CHTD5
MCID: CNG521
MIFTS: 23

Congenital Heart Defects, Multiple Types, 5 (CHTD5)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases

Aliases & Classifications for Congenital Heart Defects, Multiple Types, 5

MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 5:

Name: Congenital Heart Defects, Multiple Types, 5 56 73 29 6
Chtd5 56 73

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
intrafamilial phenotypic variability
biallelic mutations have been reported in 2 patients

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
congenital heart defects, multiple types, 5:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 5

UniProtKB/Swiss-Prot : 73 Congenital heart defects, multiple types, 5: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive.

MalaCards based summary : Congenital Heart Defects, Multiple Types, 5, is also known as chtd5. An important gene associated with Congenital Heart Defects, Multiple Types, 5 is GATA5 (GATA Binding Protein 5). Affiliated tissues include heart and breast, and related phenotypes are dilated cardiomyopathy and ventricular septal defect

More information from OMIM: 617912

Related Diseases for Congenital Heart Defects, Multiple Types, 5

Symptoms & Phenotypes for Congenital Heart Defects, Multiple Types, 5

Human phenotypes related to Congenital Heart Defects, Multiple Types, 5:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 very rare (1%) HP:0001644
2 ventricular septal defect 31 HP:0001629
3 atrial septal defect 31 HP:0001631
4 bicuspid aortic valve 31 HP:0001647
5 tetralogy of fallot 31 HP:0001636
6 double outlet right ventricle 31 HP:0001719
7 aortic valve stenosis 31 HP:0001650
8 atrial fibrillation 31 HP:0005110

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
ventricular septal defect
atrial septal defect
bicuspid aortic valve
tetralogy of fallot
atrial fibrillation
more

Clinical features from OMIM:

617912

Drugs & Therapeutics for Congenital Heart Defects, Multiple Types, 5

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Multiple Types, 5

Genetic Tests for Congenital Heart Defects, Multiple Types, 5

Genetic tests related to Congenital Heart Defects, Multiple Types, 5:

# Genetic test Affiliating Genes
1 Congenital Heart Defects, Multiple Types, 5 29 GATA5

Anatomical Context for Congenital Heart Defects, Multiple Types, 5

MalaCards organs/tissues related to Congenital Heart Defects, Multiple Types, 5:

40
Heart, Breast

Publications for Congenital Heart Defects, Multiple Types, 5

Articles related to Congenital Heart Defects, Multiple Types, 5:

(show all 11)
# Title Authors PMID Year
1
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 56 6
24638895 2014
2
Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. 56 6
23031282 2013
3
GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. 56 6
22961344 2013
4
A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. 56 6
23175127 2013
5
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. 56
28180938 2017
6
GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient. 56
27066509 2016
7
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. 56
25543888 2015
8
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. 56
23295592 2012
9
Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. 56
22641149 2012
10
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. 56
22483626 2012
11
GATA5 activation of the progesterone receptor gene promoter in breast cancer cells is influenced by the +331G/A polymorphism. 56
16452193 2006

Variations for Congenital Heart Defects, Multiple Types, 5

ClinVar genetic disease variations for Congenital Heart Defects, Multiple Types, 5:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA5 NM_080473.5(GATA5):c.569T>C (p.Val190Ala)SNV Pathogenic 496599 rs782051102 20:61048589-61048589 20:62473533-62473533
2 GATA5 NM_080473.5(GATA5):c.595C>G (p.Leu199Val)SNV Pathogenic 496600 rs1555896779 20:61048563-61048563 20:62473507-62473507
3 GATA5 NM_080473.5(GATA5):c.598T>G (p.Trp200Gly)SNV Pathogenic 496601 rs1555896778 20:61048560-61048560 20:62473504-62473504
4 GATA5 NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp)SNV Pathogenic 496602 rs1555897088 20:61050532-61050532 20:62475476-62475476

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Multiple Types, 5:

73
# Symbol AA change Variation ID SNP ID
1 GATA5 p.Arg187Gly VAR_073070
2 GATA5 p.Leu199Val VAR_073071 rs155589677
3 GATA5 p.Trp200Gly VAR_073072 rs155589677
4 GATA5 p.His207Arg VAR_073073
5 GATA5 p.Tyr16Asp VAR_073310 rs155589708
6 GATA5 p.Tyr138Phe VAR_073312
7 GATA5 p.Cys210Gly VAR_073316 rs997414695
8 GATA5 p.Gly240Asp VAR_073317
9 GATA5 p.Thr252Pro VAR_073318

Expression for Congenital Heart Defects, Multiple Types, 5

Search GEO for disease gene expression data for Congenital Heart Defects, Multiple Types, 5.

Pathways for Congenital Heart Defects, Multiple Types, 5

GO Terms for Congenital Heart Defects, Multiple Types, 5

Sources for Congenital Heart Defects, Multiple Types, 5

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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