MCID: PNC092
MIFTS: 27

Pancreatic Agenesis and Congenital Heart Defects malady

Genetic diseases (common), Endocrine diseases categories

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 24 67
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
Heart Defects, Congenital, and Other Congenital Anomalies 67
Hdca 67


Classifications:



External Ids:

OMIM49 600001
MedGen34 C1838780

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 pachd, is related to yorifuji okuno syndrome and pancreatic agenesis, and has symptoms including inguinal hernia, ureteral duplication and microcephaly. 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 syndrome10.5
2pancreatic agenesis10.3
3pancreatitis10.3

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 26)
id Description Frequency HPO Source Accession
1 inguinal hernia rare (5%) HP:0000023
2 ureteral duplication rare (5%) HP:0000073
3 microcephaly rare (5%) HP:0000252
4 congenital diaphragmatic hernia rare (5%) HP:0000776
5 single umbilical artery rare (5%) HP:0001195
6 seizures rare (5%) HP:0001250
7 umbilical hernia rare (5%) HP:0001537
8 intestinal malrotation rare (5%) HP:0002566
9 microcolon rare (5%) HP:0004388
10 biliary atresia rare (5%) HP:0005912
11 autosomal dominant inheritance HP:0000006
12 diabetes mellitus HP:0000819
13 global developmental delay HP:0001263
14 failure to thrive HP:0001508
15 intrauterine growth retardation HP:0001511
16 tetralogy of fallot HP:0001636
17 pulmonic stenosis HP:0001642
18 patent ductus arteriosus HP:0001643
19 patent foramen ovale HP:0001655
20 truncus arteriosus HP:0001660
21 transposition of the great arteries HP:0001669
22 pancreatic hypoplasia HP:0002594
23 hyperglycemia HP:0003074
24 glycosuria HP:0003076
25 interrupted aortic arch HP:0011611
26 perimembranous ventricular septal defect HP:0011682

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
2 Pancreatic Agenesis and Congenital Heart Disease24

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