ATRIOVENTRICULAR SEPTAL DEFECT 3

General Information (adopted from Orphanet):

Synonyms, Signs: AVSD3
Number of Symptoms 12
OrphanetNr:
OMIM Id: 600309
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000961) Cyanosis 60 / 7739
2
 (HPO:0006695) Atrioventricular canal defect 27 / 7739
3
 (HPO:0001674) Complete atrioventricular canal defect 11 / 7739
4
 (HPO:0010445) Primum atrial septal defect 3 / 7739
5
 (HPO:0002092) Pulmonary hypertension 109 / 7739
6
 (OMIM) Ventricular septum inlet defect 1 / 7739
7
 (OMIM) Congestive failure 1 / 7739
8
 (OMIM) Tricuspid and mitral valves are replaced by a single inlet valve 1 / 7739
9
 (OMIM) Chararacteristic 4-chamber echocardiogram 1 / 7739
10
 (OMIM) Superior axis and first-degree heart block on EKG 1 / 7739
11
 (OMIM) Poorly localized midsystolic murmur 1 / 7739
12
 (OMIM) Lower left sternal thrill and pansystolic murmur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a pediatric heart transplant patient with an atrioventricular canal defect, Dasgupta et al. (2001) identified 4 substitutions in the GJA1 gene: 2 missense mutations and 2 silent polymorphisms (see 121014.0011).