Atrial septal defect, coronary sinus type

Summary

Atrial septal defect, coronary sinus type (MONDO:0020435) is a disease. A subtype of atrial septal defect — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 26

Clinical features

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0012382	Left-to-right shunt	Very frequent (80-99%)
HP:0031297	Unroofed coronary sinus	Very frequent (80-99%)
HP:0001962	Palpitations	Frequent (30-79%)
HP:0002875	Exertional dyspnea	Frequent (30-79%)
HP:0003546	Exercise intolerance	Frequent (30-79%)
HP:0010772	Anomalous pulmonary venous return	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0031634	Anomalous origin of the left common carotid artery from the main pulmonary artery	Frequent (30-79%)
HP:0031664	Systolic heart murmur	Frequent (30-79%)
HP:0031687	Abnormally loud pulmonic component of the second heart sound	Frequent (30-79%)
HP:0002092	Pulmonary arterial hypertension	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0002326	Transient ischemic attack	Occasional (5-29%)
HP:0005115	Supraventricular arrhythmia	Occasional (5-29%)
HP:0005133	Right ventricular dilatation	Occasional (5-29%)
HP:0011675	Arrhythmia	Occasional (5-29%)
HP:0011710	Bundle branch block	Occasional (5-29%)
HP:0030718	Right atrial enlargement	Occasional (5-29%)
HP:0031972	Presyncope	Occasional (5-29%)
HP:0000961	Cyanosis	Very rare (<1-4%)
HP:0001279	Syncope	Very rare (<1-4%)
HP:0001297	Stroke	Very rare (<1-4%)
HP:0001708	Right ventricular failure	Very rare (<1-4%)
HP:0002090	Pneumonia	Very rare (<1-4%)
HP:0002718	Recurrent bacterial infections	Very rare (<1-4%)
HP:0005317	Increased pulmonary vascular resistance	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	atrial septal defect, coronary sinus type
Mondo ID	MONDO:0020435
Orphanet	99104
ICD-11	664625334, 800577917
SNOMED CT	40272001
UMLS	C2063331
MedGen	488986
GARD	0010697
Is cancer (heuristic)	no

Also known as: ASD coronary sinus · ASD, coronary sinus type · atrial septal defect coronary sinus · coronary sinus atrial septal defects · unroofed coronary sinus

Disease family

This is a subtype of atrial septal defect. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › congenital heart disease › heart septal defect › atrial septal defect › atrial septal defect, coronary sinus type

Related subtypes (14): Lutembacher syndrome, atrial septal defect 1, atrial septal defect 7, atrial septal defect 2, atrial septal defect 4, atrial septal defect 5, atrial septal defect 6, atrial septal defect 3, atrial septal defect 8, atrial septal defect 9, atrial septal defect, ostium secundum type, atrial septal defect, sinus venosus type, atrial septal defect, ostium primum type, patent foramen ovale

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.