MCID: PNC092
MIFTS: 15

Pancreatic Agenesis and Congenital Heart Defects malady

Endocrine category

Summaries for Pancreatic Agenesis and Congenital Heart Defects

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

Sources:
61UMLS, 20GeneTests, 22GTR, 47OMIM, 49Orphanet
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Classifications:

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


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 61
yorifuji-okuno syndrome 49


External Ids:

OMIM47 600001

Related Diseases for Pancreatic Agenesis and Congenital Heart Defects

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
2pancreatic agenesis10.3

Clinical Features for Pancreatic Agenesis and Congenital Heart Defects

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

600001

Clinical synopsis from OMIM:

600001

Symptoms:

49
  • stillbirth/neonatal death

Drugs & Therapeutics for Pancreatic Agenesis and Congenital Heart Defects

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pancreatic Agenesis and Congenital Heart Defects

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

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

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Pancreatic Agenesis and Congenital Heart Defects

Genetic Variations for Pancreatic Agenesis and Congenital Heart Defects

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pancreatic Agenesis and Congenital Heart Defects:

63
id Symbol AA change Variation 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

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

Compounds for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

GO Terms for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

Products for genes affiliated with Pancreatic Agenesis and Congenital Heart Defects

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pancreatic Agenesis and Congenital Heart Defects

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet