MCID: PNC045
MIFTS: 57

Pancreatic Agenesis malady

Rare diseases, Fetal diseases, Endocrine diseases categories

Summaries for Pancreatic Agenesis

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 neonatal diabetes mellitus and 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 Notch-mediated HES/HEY network and Selected targets of HNF1. The compounds nicotinamide and dehydroepiandrosterone sulfate have been mentioned in the context of this disorder. Affiliated tissues include pancreas and heart, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:9 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

Description from OMIM:48 260370,167755

Aliases & Classifications for Pancreatic Agenesis

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 50Orphanet, 23GTR, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
partial pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pancreatic agenesis 9 10 44 48
pancreatic agenesis, congenital 44 23 63
partial pancreatic agenesis 9 50 48
congenital pancreatic agenesis 44 50
partial agenesis of the pancreas 50


External Ids:

Disease Ontology9 DOID:0050877
ICD10 via Orphanet27 Q45.0

Related Diseases for Pancreatic Agenesis

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pancreatic Agenesis:



Diseases related to pancreatic agenesis

Symptoms for Pancreatic Agenesis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

167755

Clinical features from OMIM:

260370,167755

Symptoms:

50
  • 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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23GTR
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Genetic tests related to Pancreatic Agenesis:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital23

Anatomical Context for Pancreatic Agenesis

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34MalaCards
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MalaCards organs/tissues related to Pancreatic Agenesis:

34
Pancreas, Heart

Animal Models for Pancreatic Agenesis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pancreatic Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6GATA6, PTF1A, INS, KCNJ11
2MP:00053698.5KCNJ11, PDX1, GATA6, INS
3MP:00028738.4PTF1A, PDX1, GATA6, INS
4MP:00030128.1ABCC8, PTF1A, KCNJ11, INS, PDX1
5MP:00053708.0PDX1, INS, PTF1A, GCK, GATA6
6MP:00053787.4KCNJ11, PDX1, GCK, GATA6, PTF1A, INS
7MP:00053797.4KCNJ11, ABCC8, INS, PTF1A, PDX1, GCK
8MP:00107687.4KCNJ11, INS, PTF1A, PDX1, GATA6, GCK
9MP:00053766.9GATA6, PDX1, PTF1A, ABCC8, INS, KCNJ11

Publications for Pancreatic Agenesis

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53PubMed
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Articles related to Pancreatic Agenesis:

(show all 26)
idTitleAuthorsYear
1
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (24212882)
2014
2
A novel mutation in GATA6 causes pancreatic agenesis. (24433315)
2014
3
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (24382792)
2014
4
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. (23223019)
2013
5
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
6
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. (24147249)
2013
7
GATA6 haploinsufficiency causes pancreatic agenesis in humans. (22158542)
2012
8
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. (22806356)
2012
9
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. (23006325)
2012
10
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. (22270042)
2012
11
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. (21488951)
2011
12
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. (20854389)
2010
13
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
14
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
15
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
16
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
17
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
18
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
19
Dorsal pancreatic agenesis. (17625298)
2007
20
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
21
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
22
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. (11193482)
2000
23
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (8988180)
1997
24
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
25
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
26
Long-term survival in a case of functional pancreatic agenesis. (7000995)
1980

Variations for Pancreatic Agenesis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pancreatic Agenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1PDX1NM_000209.3(PDX1): c.492G> T (p.Glu164Asp)single nucleotide variantPathogenic, risk factorrs80356661GRCh37Chr 13, 28498478: 28498478
2PDX1NM_000209.3(PDX1): c.532G> A (p.Glu178Lys)single nucleotide variantPathogenicrs80356662GRCh37Chr 13, 28498518: 28498518

Expression for genes affiliated with Pancreatic Agenesis

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB, 56Reactome, 31KEGG, 54QIAGEN
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Pathways related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTF1A, GATA6
29.6PDX1, INS
39.3KCNJ11, ABCC8
49.3ABCC8, KCNJ11
5
Show member pathways
9.3KCNJ11, ABCC8
6
Show member pathways
9.3KCNJ11, ABCC8
7
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1GCK, INS
8
Show member pathways
9.1GCK, INS
9
Show member pathways
8.8ABCC8, KCNJ11, INS
10
Show member pathways
8.3INS, PTF1A, PDX1, GCK
11
Show member pathways
8.3GCK, PDX1, PTF1A, INS
12
Show member pathways
8.0ABCC8, KCNJ11, INS, GCK
13
Show member pathways
7.6ABCC8, KCNJ11, INS, PDX1, GCK
14
Show member pathways
7.6ABCC8, KCNJ11, INS, PDX1, GCK
157.6GCK, PDX1, INS, KCNJ11, ABCC8

Compounds for genes affiliated with Pancreatic Agenesis

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1nicotinamide46 1210.8PDX1, INS
2dehydroepiandrosterone sulfate469.7GATA6, INS
3cibenzoline469.7KCNJ11, ABCC8
4meglitinide469.7INS, ABCC8
5mitiglinide46 1210.7ABCC8, INS
6nicorandil46 3010.7ABCC8, KCNJ11
7mgadp469.7KCNJ11, ABCC8
8glipizide46 52 1211.7INS, ABCC8
9chlorpropamide46 52 1211.7INS, ABCC8
10cromakalim46 3010.7KCNJ11, ABCC8
11minoxidil46 30 1211.7KCNJ11, ABCC8
12nateglinide46 52 1211.6ABCC8, INS
13proglucagon469.6PDX1, GCK
14chromium picolinate469.5GCK, INS
15pip2469.4KCNJ11, ABCC8
16aicar46 25 1211.4GCK, INS
172-deoxyglucose46 1210.3GCK, INS
18repaglinide52 46 1211.2INS, ABCC8, KCNJ11
19gliclazide46 52 1211.2KCNJ11, ABCC8, INS
20glimepiride46 52 1211.2KCNJ11, ABCC8, INS
21glibenclamide46 30 52 6212.2KCNJ11, INS, ABCC8
22preproinsulin469.2PDX1, GCK, INS
23i-app469.2INS, GCK, PDX1
24incretin469.2GCK, PDX1, INS
25streptozotocin469.2INS, GCK, PDX1
26carbohydrates468.8INS, GCK
27glycogen46 259.8ABCC8, INS, GCK
28potassium46 25 1210.8GCK, KCNJ11, ABCC8
29fatty acid468.7ABCC8, GCK, INS
30leucine468.7GCK, ABCC8, KCNJ11
31c-peptide468.7KCNJ11, INS, PDX1, GCK
32magnesium46 25 1210.5GCK, KCNJ11, ABCC8
33Adenosine triphosphate25 129.5GCK, KCNJ11, ABCC8
34diazoxide46 62 30 1211.4ABCC8, KCNJ11, INS, GCK
35tolbutamide46 30 52 1211.4GCK, INS, KCNJ11, ABCC8
36metformin46 52 1210.4GCK, INS, KCNJ11, ABCC8
37adp46 30 2510.4ABCC8, KCNJ11, GCK
38cholesterol46 30 25 1211.4INS, GATA6, GCK, ABCC8
39arginine468.3INS, KCNJ11, ABCC8, GCK
40glutamate468.3GCK, KCNJ11, INS, ABCC8
41serine468.2GCK, PDX1, INS, ABCC8
42sulfonylurea468.1ABCC8, GCK, PDX1, INS, KCNJ11
43katp468.0GCK, ABCC8, KCNJ11, INS, PDX1
44glucose468.0ABCC8, KCNJ11, INS, PDX1, GCK

GO Terms for genes affiliated with Pancreatic Agenesis

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17Gene Ontology
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Cellular components related to Pancreatic Agenesis according to GeneCards/GeneDecks:

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

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
3liver developmentGO:0018899.6GATA6, PDX1
4detection of glucoseGO:0515949.6GCK, PDX1
5negative regulation of gluconeogenesisGO:0457219.4INS, GCK
6positive regulation of insulin secretionGO:0320249.3PDX1, GCK
7potassium ion transmembrane transportGO:0718059.3KCNJ11, ABCC8
8positive regulation of glycolytic processGO:0458219.3GCK, INS
9glucose metabolic processGO:0060069.3PDX1, INS, KCNJ11
10positive regulation of glycogen biosynthetic processGO:0457259.3INS, GCK
11response to drugGO:0424939.2GATA6, PDX1, KCNJ11
12energy reserve metabolic processGO:0061129.1ABCC8, KCNJ11, INS
13glucose homeostasisGO:0425939.0INS, PDX1, GCK
14glucose transportGO:0157588.8GCK, INS
15endocrine pancreas developmentGO:0310188.7GCK, PDX1, PTF1A, INS
16regulation of insulin secretionGO:0507968.3ABCC8, KCNJ11, INS, GCK
17small molecule metabolic processGO:0442817.9ABCC8, KCNJ11, INS, GCK

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

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

Products for genes affiliated with Pancreatic Agenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pancreatic Agenesis

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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