Pancreatic Agenesis malady

Fetal diseases, Endocrine diseases categories

Summaries for Pancreatic Agenesis

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Pancreatic agenesis is a rare condition that occurs when the pancreas fails to develop before birth. the severity depends on how much functional pancreatic tissue is present. children with this condition usually have permanent neonatal diabetes mellitus due to a lack of insulin. pancreatic agenesis can also be associated with abnormalities in other parts of the body. mutations in the gata6, pdx1, and ptf1a genes have been found to cause pancreatic agenesis. last updated: 8/2/2012

MalaCards: Pancreatic Agenesis, also known as pancreatic agenesis, congenital, is related to pancreatitis and neonatal diabetes mellitus, and has symptoms including structural anomalies of the pancreas, insulin-dependent/type 1 diabetes and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Pancreatic Agenesis is PDX1 (pancreatic and duodenal homeobox 1), and among its related pathways are Regulation of gene expression in early pancreatic precursor cells and Notch-mediated HES/HEY network. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are muscle and no phenotypic analysis.

Description from OMIM:46 167755,260370

Aliases & Classifications for Pancreatic Agenesis

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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Endocrine diseases

Characteristics (Orphanet epidemiological data):

congenital pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy

Aliases & Descriptions:

pancreatic agenesis 42 46
pancreatic agenesis, congenital 42 22 60
congenital pancreatic agenesis 42 48
partial pancreatic agenesis 48 46
partial agenesis of the pancreas 48

External Ids:

ICD10 via Orphanet26 Q45.0

Related Diseases for Pancreatic Agenesis

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17GeneCards, 18GeneDecks
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Diseases related to Pancreatic Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
2neonatal diabetes mellitus30.4ABCC8, KCNJ11, GCK, PDX1, INS
3diabetes mellitus30.4KCNJ11, GCK, PDX1, INS, ABCC8
4permanent neonatal diabetes mellitus29.8GCK, INS, ABCC8
5obesity29.8ABCC8, INS, GCK, KCNJ11
6pancreatic agenesis and congenital heart defects10.2
7exocrine pancreatic insufficiency10.1
9beckwith-wiedemann syndrome10.0ABCC8
10pituitary adenoma10.0ABCC8
12essential hypertension10.0INS
13ischemia10.0ABCC8, GCK
14hyperinsulinemic hypoglycemia10.0INS, ABCC8
15polycystic ovary syndrome10.0INS, GATA6
16familial hyperinsulinism10.0KCNJ11, GCK, ABCC8
17adenoma10.0INS, GATA6
18type 1 diabetes10.0GCK, INS
19hyperammonemia multi-gene panels10.0ABCC8, GCK, KCNJ11
20insulin resistance10.0GCK, INS, ABCC8
21hyperuricemia10.0INS, GCK
22metabolic syndrome x10.0ABCC8, INS, GCK
23maturity-onset diabetes of the young10.0KCNJ11, GCK, PDX1, INS
24gestational diabetes10.0ABCC8, INS, GCK, KCNJ11
25hypoglycemia10.0ABCC8, INS, GCK, KCNJ11
26glucose intolerance10.0ABCC8, INS, GCK, KCNJ11
27hyperinsulinism10.0KCNJ11, GCK, INS, ABCC8
28insulinoma10.0KCNJ11, GCK, PDX1, INS, ABCC8
29type 2 diabetes mellitus10.0KCNJ11, GCK, PDX1, INS, ABCC8
30hyperglycemia10.0ABCC8, INS, PDX1, GCK, KCNJ11
31renal agenesis9.9
33congenital diaphragmatic hernia9.9
34congenital heart defect9.9
35pervasive developmental disorder9.9

Graphical network of the top 20 diseases related to Pancreatic Agenesis:

Diseases related to pancreatic agenesis

Clinical Features for Pancreatic Agenesis

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46OMIM, 48Orphanet
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Clinical features from OMIM:


Clinical synopsis from OMIM:



  • structural anomalies of the pancreas
  • insulin-dependent/type 1 diabetes
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • maternal diabetes

Drugs & Therapeutics for Pancreatic Agenesis

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

Search CenterWatch for Pancreatic Agenesis

Drug clinical trials:

Search ClinicalTrials for Pancreatic Agenesis

Search NIH Clinical Center for Pancreatic Agenesis

Search CenterWatch for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

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Genetic tests related to Pancreatic Agenesis:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital22

Anatomical Context for Pancreatic Agenesis

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MalaCards organs/tissues related to Pancreatic Agenesis:


Animal Models for Pancreatic Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Pancreatic Agenesis:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6INS, GATA6, PDX1, KCNJ11
2MP:00030128.0KCNJ11, PDX1, INS, ABCC8, PTF1A
3MP:00053708.0GCK, PDX1, GATA6, INS, PTF1A
4MP:00053797.4PTF1A, ABCC8, INS, PDX1, GCK, KCNJ11
5MP:00053787.3PTF1A, INS, GATA6, PDX1, GCK, KCNJ11
6MP:00107687.1PTF1A, KCNJ11, GCK, PDX1, GATA6, INS
7MP:00053766.9PTF1A, GCK, INS, GATA6, ABCC8, KCNJ11

Publications for Pancreatic Agenesis

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Genetic Variations for Pancreatic Agenesis

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Expression for genes affiliated with Pancreatic Agenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pancreatic Agenesis

Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for genes affiliated with Pancreatic Agenesis

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Pancreatic Agenesis

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1minoxidil44 28 1112.2ABCC8
2cibenzoline449.7KCNJ11, ABCC8
3meglitinide449.7ABCC8, INS
4mitiglinide44 1110.7INS, ABCC8
5nicorandil44 2810.7KCNJ11, ABCC8
6mgadp449.7KCNJ11, ABCC8
7glipizide44 1110.7ABCC8, INS
8chlorpropamide44 1110.7ABCC8, INS
9nicotinamide44 1110.6INS, PDX1
10cromakalim44 2810.6ABCC8, KCNJ11
11dehydroepiandrosterone sulfate449.6INS, GATA6
12nateglinide44 49 1111.6INS, ABCC8
13Glyburide119.6KCNJ11, ABCC8
14proglucagon449.6PDX1, GCK
15chromium picolinate449.5GCK, INS
16aicar44 11 2411.3INS, GCK
17repaglinide44 49 1111.2KCNJ11, ABCC8, INS
18glimepiride44 49 1111.2KCNJ11, ABCC8, INS
19gliclazide44 49 1111.2KCNJ11, ABCC8, INS
20glibenclamide44 28 49 5912.2KCNJ11, ABCC8, INS
21preproinsulin449.2GCK, INS, PDX1
22i-app449.2INS, PDX1, GCK
23incretin449.2INS, PDX1, GCK
24streptozotocin449.1GCK, INS, PDX1
25pip2449.0ABCC8, KCNJ11
262-deoxyglucose44 1110.0INS, GCK
27glycogen44 249.7ABCC8, INS, GCK
28potassium44 11 2410.7KCNJ11, ABCC8, GCK
29c-peptide448.6KCNJ11, GCK, INS, PDX1
30fatty acid448.5GCK, INS, ABCC8
31leucine448.5GCK, ABCC8, KCNJ11
32diazoxide44 59 28 1111.4ABCC8, GCK, INS, KCNJ11
33tolbutamide44 49 28 1111.4KCNJ11, GCK, INS, ABCC8
34metformin44 49 1110.4GCK, KCNJ11, INS, ABCC8
35cholesterol44 28 11 2411.3INS, GCK, GATA6, ABCC8
36arginine448.2KCNJ11, ABCC8, GCK, INS
37glutamate448.2KCNJ11, INS, GCK, ABCC8
38sulfonylurea448.0KCNJ11, GCK, PDX1, INS, ABCC8
39katp448.0PDX1, GCK, KCNJ11, INS, ABCC8
40glucose448.0INS, PDX1, GCK, KCNJ11, ABCC8

GO Terms for genes affiliated with Pancreatic Agenesis

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16Gene Ontology
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Cellular components related to Pancreatic Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.3ABCC8, KCNJ11

Biological processes related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1type B pancreatic cell differentiationGO:0033099.9GATA6, PDX1
2exocrine pancreas developmentGO:0310179.9PTF1A, PDX1
3detection of glucoseGO:0515949.6GCK, PDX1
4potassium ion transmembrane transportGO:0718059.4KCNJ11, ABCC8
5negative regulation of gluconeogenesisGO:0457219.4GCK, INS
6liver developmentGO:0018899.3GATA6, PDX1
7positive regulation of glycolysisGO:0458219.3INS, GCK
8positive regulation of insulin secretionGO:0320249.3PDX1, GCK
9positive regulation of glycogen biosynthetic processGO:0457259.3GCK, INS
10glucose metabolic processGO:0060069.3PDX1, INS, KCNJ11
11response to drugGO:0424939.2KCNJ11, PDX1, GATA6
12energy reserve metabolic processGO:0061129.1INS, ABCC8, KCNJ11
13glucose transportGO:0157589.0INS, GCK
14glucose homeostasisGO:0425939.0GCK, PDX1, INS
15endocrine pancreas developmentGO:0310188.7PTF1A, GCK, PDX1, INS
16regulation of insulin secretionGO:0507968.3ABCC8, GCK, KCNJ11, INS
17small molecule metabolic processGO:0442818.0ABCC8, INS, GCK, KCNJ11

Molecular functions related to Pancreatic Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3ABCC8, KCNJ11

Products for genes affiliated with Pancreatic Agenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pancreatic Agenesis

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet