ORPHA:1479
Atrial septal defect-atrioventricular conduction defects syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atrial septal defect-atrioventricular conduction defects syndrome | |
| fr | Syndrome de communication interauriculaire-trouble de la conduction atrioventriculaire | |
| de | Atriumseptumdefekt mit atrio-ventrikulären Reizleitungsstörungen | Vorhofseptumdefekt mit atrio-ventrikulären Reizleitungsstörungen |
| es | Síndrome de comunicación interauricular con defecto de conducción | |
| it | Difetto interatriale con difetto di conduzione | |
| nl | Atriumseptumdefect - atrioventriculaire geleidingsdefecten-syndroom | |
| pt | Comunicação inter-auricular-defeito na condução auriculo-ventricular | |
| pl | Wada przegrody międzyprzedsionkowej - zaburzenia przewodzenia przedsionkowo-komorowe | |
| cs | Syndrom zahrnující defekt septa síní a poruchy atrioventrikulárního převodu | |
| uk | Синдром дефекту міжпередсердної перегородки-порушення атріовентрикулярної провідності | |
| zh | 房间隔缺损-房室传导障碍综合征 | |
| tr | Atriyal septal defekt-atriyoventriküler kondüksiyon defektleri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108900 | E | validated | |
| ICD-10 | Q21.1 | NTBT | attributed | validated |
| ICD-11 | LA8E.1 | NTBT | attributed | validated |
| MONDO | 0007173 | E | validated | |
| UMLS | C4510872 | 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:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
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 |
|---|---|---|---|---|---|---|---|---|
| NKX2-5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 19049681[PMID]_18375255[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 9561886[PMID] |
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
3 annotations · validated 2017-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0011710 | Bundle branch block | |
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/1479
- This record as JSON: /data/d/1479.json