Atrioventricular canal defect

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 98722
OMIM Id: 600309
606215
606217
614430
614474
ICD-10: Q21.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Atrioventricular valve anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000961) Cyanosis 60 / 7739
2
 (HPO:0011705) First degree atrioventricular block 13 / 7739
3
 (HPO:0001635) Congestive heart failure 232 / 7739
4
 (HPO:0002092) Pulmonary hypertension 109 / 7739
5
 (HPO:0011622) Inlet ventricular septal defect 1 / 7739
6
 (HPO:0010445) Primum atrial septal defect 3 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: