CHTD3
MCID: CNG385
MIFTS: 16

Congenital Heart Defects, Multiple Types, 3 (CHTD3)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases

Aliases & Classifications for Congenital Heart Defects, Multiple Types, 3

MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 3:

Name: Congenital Heart Defects, Multiple Types, 3 56 13 71
Congenital Heart Defects, Multiple Types, with Cardiac Rhythm and Conduction Disturbances 56
Chtd3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
affected individuals may have more than 1 cardiac structural defect, or none at all
based on 13 patients in one family (last curated november 2012)


HPO:

31
congenital heart defects, multiple types, 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 3

OMIM : 56 Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955. (614954)

MalaCards based summary : Congenital Heart Defects, Multiple Types, 3, is also known as congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances. An important gene associated with Congenital Heart Defects, Multiple Types, 3 is CHDT3 (Congenital Heart Defects, Multiple Types, 3). Affiliated tissues include heart, and related phenotypes are atrioventricular block and atrial septal defect

Related Diseases for Congenital Heart Defects, Multiple Types, 3

Symptoms & Phenotypes for Congenital Heart Defects, Multiple Types, 3

Human phenotypes related to Congenital Heart Defects, Multiple Types, 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 31 HP:0001678
2 atrial septal defect 31 HP:0001631
3 tetralogy of fallot 31 HP:0001636
4 tachycardia 31 HP:0001649
5 atrial fibrillation 31 HP:0005110
6 right bundle branch block 31 HP:0011712
7 persistent left superior vena cava 31 HP:0005301
8 atrioventricular dissociation 31 HP:0011709

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
tetralogy of fallot
atrial fibrillation
atrial septal defect, secundum type
low atrial rhythm seen on ecg (in all patients)
right bundle branch block, complete or incomplete
more
Cardiovascular Vascular:
persistent left superior vena cava

Clinical features from OMIM:

614954

Drugs & Therapeutics for Congenital Heart Defects, Multiple Types, 3

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Multiple Types, 3

Genetic Tests for Congenital Heart Defects, Multiple Types, 3

Anatomical Context for Congenital Heart Defects, Multiple Types, 3

MalaCards organs/tissues related to Congenital Heart Defects, Multiple Types, 3:

40
Heart

Publications for Congenital Heart Defects, Multiple Types, 3

Articles related to Congenital Heart Defects, Multiple Types, 3:

# Title Authors PMID Year
1
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q. 56
21386876 2011

Variations for Congenital Heart Defects, Multiple Types, 3

Expression for Congenital Heart Defects, Multiple Types, 3

Search GEO for disease gene expression data for Congenital Heart Defects, Multiple Types, 3.

Pathways for Congenital Heart Defects, Multiple Types, 3

GO Terms for Congenital Heart Defects, Multiple Types, 3

Sources for Congenital Heart Defects, Multiple Types, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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