MCID: PNC092
MIFTS: 33

Pancreatic Agenesis and Congenital Heart Defects

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

MalaCards integrated aliases for Pancreatic Agenesis and Congenital Heart Defects:

Name: Pancreatic Agenesis and Congenital Heart Defects 54 24 71 13 69
Heart Defects, Congenital, and Other Congenital Anomalies 71 69
Pachd 24 71
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 24
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 71
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 56
Pancreatic Agenesis and Congenital Heart Disease 29
Yorifuji Okuno Syndrome 69
Yorifuji-Okuno Syndrome 56
Hdca 71

Characteristics:

Orphanet epidemiological data:

56
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
pancreatic agenesis and congenital heart defects:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Pancreatic Agenesis and Congenital Heart Defects

UniProtKB/Swiss-Prot : 71 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 : Pancreatic Agenesis and Congenital Heart Defects, also known as heart defects, congenital, and other congenital anomalies, is related to yorifuji okuno syndrome and pancreatic agenesis, and has symptoms including failure to thrive, umbilical hernia and seizures. An important gene associated with Pancreatic Agenesis and Congenital Heart Defects is GATA6 (GATA Binding Protein 6). The drugs Iron and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include heart, pituitary and colon.

Description from OMIM: 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

Diseases related to Pancreatic Agenesis and Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 yorifuji okuno syndrome 11.3
2 pancreatic agenesis 9.9
3 pancreatitis 9.9

Symptoms & Phenotypes for Pancreatic Agenesis and Congenital Heart Defects

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
intrauterine growth retardation

Endocrine Features:
hyperglycemia
exocrine pancreatic deficiency
transient hypothyroidism (in some patients)

Cardiovascular- Vascular:
patent ductus arteriosus
pulmonary stenosis
interrupted aortic arch
truncus arteriosus
hypoplastic pulmonary artery
more
Abdomen- External Features:
umbilical hernia (rare)

Chest- Diaphragm:
diaphragmatic hernia (in some patients)

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)

Neurologic- Central Nervous System:
seizures (in some patients)
developmental delay
pituitary agenesis (rare)

Cardiovascular- Heart:
atrial septal defect
tetralogy of fallot
patent foramen ovale
ventricular septal defects, muscular
ventricular septal defect, perimembranous
more
Head And Neck- Head:
microcephaly (in some patients)

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

Abdomen- Gastroin testinal:
intestinal malrotation (rare)
colon perforation (rare)
microcolon (rare)

Abdomen- Liver:
hepatic inflammation

Genitourinary- Ureters:
ureteral duplication (rare)

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


Clinical features from OMIM:

600001

Human phenotypes related to Pancreatic Agenesis and Congenital Heart Defects:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 umbilical hernia 56 32 occasional (7.5%) Very rare (<4-1%) HP:0001537
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
5 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
6 ureteral duplication 56 32 occasional (7.5%) Very rare (<4-1%) HP:0000073
7 respiratory distress 56 32 occasional (7.5%) Occasional (29-5%) HP:0002098
8 neonatal hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001319
9 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
10 ventricular septal defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0001629
11 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
12 patent foramen ovale 56 32 hallmark (90%) Very frequent (99-80%) HP:0001655
13 pulmonic stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001642
14 single umbilical artery 56 32 occasional (7.5%) Very rare (<4-1%) HP:0001195
15 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
16 oligohydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001562
17 intestinal malrotation 56 32 occasional (7.5%) Very rare (<4-1%) HP:0002566
18 small for gestational age 56 32 frequent (33%) Frequent (79-30%) HP:0001518
19 pulmonary artery stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004415
20 interrupted aortic arch 56 32 very rare (1%) Very rare (<4-1%) HP:0011611
21 congenital diaphragmatic hernia 56 32 occasional (7.5%) Very rare (<4-1%) HP:0000776
22 cervical ribs 56 32 very rare (1%) Very rare (<4-1%) HP:0000891
23 biliary atresia 56 32 occasional (7.5%) Very rare (<4-1%) HP:0005912
24 exocrine pancreatic insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0001738
25 congenital hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000851
26 transposition of the great arteries 56 32 occasional (7.5%) Occasional (29-5%) HP:0001669
27 neonatal insulin-dependent diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000857
28 intermittent diarrhea 56 32 frequent (33%) Frequent (79-30%) HP:0002254
29 hypoplasia of right ventricle 56 32 occasional (7.5%) Occasional (29-5%) HP:0004762
30 prolonged partial thromboplastin time 56 32 occasional (7.5%) Occasional (29-5%) HP:0003645
31 pancreatic hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002594
32 pancreatic aplasia 56 32 frequent (33%) Frequent (79-30%) HP:0100801
33 hypoplastic tricuspid valve 56 32 occasional (7.5%) Occasional (29-5%) HP:0011573
34 double outlet left ventricle 56 32 occasional (7.5%) Occasional (29-5%) HP:0011581
35 anterior pituitary agenesis 56 32 very rare (1%) Very rare (<4-1%) HP:0010626
36 aplasia/hypoplasia of the gallbladder 56 32 very rare (1%) Very rare (<4-1%) HP:0011466
37 congenital defect of the pericardium 56 32 very rare (1%) Very rare (<4-1%) HP:0011628
38 mild microcephaly 56 32 very rare (1%) Very rare (<4-1%) HP:0040196
39 microcephaly 32 occasional (7.5%) HP:0000252
40 hernia 56 Frequent (79-30%)
41 hyperglycemia 32 HP:0003074
42 global developmental delay 32 HP:0001263
43 inguinal hernia 32 occasional (7.5%) HP:0000023
44 diabetes mellitus 32 HP:0000819
45 microcolon 32 occasional (7.5%) HP:0004388
46 glycosuria 32 HP:0003076
47 truncus arteriosus 32 HP:0001660
48 perimembranous ventricular septal defect 32 HP:0011682
49 atria septal defect 56 Very frequent (99-80%)

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

Drugs for Pancreatic Agenesis and Congenital Heart Defects (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2 Micronutrients
3 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
2 Genes Influencing Iron Overload State Active, not recruiting NCT01158794

Search NIH Clinical Center for Pancreatic Agenesis and Congenital Heart Defects

Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

Genetic tests related to Pancreatic Agenesis and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 29
2 Pancreatic Agenesis and Congenital Heart Defects 24 GATA6

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

MalaCards organs/tissues related to Pancreatic Agenesis and Congenital Heart Defects:

39
Heart, Pituitary, Colon

Publications for Pancreatic Agenesis and Congenital Heart Defects

Articles related to Pancreatic Agenesis and Congenital Heart Defects:

id 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 Pancreatic Agenesis and Congenital Heart Defects

UniProtKB/Swiss-Prot genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

71
id 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 Pancreatic Agenesis and Congenital Heart Defects:

6
id 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.1448_1455delTGAAAAAA (p.Met483Argfs) deletion Pathogenic rs587776872 GRCh38 Chromosome 18, 22182776: 22182783
3 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh37 Chromosome 18, 19761477: 19761477
4 GATA6 NM_005257.5(GATA6): c.1367G> A (p.Arg456His) single nucleotide variant Pathogenic rs387906819 GRCh37 Chromosome 18, 19761478: 19761478
5 GATA6 NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
6 GATA6 NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs387906820 GRCh37 Chromosome 18, 19761510: 19761510
7 GATA6 NM_005257.5(GATA6): c.1504_1505delAA (p.Lys502Aspfs) deletion Pathogenic rs587776936 GRCh38 Chromosome 18, 22182832: 22182833
8 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
9 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
10 GATA6 NM_005257.5(GATA6): c.1087C> T (p.Gln363Ter) single nucleotide variant Pathogenic rs797045593 GRCh37 Chromosome 18, 19752192: 19752192

Expression for Pancreatic Agenesis and Congenital Heart Defects

Search GEO for disease gene expression data for Pancreatic Agenesis and Congenital Heart Defects.

Pathways for Pancreatic Agenesis and Congenital Heart Defects

GO Terms for Pancreatic Agenesis and Congenital Heart Defects

Sources for Pancreatic Agenesis and Congenital Heart Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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