congenital Gerbode defect
diseaseOn this page
Also known as Gerbode defectleft ventricular-to-right atrial communication
Summary
congenital Gerbode defect (MONDO:0020428) is a disease. A subtype of congenital heart malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Europe)
- Phenotypes (HPO): 28
Clinical features
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001629 | Ventricular septal defect | Very frequent (80-99%) |
| HP:0012382 | Left-to-right shunt | Very frequent (80-99%) |
| HP:0001635 | Congestive heart failure | Frequent (30-79%) |
| HP:0001667 | Right ventricular hypertrophy | Frequent (30-79%) |
| HP:0001708 | Right ventricular failure | Frequent (30-79%) |
| HP:0001785 | Ankle swelling | Frequent (30-79%) |
| HP:0001945 | Fever | Frequent (30-79%) |
| HP:0001962 | Palpitations | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0005168 | Elevated right atrial pressure | Frequent (30-79%) |
| HP:0006689 | Bacterial endocarditis | Frequent (30-79%) |
| HP:0011682 | Perimembranous ventricular septal defect | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0012398 | Peripheral edema | Frequent (30-79%) |
| HP:0030718 | Right atrial enlargement | Frequent (30-79%) |
| HP:0030830 | Crackles | Frequent (30-79%) |
| HP:0031443 | Abnormal tricuspid valve leaflet morphology | Frequent (30-79%) |
| HP:0031664 | Systolic heart murmur | Frequent (30-79%) |
| HP:0031667 | Holosystolic murmur | Frequent (30-79%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0001642 | Pulmonic stenosis | Occasional (5-29%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (5-29%) |
| HP:0002563 | Constrictive pericarditis | Occasional (5-29%) |
| HP:0002617 | Dilatation | Occasional (5-29%) |
| HP:0005180 | Tricuspid regurgitation | Occasional (5-29%) |
| HP:0010741 | Pedal edema | Occasional (5-29%) |
| HP:0030848 | Elevated jugular venous pressure | Occasional (5-29%) |
| HP:0100749 | Chest pain | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital Gerbode defect |
| Mondo ID | MONDO:0020428 |
| Orphanet | 99095 |
| ICD-11 | 1370033158 |
| SNOMED CT | 204312002 |
| UMLS | C0344947 |
| MedGen | 576645 |
| GARD | 0019647 |
| Is cancer (heuristic) | no |
Also known as: Gerbode defect · left ventricular-to-right atrial communication
Disease family
This is a subtype of congenital heart malformation. 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 › congenital anomaly of cardiovascular system › congenital heart malformation › congenital Gerbode defect
Related subtypes (25): transposition of the great arteries, congenital left-sided heart lesions, interventricular septum aneurysm, congenital heart defects, multiple types, 2, coronary artery congenital malformation, criss-cross heart, triatrial heart, familial idiopathic dilatation of the right atrium, cardiac diverticulum, conotruncal heart malformations, congenital mitral malformation, congenital pericardium anomaly, ectopia cordis, visceral heterotaxy, mesocardia, univentricular cardiopathy, congenital anomaly of the great arteries, Laubry-Pezzi syndrome, juxtaposition of the atrial appendages, ectasia of the right atrial appendage, ectasia of the left appendage, atrial septal aneurysm, congenital acardia, congenital right-sided heart lesions, congenital heart defects, multiple types, 1, X-linked
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.