ORPHA:99103
Atrial septal defect, ostium secundum type
Synonyms: ASD, ostium secundum type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
This disease is described under Interatrial communication
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atrial septal defect, ostium secundum type | ASD, ostium secundum type |
| fr | Anomalie du septum atrial type ostium secundum | ASD type ostium secundum · CIA type ostium secundum |
| de | Atriumseptumdefekt, Sekundum-Typ | ASD vom Secundum-Typ · Atrioseptaldefekt vom Septum-secundum-Typ · Septum-secundum-Defekt · Vorhofseptumdefekt vom Sekundumtyp |
| es | Comunicación interauricular, tipo ostium secundum | CIA, tipo ostium secundum |
| it | Difetto del setto atriale, tipo ostium secundum | |
| nl | Atriaal septaal defect, ostium secundum-type | ASD, ostium secundum-type |
| pt | Defeito do septo auricular, tipo ostium secundum | |
| pl | Ubytek przegrody międzyprzedsionkowej, typ otworu wtórnego | ASD, typ otworu wtórnego |
| cs | Defekt síňového septa, typ ostium secundum | ASD typ ostium secundum |
| uk | ВВС. Вторинний дефект міжпередсердної перетинки | ASD, тип ostium secundum |
| zh | 房间隔缺损继发孔型 | 继发孔型ASD |
| tr | Atriyal septal defekt, ostium sekundum tipi | ASD, ostium sekundum tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611363 | BTNT | validated | |
| OMIM | 614089 | BTNT | validated | |
| OMIM | 614430 | NTBT | validated | |
| ICD-10 | Q21.1 | NTBT | inclusion | validated |
| ICD-11 | LA8E.1 | E | specific | validated |
| MONDO | 0020434 | E | validated | |
| UMLS | C0344724 | E | validated | |
| GARD | 5865 | E | validated | |
| MedDRA | 10031303 | 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:1478Interatrial communication
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX20 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11598 | ENSG00000164532 | 606061 | 7p14.2 | T-box transcription factor 20 | 19762328[PMID] |
| TBX20 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11598 | ENSG00000164532 | 606061 | 7p14.2 | T-box transcription factor 20 | 19762328[PMID] |
| ACTC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:143 | ENSG00000159251 | 102540 | 15q14 | actin alpha cardiac muscle 1 | 17947298[PMID] |
| CITED2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1987 | ENSG00000164442 | 602937 | 6q24.1 | Cbp/p300 interacting transactivator with ED-rich tail 2 | 16287139[PMID] |
| GATA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 12845333[PMID]_15810002[PMID]_20347099[PMID] |
| GATA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 20631719[PMID] |
| MYH6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7576 | ENSG00000197616 | 160710 | 14q11.2 | myosin heavy chain 6 | 15735645[PMID] |
| NKX2-5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 21285290[PMID]_15810002[PMID] |
| TLL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11843 | ENSG00000038295 | 606742 | 4q32.3 | tolloid like 1 | 18830233[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
35 annotations · validated 2020-03-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012382 | Left-to-right shunt | |
| Frequent (79-30%) | ||
| HP:0003546 | Exercise intolerance | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001962 | Palpitations | |
| HP:0030718 | Right atrial enlargement | |
| HP:0031664 | Systolic heart murmur | |
| Occasional (29-5%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0005110 | Atrial fibrillation | |
| HP:0004749 | Atrial flutter | |
| HP:0005957 | Breathing dysregulation | |
| HP:0011710 | Bundle branch block | |
| HP:0001635 | Congestive heart failure | |
| HP:0002094 | Dyspnea | |
| HP:0011705 | First degree atrioventricular block | |
| HP:0001653 | Mitral regurgitation | |
| HP:0012764 | Orthopnea | |
| HP:0010741 | Pedal edema | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0012250 | ST segment depression | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0000961 | Cyanosis | |
| HP:0005317 | Increased pulmonary vascular resistance | |
| HP:0002090 | Pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0001708 | Right ventricular failure | |
| HP:0001297 | Stroke | |
| HP:0001279 | Syncope | |
| HP:0002326 | Transient ischemic attack | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21505579[PMID]_29250321[PMID]_30799379[PMID]_30305954[PMID]_30571061[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99103
- This record as JSON: /data/d/99103.json