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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Sources:
47OMIM, 33MalaCards
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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:47 600001

Aliases & Classifications for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
62UMLS, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 63UMLS 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):

49
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 20 22 47
pancreatic hypoplasia - diabetes - congenital heart disease 49
yorifuji okuno syndrome 62
yorifuji-okuno syndrome 49


External Ids:

OMIM47 600001
UMLS via Orphanet63 C2931296

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

600001

Clinical features from OMIM:

600001

Symptoms:

49
  • stillbirth/neonatal death

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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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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52PubMed
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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:
64UniProtKB/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:

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:

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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet