MCID: PNC045
MIFTS: 49

Pancreatic Agenesis malady

Genetic diseases, Rare diseases, Fetal diseases, Endocrine diseases categories

Aliases & Classifications for Pancreatic Agenesis

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Sources:
9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Pancreatic Agenesis, Aliases & Descriptions:

Name: Pancreatic Agenesis 9 10 41
Pancreatic Agenesis, Congenital 41 22 60
Congenital Pancreatic Agenesis 41 47
 
Partial Pancreatic Agenesis 9 47
Partial Agenesis of the Pancreas 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050877
Orphanet47 2805
ICD10 via Orphanet26 Q45.0

Summaries for Pancreatic Agenesis

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NIH Rare Diseases:41 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 based summary: Pancreatic Agenesis, also known as pancreatic agenesis, congenital, is related to neonatal diabetes mellitus and obesity, and has symptoms including intrauterine growth retardation, abnormality of the pancreas and maternal diabetes. 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, heart and kidney, 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.

Related Diseases for Pancreatic Agenesis

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Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 2 Pancreatic Agenesis 1

Diseases related to Pancreatic Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus29.6ABCC8, KCNJ11, PDX1, INS, GCK
2obesity29.2ABCC8, GCK, INS, KCNJ11
3pancreatitis10.7
4pancreatic agenesis and congenital heart defects10.4
5agenesis of the dorsal pancreas10.3
6pancreatic agenesis 210.2
7pancreatic agenesis 110.2
8hypercholesterolemia, familial10.1PDX1, INS
9hyperinsulinemic hypoglycemia, familial, 210.0ABCC8, INS
10portal hypertension10.0
11gastroduodenitis10.0
12congenital diaphragmatic hernia10.0
13congenital heart disease10.0
14pervasive developmental disorder10.0
15renal dysplasia10.0
16polycystic ovary syndrome9.9INS, GATA6
17hyperuricemia9.9GCK, INS
18diabetes mellitus, insulin-dependent9.9INS, GCK
19glucose intolerance9.8GCK, PDX1, INS
20cystic fibrosis9.8KCNJ11, ABCC8, INS
21diabetes mellitus, permanent neonatal9.7ABCC8, INS, GCK
22hyperammonemia multi-gene panels9.7ABCC8, KCNJ11, GCK
23metabolic syndrome x9.7ABCC8, GCK, INS
24maturity-onset diabetes of the young9.6PDX1, INS, GCK, KCNJ11
25diabetes mellitus, noninsulin-dependent9.6GCK, INS, ABCC8
26hyperinsulinemic hypoglycemia9.5INS, ABCC8, KCNJ11, GCK
27hyperinsulinism9.5ABCC8, KCNJ11, INS, GCK
28mody, type ii9.5INS, ABCC8, KCNJ11, GCK
29hypoglycemia9.5ABCC8, GCK, KCNJ11, INS
30insulinoma9.4PDX1, KCNJ11, ABCC8, INS, GCK
31hyperglycemia9.3GCK, ABCC8, KCNJ11, INS, PDX1

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



Diseases related to pancreatic agenesis

Symptoms for Pancreatic Agenesis

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Symptoms:

 47
  • 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

HPO human phenotypes related to Pancreatic Agenesis:

id Description Frequency HPO Source Accession
1 intrauterine growth retardation hallmark (90%) HP:0001511
2 abnormality of the pancreas hallmark (90%) HP:0001732
3 maternal diabetes hallmark (90%) HP:0009800
4 type i diabetes mellitus hallmark (90%) HP:0100651

Drugs & Therapeutics for Pancreatic Agenesis

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Drug clinical trials:

Search ClinicalTrials for Pancreatic Agenesis

Search NIH Clinical Center 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:

31
Pancreas, Heart, Kidney, Liver, Uterus

Animal Models for Pancreatic Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Pancreatic Agenesis:

35
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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Articles related to Pancreatic Agenesis:

(show all 29)
idTitleAuthorsYear
1
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. (25706805)
2015
2
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. (25791554)
2015
3
MR in complete dorsal pancreatic agenesis: Case report and review of literature. (25024525)
2014
4
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (24212882)
2014
5
A novel mutation in GATA6 causes pancreatic agenesis. (24433315)
2014
6
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (24382792)
2014
7
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. (25584257)
2014
8
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. (23223019)
2013
9
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
10
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. (24147249)
2013
11
GATA6 haploinsufficiency causes pancreatic agenesis in humans. (22158542)
2012
12
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. (22806356)
2012
13
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. (22270042)
2012
14
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. (21488951)
2011
15
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
16
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
17
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
18
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
19
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
20
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
21
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
22
Dorsal pancreatic agenesis. (17625298)
2007
23
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
24
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
25
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. (11193482)
2000
26
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (8988180)
1997
27
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
28
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
29
Long-term survival in a case of functional pancreatic agenesis. (7000995)
1980

Variations for Pancreatic Agenesis

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Clinvar genetic disease variations for Pancreatic Agenesis:

6
id Gene Variation 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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Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for genes affiliated with Pancreatic Agenesis

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Pathways related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTF1A, GATA6
29.3KCNJ11, ABCC8
39.3KCNJ11, ABCC8
4
Show member pathways
9.3ABCC8, KCNJ11
5
Show member pathways
9.3ABCC8, KCNJ11
6
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.1INS, GCK
7
Show member pathways
9.1INS, GCK
8
Show member pathways
8.8ABCC8, KCNJ11, INS
9
Show member pathways
8.3PDX1, GCK, PTF1A, INS
10
Show member pathways
8.3PDX1, PTF1A, INS, GCK
11
Show member pathways
8.0INS, KCNJ11, ABCC8, GCK
12
Show member pathways
7.6ABCC8, GCK, PDX1, INS, KCNJ11
137.6GCK, PDX1, INS, KCNJ11, ABCC8
14
Show member pathways
7.6KCNJ11, GCK, PDX1, INS, ABCC8

Compounds for genes affiliated with Pancreatic Agenesis

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Compounds related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1nicotinamide43 1210.8PDX1, INS
2dehydroepiandrosterone sulfate439.7GATA6, INS
3cibenzoline439.7KCNJ11, ABCC8
4meglitinide439.7INS, ABCC8
5mitiglinide43 1210.7ABCC8, INS
6nicorandil43 2810.7ABCC8, KCNJ11
7mgadp439.7KCNJ11, ABCC8
8glipizide43 49 1211.7INS, ABCC8
9chlorpropamide43 49 1211.7INS, ABCC8
10cromakalim43 2810.7KCNJ11, ABCC8
11minoxidil43 28 1211.7KCNJ11, ABCC8
12nateglinide43 49 1211.6ABCC8, INS
13proglucagon439.6PDX1, GCK
14chromium picolinate439.5GCK, INS
15pip2439.4KCNJ11, ABCC8
16aicar43 24 1211.4GCK, INS
172-deoxyglucose43 1210.3GCK, INS
18repaglinide49 43 1211.2INS, ABCC8, KCNJ11
19gliclazide43 49 1211.2KCNJ11, ABCC8, INS
20glimepiride43 49 1211.2KCNJ11, ABCC8, INS
21glibenclamide43 28 49 5912.2KCNJ11, INS, ABCC8
22preproinsulin439.2PDX1, GCK, INS
23i-app439.2INS, GCK, PDX1
24incretin439.2GCK, PDX1, INS
25streptozotocin439.2INS, GCK, PDX1
26carbohydrates438.8INS, GCK
27glycogen43 249.8ABCC8, INS, GCK
28potassium43 24 1210.8GCK, KCNJ11, ABCC8
29fatty acid438.7ABCC8, GCK, INS
30leucine438.7GCK, ABCC8, KCNJ11
31c-peptide438.7KCNJ11, INS, PDX1, GCK
32magnesium43 24 1210.5GCK, KCNJ11, ABCC8
33Adenosine triphosphate24 129.5GCK, KCNJ11, ABCC8
34diazoxide43 59 28 1211.4ABCC8, KCNJ11, INS, GCK
35tolbutamide43 28 49 1211.4GCK, INS, KCNJ11, ABCC8
36metformin43 49 1210.4GCK, INS, KCNJ11, ABCC8
37adp43 28 2410.4ABCC8, KCNJ11, GCK
38cholesterol43 28 24 1211.4INS, GATA6, GCK, ABCC8
39arginine438.3INS, KCNJ11, ABCC8, GCK
40glutamate438.3GCK, KCNJ11, INS, ABCC8
41serine438.2GCK, PDX1, INS, ABCC8
42sulfonylurea438.1ABCC8, GCK, PDX1, INS, KCNJ11
43katp438.0GCK, ABCC8, KCNJ11, INS, PDX1
44glucose438.0ABCC8, KCNJ11, INS, PDX1, GCK

GO Terms for genes affiliated with Pancreatic Agenesis

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Cellular components related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.3KCNJ11, ABCC8

Biological processes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1type B pancreatic cell differentiationGO:00033099.9PDX1, GATA6
2exocrine pancreas developmentGO:00310179.9PDX1, PTF1A
3liver developmentGO:00018899.6GATA6, PDX1
4detection of glucoseGO:00515949.6PDX1, GCK
5positive regulation of insulin secretionGO:00320249.3PDX1, GCK
6potassium ion transmembrane transportGO:00718059.3KCNJ11, ABCC8
7negative regulation of gluconeogenesisGO:00457219.3INS, GCK
8positive regulation of glycolytic processGO:00458219.3GCK, INS
9glucose metabolic processGO:00060069.3INS, PDX1, KCNJ11
10positive regulation of glycogen biosynthetic processGO:00457259.3INS, GCK
11response to drugGO:00424939.2KCNJ11, PDX1, GATA6
12energy reserve metabolic processGO:00061129.1KCNJ11, INS, ABCC8
13glucose homeostasisGO:00425939.0INS, GCK, PDX1
14glucose transportGO:00157588.8GCK, INS
15endocrine pancreas developmentGO:00310188.7GCK, PTF1A, PDX1, INS
16regulation of insulin secretionGO:00507968.3ABCC8, INS, GCK, KCNJ11
17small molecule metabolic processGO:00442817.9GCK, INS, KCNJ11, ABCC8

Molecular functions related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.3KCNJ11, ABCC8

Products for genes affiliated with Pancreatic Agenesis

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Sources for Pancreatic Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet