CHTD5
MCID: CNG521
MIFTS: 18

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 57 75 29 6
Chtd5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32
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 : 75 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 atrial septal defect and bicuspid aortic valve

Description from OMIM: 617912

Related Diseases for Congenital Heart Defects, Multiple Types, 5

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
tetralogy of fallot
ventricular septal defect
atrial fibrillation
more

Clinical features from OMIM:

617912

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 bicuspid aortic valve 32 HP:0001647
3 dilated cardiomyopathy 32 very rare (1%) HP:0001644
4 tetralogy of fallot 32 HP:0001636
5 ventricular septal defect 32 HP:0001629
6 aortic valve stenosis 32 HP:0001650
7 atrial fibrillation 32 HP:0005110
8 double outlet right ventricle 32 HP:0001719

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:

41
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:

75
# 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 GRCh37 Chromosome 20, 61048563: 61048563
4 GATA5 NM_080473.4(GATA5): c.595C> G (p.Leu199Val) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 62473507: 62473507
5 GATA5 NM_080473.4(GATA5): c.598T> G (p.Trp200Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 62473504: 62473504
6 GATA5 NM_080473.4(GATA5): c.598T> G (p.Trp200Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 61048560: 61048560
7 GATA5 NM_080473.4(GATA5): c.46T> G (p.Tyr16Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 62475476: 62475476
8 GATA5 NM_080473.4(GATA5): c.46T> G (p.Tyr16Asp) single nucleotide variant Pathogenic 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 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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