CHTD3
MCID: CNG385
MIFTS: 18

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 57 13 73
Congenital Heart Defects, Multiple Types, with Cardiac Rhythm and Conduction Disturbances 57
Chtd3 57

Characteristics:

OMIM:

57
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:

32
congenital heart defects, multiple types, 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 3

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 HP:0001678
2 atrial septal defect 32 HP:0001631
3 tetralogy of fallot 32 HP:0001636
4 tachycardia 32 HP:0001649
5 atrial fibrillation 32 HP:0005110
6 right bundle branch block 32 HP:0011712
7 persistent left superior vena cava 32 HP:0005301
8 atrioventricular dissociation 32 HP:0011709

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:

41
Heart

Publications for Congenital Heart Defects, Multiple Types, 3

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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