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:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Pancreatic Agenesis:

Name: Pancreatic Agenesis 8 9 42
Pancreatic Agenesis, Congenital 42 22 61
Congenital Pancreatic Agenesis 42 48
 
Partial Pancreatic Agenesis 8 48
Partial Agenesis of the Pancreas 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology8 DOID:0050877
Orphanet48 2805
ICD10 via Orphanet26 Q45.0

Summaries for Pancreatic Agenesis

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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 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:8 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:

 48
  • 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, INS, PDX1, GATA6
3MP:00028738.4INS, PTF1A, PDX1, GATA6
4MP:00030128.1ABCC8, KCNJ11, INS, PTF1A, PDX1
5MP:00053708.0INS, PTF1A, PDX1, GATA6, GCK
6MP:00053787.4KCNJ11, INS, PTF1A, PDX1, GATA6, GCK
7MP:00053797.4GCK, PDX1, PTF1A, INS, KCNJ11, ABCC8
8MP:00107687.4KCNJ11, INS, PTF1A, PDX1, GATA6, GCK
9MP:00053766.9ABCC8, KCNJ11, INS, PTF1A, PDX1, GATA6

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:

5
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
39.3ABCC8, KCNJ11
4
Show member pathways
9.3KCNJ11, ABCC8
5
Show member pathways
9.3KCNJ11, ABCC8
6
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
9.1GCK, INS
7
Show member pathways
9.1GCK, INS
8
Show member pathways
8.8ABCC8, KCNJ11, INS
9
Show member pathways
8.3INS, PTF1A, PDX1, GCK
10
Show member pathways
8.3GCK, PDX1, PTF1A, INS
11
Show member pathways
8.0ABCC8, KCNJ11, INS, GCK
12
Show member pathways
7.6ABCC8, KCNJ11, INS, PDX1, GCK
13
Show member pathways
7.6ABCC8, KCNJ11, INS, PDX1, GCK
147.6GCK, PDX1, INS, KCNJ11, 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
1nicotinamide44 1110.8PDX1, INS
2dehydroepiandrosterone sulfate449.7GATA6, INS
3cibenzoline449.7KCNJ11, ABCC8
4meglitinide449.7INS, ABCC8
5mitiglinide44 1110.7ABCC8, INS
6nicorandil44 2810.7ABCC8, KCNJ11
7mgadp449.7KCNJ11, ABCC8
8glipizide44 50 1111.7INS, ABCC8
9chlorpropamide44 50 1111.7INS, ABCC8
10cromakalim44 2810.7KCNJ11, ABCC8
11minoxidil44 28 1111.7KCNJ11, ABCC8
12nateglinide44 50 1111.6ABCC8, INS
13proglucagon449.6PDX1, GCK
14chromium picolinate449.5GCK, INS
15pip2449.4KCNJ11, ABCC8
16aicar44 24 1111.4GCK, INS
172-deoxyglucose44 1110.3GCK, INS
18repaglinide50 44 1111.2INS, ABCC8, KCNJ11
19gliclazide44 50 1111.2KCNJ11, ABCC8, INS
20glimepiride44 50 1111.2KCNJ11, ABCC8, INS
21glibenclamide44 28 50 6012.2KCNJ11, INS, ABCC8
22preproinsulin449.2PDX1, GCK, INS
23i-app449.2INS, GCK, PDX1
24incretin449.2GCK, PDX1, INS
25streptozotocin449.2INS, GCK, PDX1
26carbohydrates448.8INS, GCK
27glycogen44 249.8ABCC8, INS, GCK
28potassium44 24 1110.8GCK, KCNJ11, ABCC8
29fatty acid448.7ABCC8, GCK, INS
30leucine448.7GCK, ABCC8, KCNJ11
31c-peptide448.7KCNJ11, INS, PDX1, GCK
32magnesium44 24 1110.5GCK, KCNJ11, ABCC8
33Adenosine triphosphate24 119.5GCK, KCNJ11, ABCC8
34diazoxide44 60 28 1111.4ABCC8, KCNJ11, INS, GCK
35tolbutamide44 28 50 1111.4GCK, INS, KCNJ11, ABCC8
36metformin44 50 1110.4GCK, INS, KCNJ11, ABCC8
37adp44 28 2410.4ABCC8, KCNJ11, GCK
38cholesterol44 28 24 1111.4INS, GATA6, GCK, ABCC8
39arginine448.3INS, KCNJ11, ABCC8, GCK
40glutamate448.3GCK, KCNJ11, INS, ABCC8
41serine448.2GCK, PDX1, INS, ABCC8
42sulfonylurea448.1ABCC8, GCK, PDX1, INS, KCNJ11
43katp448.0GCK, ABCC8, KCNJ11, INS, PDX1
44glucose448.0ABCC8, 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:00033099.9GATA6, PDX1
2exocrine pancreas developmentGO:00310179.9PTF1A, PDX1
3liver developmentGO:00018899.6GATA6, PDX1
4detection of glucoseGO:00515949.6GCK, PDX1
5negative regulation of gluconeogenesisGO:00457219.4INS, GCK
6positive regulation of insulin secretionGO:00320249.3PDX1, GCK
7potassium ion transmembrane transportGO:00718059.3KCNJ11, ABCC8
8positive regulation of glycolytic processGO:00458219.3GCK, INS
9glucose metabolic processGO:00060069.3PDX1, INS, KCNJ11
10positive regulation of glycogen biosynthetic processGO:00457259.3INS, GCK
11response to drugGO:00424939.2GATA6, PDX1, KCNJ11
12energy reserve metabolic processGO:00061129.1ABCC8, KCNJ11, INS
13glucose homeostasisGO:00425939.0INS, PDX1, GCK
14glucose transportGO:00157588.8GCK, INS
15endocrine pancreas developmentGO:00310188.7GCK, PDX1, PTF1A, INS
16regulation of insulin secretionGO:00507968.3ABCC8, KCNJ11, INS, GCK
17small molecule metabolic processGO:00442817.9ABCC8, KCNJ11, INS, GCK

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

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

Sources for Pancreatic Agenesis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet