MCID: PNC092
MIFTS: 23

Pancreatic Agenesis and Congenital Heart Defects malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Pancreatic Agenesis and Congenital Heart Defects

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48OMIM, 34MalaCards
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MalaCards: 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:48 600001

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
63UMLS, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
pancreatic hypoplasia - diabetes - congenital heart disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

pancreatic agenesis and congenital heart defects 21 23 48
pancreatic hypoplasia - diabetes - congenital heart disease 50
yorifuji okuno syndrome 63
yorifuji-okuno syndrome 50


External Ids:

OMIM48 600001
UMLS via Orphanet64 C2931296

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

600001

Clinical features from OMIM:

600001

Symptoms:

50
  • stillbirth/neonatal death

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Pancreatic Agenesis and Congenital Heart Defects

Drug clinical trials:

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Search NIH Clinical Center for Pancreatic Agenesis and Congenital Heart Defects

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Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

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21GeneTests, 23GTR
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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 Defects21 GATA6
2 Pancreatic Agenesis and Congenital Heart Disease23

Anatomical Context for Pancreatic Agenesis and Congenital Heart Defects

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34MalaCards
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MalaCards organs/tissues related to Pancreatic Agenesis and Congenital Heart Defects:

34
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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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

65
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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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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
  • Antibodies

Sources for Pancreatic Agenesis and Congenital Heart Defects

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet