CHTD5
MCID: CNG521
MIFTS: 18

Congenital Heart Defects, Multiple Types, 5 (CHTD5)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases, Skin 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 58 76 30 6
Chtd5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
congenital heart defects, multiple types, 5:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 5

UniProtKB/Swiss-Prot : 76 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 related phenotypes are dilated cardiomyopathy and atrial septal defect

Description 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 very rare (1%) HP:0001644
2 atrial septal defect 33 HP:0001631
3 bicuspid aortic valve 33 HP:0001647
4 tetralogy of fallot 33 HP:0001636
5 ventricular septal defect 33 HP:0001629
6 aortic valve stenosis 33 HP:0001650
7 atrial fibrillation 33 HP:0005110
8 double outlet right ventricle 33 HP:0001719

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
tetralogy of fallot
ventricular septal defect
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 30

Anatomical Context for Congenital Heart Defects, Multiple Types, 5

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

42
Heart

Publications for Congenital Heart Defects, Multiple Types, 5

Variations for Congenital Heart Defects, Multiple Types, 5

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

76
# Symbol AA change Variation ID SNP ID
1 GATA5 p.Arg187Gly VAR_073070
2 GATA5 p.Leu199Val VAR_073071
3 GATA5 p.Trp200Gly VAR_073072
4 GATA5 p.His207Arg VAR_073073
5 GATA5 p.Tyr16Asp VAR_073310
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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA5 NM_080473.4(GATA5): c.569T> C (p.Val190Ala) single nucleotide variant Pathogenic rs782051102 GRCh37 Chromosome 20, 61048589: 61048589
2 GATA5 NM_080473.4(GATA5): c.569T> C (p.Val190Ala) single nucleotide variant Pathogenic rs782051102 GRCh38 Chromosome 20, 62473533: 62473533
3 GATA5 NM_080473.4(GATA5): c.595C> G (p.Leu199Val) single nucleotide variant Pathogenic rs1555896779 GRCh37 Chromosome 20, 61048563: 61048563
4 GATA5 NM_080473.4(GATA5): c.595C> G (p.Leu199Val) single nucleotide variant Pathogenic rs1555896779 GRCh38 Chromosome 20, 62473507: 62473507
5 GATA5 NM_080473.4(GATA5): c.598T> G (p.Trp200Gly) single nucleotide variant Pathogenic rs1555896778 GRCh38 Chromosome 20, 62473504: 62473504
6 GATA5 NM_080473.4(GATA5): c.598T> G (p.Trp200Gly) single nucleotide variant Pathogenic rs1555896778 GRCh37 Chromosome 20, 61048560: 61048560
7 GATA5 NM_080473.4(GATA5): c.46T> G (p.Tyr16Asp) single nucleotide variant Pathogenic rs1555897088 GRCh38 Chromosome 20, 62475476: 62475476
8 GATA5 NM_080473.4(GATA5): c.46T> G (p.Tyr16Asp) single nucleotide variant Pathogenic rs1555897088 GRCh37 Chromosome 20, 61050532: 61050532

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
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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