ORPHA:576232
Partial atrioventricular septal defect with ventricular hypoplasia
Synonyms: Partial atrioventricular canal defect with ventricular hypoplasia · Partial atrioventricular septal defect with ventricular imbalance · Unbalanced partial atrioventricular canal · PAVC with ventricular hypoplasia · Partial AVSD with ventricular hypoplasia
- 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 with ventricular hypoplasia | Partial atrioventricular canal defect with ventricular hypoplasia · Partial atrioventricular septal defect with ventricular imbalance · Unbalanced partial atrioventricular canal · PAVC with ventricular hypoplasia · Partial AVSD with ventricular hypoplasia |
| fr | Canal atrioventriculaire partiel avec hypoplasie ventriculaire | CAV partiel avec hypoplasie ventriculaire · Communication atrioventriculaire partielle avec hypoplasie ventriculaire · Communication atrioventriculaire partielle déséquilibrée · Communication auriculo-ventriculaire partielle avec hypoplasie ventriculaire · Communication auriculo-ventriculaire partielle déséquilibrée · Défaut septal atrioventriculaire partiel avec hypoplasie ventriculaire · Défaut septal atrioventriculaire partiel déséquilibré · Défaut septal auriculo-ventriculaire partiel avec hypoplasie ventriculaire · PAVC avec hypoplasie ventriculaire |
| de | Partieller atrioventrikulärer Septumdefekt mit ventrikulärer Hypoplasie | |
| es | Comunicación auriculoventricular parcial con hipoplasia ventricular | Defecto septal auriculoventricular parcial con hipoplasia ventricular |
| it | Difetto parziale del setto atrioventricolare con ipoplasia ventricolare | AVSD parziale con ipoplasia ventricolare · Canale atrioventricolare parziale con ipoplasia ventricolare · Canale atrioventricolare parziale sbilanciato · Difetto parziale del setto atrioventricolare con ventricoli sbilanciati · PAVC con ipoplasia ventricolare |
| nl | Partieel atrioventriculair septumdefect met ventrikelhypoplasie | |
| pt | Defeito septal auriculoventricular parcial com hipoplasia ventricular | |
| pl | Częściowy ubytek przegrody przedsionkowo-komorowej z hipoplazją komór | Częściowy AVSD z hipoplazją komór |
| cs | Částečný atrioventrikulární septální defekt s ventrikulární hypoplázií | = en |
| uk | Часткова атріовентрикулярна комунікація з гіпоплазією шлуночків | Частковий дефект атріовентрикулярного каналу з гіпоплазією шлуночків · Частковий дефект атріовентрикулярної перегородки з дисбалансом шлуночків · Часткова AVSD з гіпоплазією шлуночків · PAVC з гіпоплазією шлуночків · Незбалансований частковий атріовентрикулярний канал |
| zh | 部分房室间隔缺损伴有心室发育不良 | 不平衡型部分型房室管 |
| tr | Ventriküler hipoplazi ile seyreden kısmi atriyoventriküler septal defekt | Ventriküler hipoplazili ile seyreden kısmi atriyoventriküler kanal defekti · Ventriküler dengesizli ile seyreden kısmi atriyoventriküler septal defekt · Ventriküler hipoplazi ile seyreden PAVC · Ventriküler hipoplazi ile seyreden kısmi AVSD · Dengesiz kısmi atriyoventriküler kanal |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| UMLS | C5680351 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 17643447[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576232
- This record as JSON: /data/d/576232.json