Conotruncal heart malformations

General Information (adopted from Orphanet):

Synonyms, Signs: CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED
INTERRUPTED AORTIC ARCH, INCLUDED
DORV, INCLUDED
CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED
PTA, INCLUDED
CAFS, INCLUDED
DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED
PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED
Number of Symptoms 17
OrphanetNr: 2445
OMIM Id: 217095
ICD-10:
UMLs: C1857586
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Transposition of the great arteries and conotruncal cardiac anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
2
 (HPO:0010055) Broad hallux 56 / 7739
3
 (HPO:0100259) Postaxial polydactyly 85 / 7739
4
 (HPO:0001636) Tetralogy of Fallot Very frequent [Orphanet] 104 / 7739
5
 (HPO:0001669) Transposition of the great arteries Very frequent [Orphanet] 36 / 7739
6
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
7
 (HPO:0001680) Coarctation of aorta 57 / 7739
8
 (HPO:0001719) Double outlet right ventricle 12 / 7739
9
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
10
 (HPO:0001674) Complete atrioventricular canal defect 11 / 7739
11
 (HPO:0001660) Truncus arteriosus 21 / 7739
12
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
13
 (HPO:0003220) Abnormality of chromosome stability Frequent [Orphanet] 98 / 7739
14
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
15
 (OMIM) Frequent microdeletions of 22q11.2 3 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Conotruncal malformations 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a study of the families of children with cardiac malformations, Pierpont et al. (1988) found that conotruncal malformations carry a higher recurrence risk than other cardiac defects and proposed a monogenic mode of inheritance. Rein et al. ...
Molecular genetics OMIM Goldmuntz et al. (2002) presented evidence for a role of CFC1 mutations (605194.0003) in the etiology of TGA and DORV.

Yagi et al. (2003) identified mutations in the TBX1 gene (602054.0001 and 602054.0003) in heterozygous state ...