raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:99105

Atrial septal defect, sinus venosus type

Synonyms: ASD, sinus venosus 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
LangNameSynonyms
enAtrial septal defect, sinus venosus typeASD, sinus venosus type
frCommunication interauriculaire type sinus venosusASD type sinus venosus · CIA type sinus venosus
deAtriumseptumdefekt, Sinus venosus TypVorhofseptumdefekt vom Sinus-venosus-Typ · ASD vom Sinus-venosus-Typ · Sinus-venosus-Defekt
esComunicación interauricular, tipo seno venosoCIA, tipo seno venoso
itDIA, tipo seno venoso
nlAtriaal septaal defect, sinus venosus-typeASD, sinus venosus-type
ptDeficiência do septo auricular, tipo sinus venosus
plUbytek przegrody międzyprzedsionkowej, typ zatoki żylnejASD, typ zatoki żylnej
csDefekt síňového septa, typ sinus venosusASD typ sinus venosus
ukВВС. Дефект міжпередсердної перетинки по типу дефекта венозного синуса (верхній чи нижній)ASD, синусно-венозний тип
zh房间隔缺损静脉窦型静脉窦型房间隔缺损
trAtriyal septal defekt, sinüs venosus tipiASD, sinüs venosus tipi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q21.1NTBTinclusionvalidated
ICD-11LA8E.2Especificvalidated
MONDO0020436Evalidated
MeSHC548009Evalidated
UMLSC0344730Evalidated
GARD10696Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CITED2Disease-causing germline mutation(s) inAssessedHGNC:1987ENSG000001644426029376q24.1Cbp/p300 interacting transactivator with ED-rich tail 216287139[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

27 annotations · validated 2020-03-10
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0012382Left-to-right shunt
Frequent (79-30%)
HP:0010772Anomalous pulmonary venous return
HP:0031546Cardiac conduction abnormality
HP:0003546Exercise intolerance
HP:0002875Exertional dyspnea
HP:0012378Fatigue
HP:0001962Palpitations
HP:0031663Paradoxical splitting of the second heart sound
HP:0031664Systolic heart murmur
Occasional (29-5%)
HP:0001692Atrial arrhythmia
HP:0005110Atrial fibrillation
HP:0004749Atrial flutter
HP:0011700Automatic atrial tachycardia
HP:0002094Dyspnea
HP:0011705First degree atrioventricular block
HP:0011716Junctional ectopic tachycardia
HP:0006699Premature atrial contractions
HP:0002092Pulmonary arterial hypertension
HP:0011712Right bundle branch block
HP:0005133Right ventricular dilatation
HP:0005115Supraventricular arrhythmia
HP:0004755Supraventricular tachycardia
HP:0005180Tricuspid regurgitation
Very rare (<4-1%)
HP:0006536Airway obstruction
HP:0001635Congestive heart failure
HP:0001297Stroke
HP:0001907Thromboembolism

Run the differential on the 1 obligate / very frequent terms

Annotation source: 30305954[PMID]_619811[PMID]_27090050[PMID]_31364173[PMID]

7

Sources for this card