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PACHD
MCID: HRT039
MIFTS: 30

Heart Defects, Congenital, and Other Congenital Anomalies (PACHD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Heart Defects, Congenital, and Other Congenital Anomalies

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

Name: Heart Defects, Congenital, and Other Congenital Anomalies 58 76 74
Pancreatic Agenesis and Congenital Heart Defects 58 76 13 74
Pancreatic Agenesis and Congenital Heart Disease 38 30 6
Pachd 58 76
Hdca 58 76
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 58
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 76
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 60
Heart Disease, Congenital, and Other Congenital Anomalies 41
Pancreatic Agenesis and Congenital Heart Defects; Pachd 58
Yorifuji Okuno Syndrome 74
Yorifuji-Okuno Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
heart defects, congenital, and other congenital anomalies:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Rare endocrine diseases


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Summaries for Heart Defects, Congenital, and Other Congenital Anomalies

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UniProtKB/Swiss-Prot : 76 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 exocrine pancreatic insufficiency and ventricular septal defect

Description from OMIM: 600001
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Related Diseases for Heart Defects, Congenital, and Other Congenital Anomalies

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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 12.6
2 pancreatic agenesis 10.0
3 heart disease 10.0

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

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

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exocrine pancreatic insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0001738
2 ventricular septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001629
3 patent foramen ovale 60 33 hallmark (90%) Very frequent (99-80%) HP:0001655
4 neonatal insulin-dependent diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000857
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
8 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
9 small for gestational age 60 33 frequent (33%) Frequent (79-30%) HP:0001518
10 pancreatic hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002594
11 intermittent diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002254
12 pancreatic aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100801
13 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
14 umbilical hernia 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001537
15 neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001319
16 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
17 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
18 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
19 intestinal malrotation 60 33 occasional (7.5%) Very rare (<4-1%) HP:0002566
20 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
21 oligohydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001562
22 pulmonary artery stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004415
23 ureteral duplication 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000073
24 congenital diaphragmatic hernia 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000776
25 transposition of the great arteries 60 33 occasional (7.5%) Occasional (29-5%) HP:0001669
26 single umbilical artery 60 33 occasional (7.5%) Very rare (<4-1%) HP:0001195
27 prolonged partial thromboplastin time 60 33 occasional (7.5%) Occasional (29-5%) HP:0003645
28 hypoplasia of right ventricle 60 33 occasional (7.5%) Occasional (29-5%) HP:0004762
29 biliary atresia 60 33 occasional (7.5%) Very rare (<4-1%) HP:0005912
30 congenital hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000851
31 hypoplastic tricuspid valve 60 33 occasional (7.5%) Occasional (29-5%) HP:0011573
32 double outlet left ventricle 60 33 occasional (7.5%) Occasional (29-5%) HP:0011581
33 inguinal hernia 33 occasional (7.5%) HP:0000023
34 microcephaly 33 occasional (7.5%) HP:0000252
35 microcolon 33 occasional (7.5%) HP:0004388
36 interrupted aortic arch 60 33 very rare (1%) Very rare (<4-1%) HP:0011611
37 cervical ribs 60 33 very rare (1%) Very rare (<4-1%) HP:0000891
38 anterior pituitary agenesis 60 33 very rare (1%) Very rare (<4-1%) HP:0010626
39 aplasia/hypoplasia of the gallbladder 60 33 very rare (1%) Very rare (<4-1%) HP:0011466
40 congenital defect of the pericardium 60 33 very rare (1%) Very rare (<4-1%) HP:0011628
41 mild microcephaly 60 33 very rare (1%) Very rare (<4-1%) HP:0040196
42 colon perforation 33 very rare (1%) HP:0031369
43 atrial septal defect 60 33 Very frequent (99-80%) HP:0001631
44 diabetes mellitus 33 HP:0000819
45 global developmental delay 33 HP:0001263
46 hernia 60 Frequent (79-30%)
47 abnormality of the skeletal system 33 HP:0000924
48 truncus arteriosus 33 HP:0001660
49 glycosuria 33 HP:0003076
50 hyperglycemia 33 HP:0003074

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Heart Defects, Congenital, and Other Congenital Anomalies

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

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

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

# Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 30 GATA6
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Anatomical Context for Heart Defects, Congenital, and Other Congenital Anomalies

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

42
Heart, Pituitary, Colon
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Publications for Heart Defects, Congenital, and Other Congenital Anomalies

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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 )
2014
2
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. ( 24385578 )
2014
3
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. ( 22962692 )
2012
4
GATA6 haploinsufficiency causes pancreatic agenesis in humans. ( 22158542 )
2011
5
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? ( 8071961 )
1994
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Variations for Heart Defects, Congenital, and Other Congenital Anomalies

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

76
# 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 24)
# 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 rs1555628863 GRCh38 Chromosome 18, 22172216: 22172216
18 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs1555628863 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
21 GATA6 NM_005257.5(GATA6): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance rs1253034411 GRCh37 Chromosome 18, 19751338: 19751338
22 GATA6 NM_005257.5(GATA6): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance rs1253034411 GRCh38 Chromosome 18, 22171377: 22171377
23 GATA6 NM_005257.5(GATA6): c.839G> C (p.Gly280Ala) single nucleotide variant Uncertain significance rs904519303 GRCh37 Chromosome 18, 19751944: 19751944
24 GATA6 NM_005257.5(GATA6): c.839G> C (p.Gly280Ala) single nucleotide variant Uncertain significance rs904519303 GRCh38 Chromosome 18, 22171983: 22171983
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Expression for Heart Defects, Congenital, and Other Congenital Anomalies

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

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

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Sources for Heart Defects, Congenital, and Other Congenital Anomalies

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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