MCID: CNG521
MIFTS: 11

Congenital Heart Defects, Multiple Types, 5

Categories: Genetic diseases, Cardiovascular 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 6
Chtd5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617912

Summaries for Congenital Heart Defects, Multiple Types, 5

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.

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
ventricular septal defect
double-outlet right ventricle
tetralogy of fallot
bicuspid aortic valve
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

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

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
Content
Loading form....