raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:99106

Atrial septal defect, ostium primum type

Synonyms: ASD, ostium primum 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, ostium primum typeASD, ostium primum type
frCommunication interauriculaire type ostium primumASD type ostium primum · CIA type ostium primum
deAtriumseptumdefekt, Ostium primum TypASD vom Ostium-Primum-Typ · Ostium-primum-Defekt · Septum-primum-Defekt · Vorhofseptumdefekt vom Ostium-primum-Typ
esComunicación interauricular, tipo ostium primumCIA, tipo ostium primum
itDIA, tipo ostium primum
nlAtriaal septaal defect, ostium primum-typeASD, ostium primum-type
ptDefeito do septo auricular, tipo ostium primumCIA, tipo ostium primum
plUbytek przegrody międzyprzedsionkowej, typ otworu pierwotnegoASD, typ otworu pierwotnego
csDefekt síňového septa, typ ostium primumASD typ ostium primum
ukВВС. Первинний дефект міжпередсердної перетинкиASD, тип ostium primum
zh房间隔缺损原发孔型原始型房间隔缺损
trAtriyal septal defekt, ostium primum tipASD, ostium primum tipi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q21.2NTBTinclusionvalidated
MONDO0020437Evalidated
MeSHC548006Evalidated
UMLSC5680294Evalidated
GARD10695Evalidated

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
TLL1Disease-causing germline mutation(s) inAssessedHGNC:11843ENSG000000382956067424q32.3tolloid like 118830233[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

38 annotations · validated 2020-03-11
HPOTerm (as annotated by Orphanet)Diagnostic
Frequent (79-30%)
HP:0031595Abnormal P wave
HP:0031687Abnormally loud pulmonic component of the second heart sound
HP:0002875Exertional dyspnea
HP:0012378Fatigue
HP:0011705First degree atrioventricular block
HP:0031662Fixed splitting of the second heart sound
HP:0001712Left ventricular hypertrophy
HP:0001653Mitral regurgitation
HP:0001962Palpitations
HP:0012248Prolonged PR interval
HP:0004927Pulmonary artery dilatation
HP:0002205Recurrent respiratory infections
HP:0011712Right bundle branch block
HP:0005133Right ventricular dilatation
HP:0031664Systolic heart murmur
HP:0031658Third heart sound
HP:0005180Tricuspid regurgitation
Occasional (29-5%)
HP:0002795Abnormal respiratory system physiology
HP:0006536Airway obstruction
HP:0005110Atrial fibrillation
HP:0004749Atrial flutter
HP:0001678Atrioventricular block
HP:0100759Clubbing of fingers
HP:0100760Clubbing of toes
HP:0001635Congestive heart failure
HP:0000961Cyanosis
HP:0002094Dyspnea
HP:0003546Exercise intolerance
HP:0001508Failure to thrive
HP:0002105Hemoptysis
HP:0031295Left atrial enlargement
HP:0012398Peripheral edema
HP:0002092Pulmonary arterial hypertension
HP:0030718Right atrial enlargement
HP:0001694Right-to-left shunt
HP:0001279Syncope
HP:0002789Tachypnea
HP:0001907Thromboembolism

Annotation source: 24725467[PMID]_13410952[PMID]

7

Sources for this card