CHTD3
MCID: CNG385
MIFTS: 18

Congenital Heart Defects, Multiple Types, 3 (CHTD3)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases, Skin 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 58 13 74
Congenital Heart Defects, Multiple Types, with Cardiac Rhythm and Conduction Disturbances 58
Chtd3 58

Characteristics:

OMIM:

58
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:

33
congenital heart defects, multiple types, 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 3

OMIM : 58 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 skin, 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 33 HP:0001678
2 atrial septal defect 33 HP:0001631
3 tetralogy of fallot 33 HP:0001636
4 tachycardia 33 HP:0001649
5 atrial fibrillation 33 HP:0005110
6 right bundle branch block 33 HP:0011712
7 persistent left superior vena cava 33 HP:0005301
8 atrioventricular dissociation 33 HP:0011709

Symptoms via clinical synopsis from OMIM:

58
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:

42
Heart, Skin

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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