MCID: HRT039
MIFTS: 29

Heart Defects, Congenital, and Other Congenital Anomalies

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Heart Defects, Congenital, and Other Congenital Anomalies

MalaCards integrated aliases for Heart Defects, Congenital, and Other Congenital Anomalies:

Name: Heart Defects, Congenital, and Other Congenital Anomalies 57 75 73
Pancreatic Agenesis and Congenital Heart Defects 57 75 13 73
Pancreatic Agenesis and Congenital Heart Disease 29 6
Pachd 57 75
Hdca 57 75
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 57
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 75
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 59
Heart Disease, Congenital, and Other Congenital Anomalies 40
Pancreatic Agenesis and Congenital Heart Defects; Pachd 57
Yorifuji Okuno Syndrome 73
Yorifuji-Okuno Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems


HPO:

32
heart defects, congenital, and other congenital anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Heart Defects, Congenital, and Other Congenital Anomalies

UniProtKB/Swiss-Prot : 75 Pancreatic agenesis and congenital heart defects: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.

MalaCards based summary : Heart Defects, Congenital, and Other Congenital Anomalies, also known as pancreatic agenesis and congenital heart defects, is related to yorifuji okuno syndrome and pancreatic agenesis. An important gene associated with Heart Defects, Congenital, and Other Congenital Anomalies is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart, pituitary and colon, and related phenotypes are intellectual disability and seizures

Description from OMIM: 600001

Related Diseases for Heart Defects, Congenital, and Other Congenital Anomalies

Diseases related to Heart Defects, Congenital, and Other Congenital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 yorifuji okuno syndrome 12.4
2 pancreatic agenesis 9.9
3 pancreatitis 9.9

Symptoms & Phenotypes for Heart Defects, Congenital, and Other Congenital Anomalies

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
patent foramen ovale
ventricular septal defects, muscular
ventricular septal defect, perimembranous
more
Neurologic Central Nervous System:
developmental delay
seizures (in some patients)
pituitary agenesis (rare)

Genitourinary External Genitalia Male:
inguinal hernia (in some patients)

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Genitourinary Ureters:
ureteral duplication (rare)

Abdomen Liver:
hepatic inflammation

Abdomen Biliary Tract:
gall bladder agenesis
biliary atresia (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus
truncus arteriosus
interrupted aortic arch
pulmonary stenosis
hypoplastic pulmonary artery
more
Endocrine Features:
hyperglycemia
exocrine pancreatic deficiency
transient hypothyroidism (in some patients)

Abdomen External Features:
umbilical hernia (rare)

Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
intestinal malrotation (rare)
colon perforation (rare)
microcolon (rare)

Chest Ribs Sternum Clavicles And Scapulae:
bilateral cervical ribs (rare)
absent right 12th rib (rare)

Abdomen Pancreas:
pancreatic agenesis or severe hypoplasia

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery (rare)


Clinical features from OMIM:

600001

Human phenotypes related to Heart Defects, Congenital, and Other Congenital Anomalies:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 umbilical hernia 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001537
5 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
6 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
7 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
8 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
9 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
10 atrial septal defect 59 32 Very frequent (99-80%) HP:0001631
11 exocrine pancreatic insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0001738
12 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
13 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
14 intestinal malrotation 59 32 occasional (7.5%) Very rare (<4-1%) HP:0002566
15 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
16 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
17 pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004415
18 ureteral duplication 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000073
19 congenital diaphragmatic hernia 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000776
20 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
21 interrupted aortic arch 59 32 very rare (1%) Very rare (<4-1%) HP:0011611
22 single umbilical artery 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001195
23 cervical ribs 59 32 very rare (1%) Very rare (<4-1%) HP:0000891
24 prolonged partial thromboplastin time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003645
25 small for gestational age 59 32 frequent (33%) Frequent (79-30%) HP:0001518
26 biliary atresia 59 32 occasional (7.5%) Very rare (<4-1%) HP:0005912
27 patent foramen ovale 59 32 hallmark (90%) Very frequent (99-80%) HP:0001655
28 congenital hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000851
29 pancreatic hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002594
30 neonatal insulin-dependent diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000857
31 intermittent diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002254
32 pancreatic aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100801
33 hypoplasia of right ventricle 59 32 occasional (7.5%) Occasional (29-5%) HP:0004762
34 hypoplastic tricuspid valve 59 32 occasional (7.5%) Occasional (29-5%) HP:0011573
35 double outlet left ventricle 59 32 occasional (7.5%) Occasional (29-5%) HP:0011581
36 anterior pituitary agenesis 59 32 very rare (1%) Very rare (<4-1%) HP:0010626
37 aplasia/hypoplasia of the gallbladder 59 32 very rare (1%) Very rare (<4-1%) HP:0011466
38 congenital defect of the pericardium 59 32 very rare (1%) Very rare (<4-1%) HP:0011628
39 mild microcephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0040196
40 diabetes mellitus 32 HP:0000819
41 inguinal hernia 32 occasional (7.5%) HP:0000023
42 global developmental delay 32 HP:0001263
43 microcephaly 32 occasional (7.5%) HP:0000252
44 hernia 59 Frequent (79-30%)
45 abnormality of the skeletal system 32 HP:0000924
46 microcolon 32 occasional (7.5%) HP:0004388
47 truncus arteriosus 32 HP:0001660
48 glycosuria 32 HP:0003076
49 hyperglycemia 32 HP:0003074
50 perimembranous ventricular septal defect 32 HP:0011682

Drugs & Therapeutics for Heart Defects, Congenital, and Other Congenital Anomalies

Search Clinical Trials , NIH Clinical Center for Heart Defects, Congenital, and Other Congenital Anomalies

Genetic Tests for Heart Defects, Congenital, and Other Congenital Anomalies

Genetic tests related to Heart Defects, Congenital, and Other Congenital Anomalies:

# Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 29 GATA6

Anatomical Context for Heart Defects, Congenital, and Other Congenital Anomalies

MalaCards organs/tissues related to Heart Defects, Congenital, and Other Congenital Anomalies:

41
Heart, Pituitary, Colon

Publications for Heart Defects, Congenital, and Other Congenital Anomalies

Articles related to Heart Defects, Congenital, and Other Congenital Anomalies:

# Title Authors Year
1
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay. ( 24310933 )
2013

Variations for Heart Defects, Congenital, and Other Congenital Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:

75
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Thr452Ala VAR_067384 rs387906817
2 GATA6 p.Arg456Cys VAR_067385 rs387906818
3 GATA6 p.Arg456His VAR_067386 rs387906819
4 GATA6 p.Asn466Asp VAR_067387 rs387906813
5 GATA6 p.Ala467Thr VAR_067389 rs387906820
6 GATA6 p.Lys473Gln VAR_067390

ClinVar genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.1354A> G (p.Thr452Ala) single nucleotide variant Pathogenic rs387906817 GRCh37 Chromosome 18, 19761465: 19761465
2 GATA6 NM_005257.5(GATA6): c.1354A> G (p.Thr452Ala) single nucleotide variant Pathogenic rs387906817 GRCh38 Chromosome 18, 22181504: 22181504
3 GATA6 NM_005257.5(GATA6): c.1448_1455delTGAAAAAA (p.Met483Argfs) deletion Pathogenic rs587776872 GRCh38 Chromosome 18, 22182776: 22182783
4 GATA6 NM_005257.5(GATA6): c.1448_1455delTGAAAAAA (p.Met483Argfs) deletion Pathogenic rs587776872 GRCh37 Chromosome 18, 19762737: 19762744
5 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh37 Chromosome 18, 19761477: 19761477
6 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh38 Chromosome 18, 22181516: 22181516
7 GATA6 NM_005257.5(GATA6): c.1367G> A (p.Arg456His) single nucleotide variant Pathogenic rs387906819 GRCh37 Chromosome 18, 19761478: 19761478
8 GATA6 NM_005257.5(GATA6): c.1367G> A (p.Arg456His) single nucleotide variant Pathogenic rs387906819 GRCh38 Chromosome 18, 22181517: 22181517
9 GATA6 NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
10 GATA6 NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs387906813 GRCh38 Chromosome 18, 22181546: 22181546
11 GATA6 NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs387906820 GRCh37 Chromosome 18, 19761510: 19761510
12 GATA6 NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs387906820 GRCh38 Chromosome 18, 22181549: 22181549
13 GATA6 NM_005257.5(GATA6): c.1504_1505delAA (p.Lys502Aspfs) deletion Pathogenic rs587776936 GRCh38 Chromosome 18, 22182832: 22182833
14 GATA6 NM_005257.5(GATA6): c.1504_1505delAA (p.Lys502Aspfs) deletion Pathogenic rs587776936 GRCh37 Chromosome 18, 19762793: 19762794
15 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
16 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh38 Chromosome 18, 22171856: 22171856
17 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
18 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh37 Chromosome 18, 19752177: 19752177
19 GATA6 NM_005257.5(GATA6): c.1087C> T (p.Gln363Ter) single nucleotide variant Pathogenic rs797045593 GRCh37 Chromosome 18, 19752192: 19752192
20 GATA6 NM_005257.5(GATA6): c.1087C> T (p.Gln363Ter) single nucleotide variant Pathogenic rs797045593 GRCh38 Chromosome 18, 22172231: 22172231

Expression for Heart Defects, Congenital, and Other Congenital Anomalies

Search GEO for disease gene expression data for Heart Defects, Congenital, and Other Congenital Anomalies.

Pathways for Heart Defects, Congenital, and Other Congenital Anomalies

GO Terms for Heart Defects, Congenital, and Other Congenital Anomalies

Sources for Heart Defects, Congenital, and Other Congenital Anomalies

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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