ORPHA:576235
Partial atrioventricular septal defect without ventricular hypoplasia
Synonyms: Balanced partial atrioventricular canal · PAVC without ventricular hypoplasia · Partial AVSD without ventricular hypoplasia · Partial atrioventricular canal defect without ventricular hypoplasia · Partial atrioventricular septal defect with balanced ventricles
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
This disease is described under Partial atrioventricular septal defect
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial atrioventricular septal defect without ventricular hypoplasia | Balanced partial atrioventricular canal · PAVC without ventricular hypoplasia · Partial AVSD without ventricular hypoplasia · Partial atrioventricular canal defect without ventricular hypoplasia · Partial atrioventricular septal defect with balanced ventricles |
| fr | Canal atrioventriculaire partiel sans hypoplasie ventriculaire | PAVC sans hypoplasie ventriculaire · CAV partiel sans hypoplasie ventriculaire · Communication atrioventriculaire partielle sans hypoplasie ventriculaire · Communication atrioventriculaire partielle équilibrée · Communication auriculo-ventriculaire partielle sans hypoplasie ventriculaire · Communication auriculo-ventriculaire partielle équilibrée · Défaut septal atrioventriculaire partiel sans hypoplasie ventriculaire · Défaut septal atrioventriculaire partiel équilibré · Défaut septal auriculo-ventriculaire partiel sans hypoplasie ventriculaire |
| de | Partieller atrioventrikulärer Septumdefekt ohne ventrikuläre Hypoplasie | |
| es | Comunicación auriculoventricular parcial sin hipoplasia ventricular | Defecto septal auriculoventricular parcial sin hipoplasia ventricular |
| it | Difetto parziale del setto atrioventricolare senza ipoplasia ventricolare | AVSD parziale senza ipoplasia ventricolare · Canale atrioventricolare parziale bilanciato · Canale atrioventricolare parziale senza ipoplasia ventricolare · Difetto parziale del setto atrioventricolare con ventricoli bilanciati · PAVC senza ipoplasia ventricolare |
| nl | Partieel atrioventriculair septumdefect zonder ventrikelhypoplasie | |
| pt | Defeito septal auriculoventricular parcial sem hipoplasia ventricular | |
| pl | Częściowy ubytek przegrody przedsionkowo-komorowej bez hipoplazji komór | Częściowy AVSD bez hipoplazji komór |
| cs | Částečný atrioventrikulární septální defekt bez ventrikulární hypoplázie | = en |
| uk | Часткова атріовентрикулярна комунікація без гіпоплазії шлуночків | Збалансований частковий атріовентрикулярний канал · Частковий дефект атріовентрикулярного каналу без гіпоплазії шлуночків · Частковий дефект атріовентрикулярної перегородки зі збалансованими шлуночками · Частковий AVSD без гіпоплазії шлуночків · PAVC без гіпоплазії шлуночків |
| zh | 部分房室间隔缺损伴无心室发育不良 | 部分房型室间隔缺损伴无心室发育不良 |
| tr | Ventriküler hipoplazisiz kısmi atriyoventriküler septal defekt | Dengeli ventriküller ile seyreden kısmi atriyoventriküler septal defekt · Ventriküler hipoplazi ile seyreden kısmi atriyoventriküler kanal defekti · Ventriküler hipoplazi ile seyreden PAVC · Dengeli kısmi atriyoventriküler kanal · Ventriküler hipoplazisiz ile seyreden kısmi AVSD |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| UMLS | C5680352 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1330Partial atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRELD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14630 | ENSG00000163703 | 607170 | 3p25.3 | CRELD disulfide isomerase 1 | 12632326[PMID]_15096951[PMID]_21080147[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576235
- This record as JSON: /data/d/576235.json