ORPHA:1478
Interatrial communication
Synonyms: ASD · Atrial septal defect · Interauricular communication
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Interatrial communication | ASD · Atrial septal defect · Interauricular communication |
| fr | Communication interauriculaire | ASD · Anomalie du septum auriculaire · CIA · Communication interatriale |
| de | Interatriale Kommunikation | ASD · Atrialer Septumdefekt · Atriumseptumdefekt · Vorhofseptumdefekt |
| es | Comunicación interauricular | CIA · Defecto septal atrial |
| it | Comunicazione interatriale | ASD · Difetto del setto atriale |
| nl | Interatriale communicatie | ASD · Atriumseptumdefect · Interauriculaire communicatie |
| pt | Comunicação inter-auricular | CIA |
| pl | Komunikacja międzyprzedsionkowa | ASD · Wada przegrody międzyprzedsionkowej |
| cs | Defekt síňového septa | ASD · Spojení mezi oušky síní · Mezisíňová komunikace |
| uk | Міжпередсердна комунікація | ASD · Дефект міжпередсердної перегородки · Міжаурикулярна комунікація |
| zh | 房间隔缺损 | 心房贯通 |
| tr | İnteratriyal iletişim | ASD · Atriyal septal defekt · İnteraurikular iletişim |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108800 | E | validated | |
| OMIM | 607941 | BTNT | validated | |
| OMIM | 611363 | BTNT | validated | |
| OMIM | 612794 | BTNT | validated | |
| OMIM | 613087 | BTNT | validated | |
| OMIM | 614089 | BTNT | validated | |
| OMIM | 614433 | BTNT | validated | |
| OMIM | 614475 | BTNT | validated | |
| ICD-10 | Q21.1 | E | specific | validated |
| ICD-11 | LA8E.Y | NTBT | index | validated |
| MONDO | 0006664 | E | validated | |
| MeSH | D006344 | E | validated | |
| UMLS | C0018817 | E | validated | |
| MedDRA | 10003664 | 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 (2):
- ORPHA:271853Genetic cardiac anomaly
rare genetic diseases - ORPHA:98727Rare atrial defect and interatrial communication
rare developmental anomalies during embryogenesis; rare cardiac malformations
4
Genes
0 direct · 11 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TBX20 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11598 | ENSG00000164532 | 606061 | 7p14.2 | T-box transcription factor 20 | 19762328[PMID] |
| TBX20 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11598 | ENSG00000164532 | 606061 | 7p14.2 | T-box transcription factor 20 | 19762328[PMID] |
| ACTC1 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:143 | ENSG00000159251 | 102540 | 15q14 | actin alpha cardiac muscle 1 | 17947298[PMID] |
| CITED2 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:1987 | ENSG00000164442 | 602937 | 6q24.1 | Cbp/p300 interacting transactivator with ED-rich tail 2 | 16287139[PMID] |
| CITED2 | ORPHA:99105Atrial septal defect, sinus venosus type | 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 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 12845333[PMID]_15810002[PMID]_20347099[PMID] |
| GATA6 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 20631719[PMID] |
| MYH6 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:7576 | ENSG00000197616 | 160710 | 14q11.2 | myosin heavy chain 6 | 15735645[PMID] |
| NKX2-5 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 21285290[PMID]_15810002[PMID] |
| TLL1 | ORPHA:99103Atrial septal defect, ostium secundum type | Disease-causing germline mutation(s) in | Assessed | HGNC:11843 | ENSG00000038295 | 606742 | 4q32.3 | tolloid like 1 | 18830233[PMID] |
| TLL1 | ORPHA:99106Atrial septal defect, ostium primum type | Disease-causing germline mutation(s) in | Assessed | HGNC:11843 | ENSG00000038295 | 606742 | 4q32.3 | tolloid like 1 | 18830233[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 3 / 100 000 | Worldwide | Value and class | Not yet validated | 39144879[PMID]_23225563[PMID]_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.
6
HPO phenotypes
19 annotations · validated 2023-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001684 | Secundum atrial septal defect | |
| Frequent (79-30%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0031664 | Systolic heart murmur | |
| Occasional (29-5%) | ||
| HP:0004749 | Atrial flutter | |
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001962 | Palpitations | |
| HP:0010445 | Primum atrial septal defect | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0033567 | Right axis deviation | |
| HP:0011712 | Right bundle branch block | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0011567 | Sinus venosus atrial septal defect | |
| Very rare (<4-1%) | ||
| HP:0001297 | Stroke | |
| HP:0031297 | Unroofed coronary sinus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30571061[PMID]_32622487[PMID]_34535989[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1478
- This record as JSON: /data/d/1478.json