MCID: PNC092
MIFTS: 24

Pancreatic Agenesis and Congenital Heart Defects malady

Categories: Genetic diseases (common), Endocrine diseases

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

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Aliases & Descriptions for Pancreatic Agenesis and Congenital Heart Defects:

Name: Pancreatic Agenesis and Congenital Heart Defects 49 11 22 67 24 65
Heart Defects, Congenital, and Other Congenital Anomalies 67 65
Pachd 22 67
 
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 22
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 67
Hdca 67

Characteristics:

HPO:

61
pancreatic agenesis and congenital heart defects:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600001
MedGen34 C1838780
UMLS65 C3888085, C4012454

Summaries for Pancreatic Agenesis and Congenital Heart Defects

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UniProtKB/Swiss-Prot:67 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 biliary atresia, microcolon and intestinal malrotation. An important gene associated with Pancreatic Agenesis and Congenital Heart Defects is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart.

Description from OMIM:49 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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

idRelated DiseaseScoreTop Affiliating Genes
1yorifuji okuno syndrome11.4
2pancreatic agenesis10.0
3pancreatitis10.0

Symptoms for Pancreatic Agenesis and Congenital Heart Defects

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Symptoms by clinical synopsis from OMIM:

600001

Clinical features from OMIM:

600001

HPO human phenotypes related to Pancreatic Agenesis and Congenital Heart Defects:

(show all 25)
id Description Frequency HPO Source Accession
1 biliary atresia rare (5%) HP:0005912
2 microcolon rare (5%) HP:0004388
3 intestinal malrotation rare (5%) HP:0002566
4 umbilical hernia rare (5%) HP:0001537
5 seizures rare (5%) HP:0001250
6 single umbilical artery rare (5%) HP:0001195
7 congenital diaphragmatic hernia rare (5%) HP:0000776
8 microcephaly rare (5%) HP:0000252
9 ureteral duplication rare (5%) HP:0000073
10 inguinal hernia rare (5%) HP:0000023
11 perimembranous ventricular septal defect HP:0011682
12 interrupted aortic arch HP:0011611
13 glycosuria HP:0003076
14 hyperglycemia HP:0003074
15 pancreatic hypoplasia HP:0002594
16 transposition of the great arteries HP:0001669
17 truncus arteriosus HP:0001660
18 patent foramen ovale HP:0001655
19 patent ductus arteriosus HP:0001643
20 pulmonic stenosis HP:0001642
21 tetralogy of fallot HP:0001636
22 intrauterine growth retardation HP:0001511
23 failure to thrive HP:0001508
24 global developmental delay HP:0001263
25 diabetes mellitus HP:0000819

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pancreatic Agenesis and Congenital Heart Defects

Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

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Genetic tests related to Pancreatic Agenesis and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Defects22 GATA6

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

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

33
Heart

Animal Models for Pancreatic Agenesis and Congenital Heart Defects or affiliated genes

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Publications for Pancreatic Agenesis and Congenital Heart Defects

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Articles related to Pancreatic Agenesis and Congenital Heart Defects:

idTitleAuthorsYear
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

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

67
id Symbol AA change Variation ID SNP ID
1GATA6p.Thr452AlaVAR_067384
2GATA6p.Arg456CysVAR_067385
3GATA6p.Arg456HisVAR_067386
4GATA6p.Asn466AspVAR_067387
5GATA6p.Ala467ThrVAR_067389
6GATA6p.Lys473GlnVAR_067390

Clinvar genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GATA6NM_005257.5(GATA6): c.712G> T (p.Gly238Ter)single nucleotide variantPathogenicrs587777710GRCh37Chr 18, 19751817: 19751817
2GATA6NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs)deletionPathogenicrs587777711GRCh38Chr 18, 22172216: 22172216
3GATA6NM_005257.5(GATA6): c.1087C> T (p.Gln363Ter)single nucleotide variantPathogenicrs797045593GRCh37Chr 18, 19752192: 19752192
4GATA6NM_005257.5(GATA6): c.1354A> G (p.Thr452Ala)single nucleotide variantPathogenicrs387906817GRCh37Chr 18, 19761465: 19761465
5GATA6NM_005257.5(GATA6): c.1448_1455delTGAAAAAA (p.Met483Argfs)deletionPathogenicrs587776872GRCh38Chr 18, 22182776: 22182783
6GATA6NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys)single nucleotide variantPathogenicrs387906818GRCh37Chr 18, 19761477: 19761477
7GATA6NM_005257.5(GATA6): c.1367G> A (p.Arg456His)single nucleotide variantPathogenicrs387906819GRCh37Chr 18, 19761478: 19761478
8GATA6NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp)single nucleotide variantPathogenicrs387906813GRCh37Chr 18, 19761507: 19761507
9GATA6NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr)single nucleotide variantPathogenicrs387906820GRCh37Chr 18, 19761510: 19761510
10GATA6NM_005257.5(GATA6): c.1504_1505delAA (p.Lys502Aspfs)deletionPathogenicrs587776936GRCh38Chr 18, 22182832: 22182833

Expression for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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

Pathways for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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GO Terms for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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Sources for Pancreatic Agenesis and Congenital Heart Defects

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet