MCID: PNC092
MIFTS: 23

Pancreatic Agenesis and Congenital Heart Defects malady

Genetic diseases, Endocrine diseases, Rare diseases categories
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Summaries for Pancreatic Agenesis and Congenital Heart Defects

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MalaCards based summary: Pancreatic Agenesis and Congenital Heart Defects, also known as pancreatic hypoplasia - diabetes - congenital heart disease, is related to yorifuji okuno syndrome and pancreatic agenesis, and has symptoms including stillbirth/neonatal death An important gene associated with Pancreatic Agenesis and Congenital Heart Defects is GATA6 (GATA binding protein 6). Affiliated tissues include heart.

Description from OMIM:46 600001

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
62UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 63UMLS via Orphanet
See all sources

Pancreatic Agenesis and Congenital Heart Defects, Aliases & Descriptions:

Name: Pancreatic Agenesis and Congenital Heart Defects 20 22 46
Pancreatic Hypoplasia - Diabetes - Congenital Heart Disease 48
 
Yorifuji Okuno Syndrome 62
Yorifuji-Okuno Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
pancreatic hypoplasia - diabetes - congenital heart disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 600001
UMLS via Orphanet63 C2931296

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1yorifuji okuno syndrome10.7
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

Symptoms:

48
  • stillbirth/neonatal death

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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Drug clinical trials:

Search ClinicalTrials for Pancreatic Agenesis and Congenital Heart Defects

Search 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 Defects20 GATA6
2 Pancreatic Agenesis and Congenital Heart Disease22

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

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

32
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:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1GATA6NM_005257.5(GATA6): c.1354A> G (p.Thr452Ala)single nucleotide variantPathogenicrs387906817GRCh37Chr 18, 19761465: 19761465
2GATA6GATA6, 8-BP DEL, NT1448deletionPathogenic
3GATA6NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys)single nucleotide variantPathogenicrs387906818GRCh37Chr 18, 19761477: 19761477
4GATA6NM_005257.5(GATA6): c.1367G> A (p.Arg456His)single nucleotide variantPathogenicrs387906819GRCh37Chr 18, 19761478: 19761478
5GATA6NM_005257.5(GATA6): c.1396A> G (p.Asn466Asp)single nucleotide variantPathogenicrs387906813GRCh37Chr 18, 19761507: 19761507
6GATA6NM_005257.5(GATA6): c.1399G> A (p.Ala467Thr)single nucleotide variantPathogenicrs387906820GRCh37Chr 18, 19761510: 19761510
7GATA6GATA6, 2-BP DEL, 1504AAdeletionPathogenic

Expression for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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Expression patterns in normal tissues for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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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Compounds 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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Products for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pancreatic Agenesis and Congenital Heart Defects

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet