alveolární kapilární dysplázie | ACDMPV · Alveolární kapilární dysplázie s vychýlením plicních žil · Alveolární kapilární dysplázie s vychýlením plicních cév · Alveolární kapilární dysplázie - familiární výskyt |
| uk | Вроджена альвеолярно-капілярна дисплазія | ACDMPV · Альвеолярно-капілярна дисплазія з викривленням легеневих вен · Альвеолярно-капілярна дисплазія з викривленням легеневих судин |
| zh | 先天性肺泡毛细血管发育不良 | 肺泡毛细血管发育不良伴肺血管错位 |
| tr | Doğumsal alveolar kapiller displazi | ACDMPV · Pulmoner venlerin yanlış hizalanması ile seyreden alveolar kapiller displazi · Pulmoner damarların yanlış hizalanması ile seyreden alveolar kılcal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265380 | E | validated | |
| ICD-10 | Q33.6 | NTBT | attributed | validated |
| ICD-11 | CB04.0 | NTBT | index | validated |
| MONDO | 0009934 | E | validated | |
| MeSH | C536590 | E | validated | |
| UMLS | C2677362 | E | validated | |
| GARD | 8644 | E | validated | |
| MedDRA | 10077023 | 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 (2):
- ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:264683Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
rare respiratory diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3809 | ENSG00000103241 | 601089 | 16q24.1 | forkhead box F1 | 19500772[PMID]_23505205[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Canada | Value and class | Validated | 10735455[PMID]_9369882[PMID] |
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 10735455[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002098 | Respiratory distress | |
| Frequent (79-30%) | ||
| HP:0004383 | Hypoplastic left heart | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001643 | Patent ductus arteriosus | |
| Occasional (29-5%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0011467 | Absent gallbladder | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002023 | Anal atresia | |
| HP:0001734 | Annular pancreas | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001746 | Asplenia | |
| HP:0001631 | Atrial septal defect | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0100867 | Duodenal stenosis | |
| HP:0000126 | Hydronephrosis | |
| HP:0010882 | Pulmonary valve atresia | |
| HP:0001195 | Single umbilical artery | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002580 | Volvulus | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210122
- This record as JSON: /data/d/210122.json