CHTD4
MCID: CNG404
MIFTS: 21

Congenital Heart Defects, Multiple Types, 4 (CHTD4)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases

Aliases & Classifications for Congenital Heart Defects, Multiple Types, 4

MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 4:

Name: Congenital Heart Defects, Multiple Types, 4 57 75 29 6 73
Chtd4 57 75
Heart Defects, Congenital, Multiple Types, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
congenital heart defects, multiple types, 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 4

UniProtKB/Swiss-Prot : 75 Congenital heart defects, multiple types, 4: 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, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.

MalaCards based summary : Congenital Heart Defects, Multiple Types, 4, is also known as chtd4. An important gene associated with Congenital Heart Defects, Multiple Types, 4 is NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2), and among its related pathways/superpathways are Developmental Biology and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include heart, and related phenotypes are coarctation of aorta and hypoplastic left heart

Description from OMIM: 615779

Related Diseases for Congenital Heart Defects, Multiple Types, 4

Symptoms & Phenotypes for Congenital Heart Defects, Multiple Types, 4

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
coarctation of aorta

Cardiovascular Heart:
hypoplastic left heart
tetralogy of fallot
ventricular septal defect
aortic stenosis
atrioventricular septal defect


Clinical features from OMIM:

615779

Human phenotypes related to Congenital Heart Defects, Multiple Types, 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 32 HP:0001680
2 hypoplastic left heart 32 HP:0004383
3 tetralogy of fallot 32 HP:0001636
4 ventricular septal defect 32 HP:0001629
5 atrioventricular canal defect 32 HP:0006695
6 aortic valve stenosis 32 HP:0001650

Drugs & Therapeutics for Congenital Heart Defects, Multiple Types, 4

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Multiple Types, 4

Genetic Tests for Congenital Heart Defects, Multiple Types, 4

Genetic tests related to Congenital Heart Defects, Multiple Types, 4:

# Genetic test Affiliating Genes
1 Congenital Heart Defects, Multiple Types, 4 29 NR2F2

Anatomical Context for Congenital Heart Defects, Multiple Types, 4

MalaCards organs/tissues related to Congenital Heart Defects, Multiple Types, 4:

41
Heart

Publications for Congenital Heart Defects, Multiple Types, 4

Variations for Congenital Heart Defects, Multiple Types, 4

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Multiple Types, 4:

75
# Symbol AA change Variation ID SNP ID
1 NR2F2 p.Asp170Val VAR_071767
2 NR2F2 p.Asn205Ile VAR_071768 rs587777372
3 NR2F2 p.Glu251Asp VAR_071769
4 NR2F2 p.Ser341Tyr VAR_071770 rs587777371
5 NR2F2 p.Ala412Ser VAR_071771 rs201527820

ClinVar genetic disease variations for Congenital Heart Defects, Multiple Types, 4:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2F2 NM_021005.3(NR2F2): c.1022C> A (p.Ser341Tyr) single nucleotide variant Pathogenic rs587777371 GRCh38 Chromosome 15, 96337399: 96337399
2 NR2F2 NM_021005.3(NR2F2): c.1022C> A (p.Ser341Tyr) single nucleotide variant Pathogenic rs587777371 GRCh37 Chromosome 15, 96880628: 96880628
3 NR2F2 NM_001145155.1(NR2F2): c.215A> T (p.Asn72Ile) single nucleotide variant Pathogenic rs587777372 GRCh38 Chromosome 15, 96334247: 96334247
4 NR2F2 NM_001145155.1(NR2F2): c.215A> T (p.Asn72Ile) single nucleotide variant Pathogenic rs587777372 GRCh37 Chromosome 15, 96877476: 96877476
5 NR2F2 NM_021005.3(NR2F2): c.222_224dupGCA (p.Gln75_His76insGln) duplication Pathogenic rs587777373 GRCh37 Chromosome 15, 96875556: 96875558
6 NR2F2 NM_021005.3(NR2F2): c.222_224dupGCA (p.Gln75_His76insGln) duplication Pathogenic rs587777373 GRCh38 Chromosome 15, 96332327: 96332329
7 NR2F2 NM_001145155.1(NR2F2): c.571+1G> A single nucleotide variant Pathogenic rs587777374 GRCh38 Chromosome 15, 96334604: 96334604
8 NR2F2 NM_001145155.1(NR2F2): c.571+1G> A single nucleotide variant Pathogenic rs587777374 GRCh37 Chromosome 15, 96877833: 96877833
9 NR2F2 NM_021005.3(NR2F2): c.129C> G (p.Pro43=) single nucleotide variant Likely benign rs551936462 GRCh38 Chromosome 15, 96332234: 96332234
10 NR2F2 NM_021005.3(NR2F2): c.129C> G (p.Pro43=) single nucleotide variant Likely benign rs551936462 GRCh37 Chromosome 15, 96875463: 96875463
11 NR2F2 NM_021005.3(NR2F2): c.709C> T (p.Gln237Ter) single nucleotide variant Uncertain significance rs878855066 GRCh38 Chromosome 15, 96334342: 96334342
12 NR2F2 NM_021005.3(NR2F2): c.709C> T (p.Gln237Ter) single nucleotide variant Uncertain significance rs878855066 GRCh37 Chromosome 15, 96877571: 96877571
13 NR2F2 NM_021005.3(NR2F2): c.834G> A (p.Ser278=) single nucleotide variant Benign rs199886454 GRCh37 Chromosome 15, 96877696: 96877696
14 NR2F2 NM_021005.3(NR2F2): c.834G> A (p.Ser278=) single nucleotide variant Benign rs199886454 GRCh38 Chromosome 15, 96334467: 96334467
15 NR2F2 NM_021005.3(NR2F2): c.247G> T (p.Gly83Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 96875581: 96875581
16 NR2F2 NM_021005.3(NR2F2): c.247G> T (p.Gly83Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 96332352: 96332352
17 NR2F2 NM_021005.3(NR2F2): c.537C> T (p.Ser179=) single nucleotide variant Benign rs143951395 GRCh37 Chromosome 15, 96877399: 96877399
18 NR2F2 NM_021005.3(NR2F2): c.537C> T (p.Ser179=) single nucleotide variant Benign rs143951395 GRCh38 Chromosome 15, 96334170: 96334170
19 NR2F2 NM_021005.3(NR2F2): c.83_84dup (p.Val29Profs) duplication Likely pathogenic GRCh37 Chromosome 15, 96875417: 96875418
20 NR2F2 NM_021005.3(NR2F2): c.83_84dup (p.Val29Profs) duplication Likely pathogenic GRCh38 Chromosome 15, 96332188: 96332189
21 NR2F2 GRCh37/hg19 15q26.2(chr15: 96878571-96880063)x1 copy number loss Likely pathogenic GRCh37 Chromosome 15, 96878571: 96880063

Expression for Congenital Heart Defects, Multiple Types, 4

Search GEO for disease gene expression data for Congenital Heart Defects, Multiple Types, 4.

Pathways for Congenital Heart Defects, Multiple Types, 4

Pathways related to Congenital Heart Defects, Multiple Types, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 MIR1469 NR2F2
2
Show member pathways
11.93 MIR1469 NR2F2
3 11.11 MIR1469 NR2F2
4
Show member pathways
10.58 MIR1469 NR2F2

GO Terms for Congenital Heart Defects, Multiple Types, 4

Sources for Congenital Heart Defects, Multiple Types, 4

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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