MCID: PNC092
MIFTS: 23

Pancreatic Agenesis and Congenital Heart Defects malady

Endocrine diseases category

Summaries for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
46OMIM, 32MalaCards
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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 congenital heart defect, 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:
60UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

pancreatic agenesis and congenital heart defects 20 22 46
pancreatic hypoplasia - diabetes - congenital heart disease 48
yorifuji okuno syndrome 60
yorifuji-okuno syndrome 48


External Ids:

OMIM46 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
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 syndrome10.6
2congenital heart defect10.3
3pancreatitis10.3

Clinical Features for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

600001

Clinical synopsis from OMIM:

600001

Symptoms:

48
  • stillbirth/neonatal death

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

Search CenterWatch for Pancreatic Agenesis and Congenital Heart Defects

Genetic Tests for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
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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Sources:
32MalaCards
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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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Genetic Variations for Pancreatic Agenesis and Congenital Heart Defects

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

62
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

Expression for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet