MCID: PNC045
MIFTS: 44

Pancreatic Agenesis malady

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

Aliases & Classifications for Pancreatic Agenesis

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Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Pancreatic Agenesis:

Name: Pancreatic Agenesis 10 11 45 12
Pancreatic Agenesis, Congenital 45 24 65
Congenital Pancreatic Agenesis 45 51
 
Partial Pancreatic Agenesis 10 51
Partial Agenesis of the Pancreas 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
congenital pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0050877
Orphanet51 2805
ICD10 via Orphanet28 Q45.0

Summaries for Pancreatic Agenesis

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NIH Rare Diseases:45 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 pancreatitis and pancreatic agenesis and congenital heart defects, 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 Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include pancreas, heart and uterus, and related mouse phenotypes are liver/biliary system and no phenotypic analysis.

Disease Ontology:10 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis10.7
2pancreatic agenesis and congenital heart defects10.5
3pancreatic agenesis 210.4
4pancreatic agenesis 110.4
5neonatal diabetes mellitus10.4
6agenesis of the dorsal pancreas10.1
7hypoglycemia of infancy, leucine-sensitive10.1ABCC8, KCNJ11
8hyperinsulinemic hypoglycemia, familial, 110.1ABCC8, KCNJ11
9diabetes mellitus, transient neonatal 210.1ABCC8, KCNJ11
10familial nephrotic syndrome10.0PDX1, PTF1A
11cardiovascular organ benign neoplasm10.0ABCC8, KCNJ11
12fanconi-bickel syndrome10.0ABCC8, INS
13obesity10.0
14congenital diaphragmatic hernia10.0
15portal hypertension10.0
16gastroduodenitis10.0
17congenital heart disease10.0
18pervasive developmental disorder10.0
19renal dysplasia10.0
20trichodysplasia - amelogenesis imperfecta9.9ABCC8, INS, KCNJ11
21hyperinsulinemic hypoglycemia, familial, 29.9ABCC8, INS, KCNJ11
22acute insulin response9.9ABCC8, INS, KCNJ11
23atypical autism9.9ABCC8, GCK, KCNJ11
24pancreatic colloid cystadenocarcinoma9.9ABCC8, KCNJ11
25fallopian tube adenocarcinoma9.9ABCC8, GCK, KCNJ11
26endodermal sinus tumor9.9ABCC8, GCK, KCNJ11
27diphtheritic peritonitis9.8ABCC8, GCK, KCNJ11
28diabetes mellitus, transient neonatal, 19.8ABCC8, INS, KCNJ11, PTF1A
29aryepiglottic fold cancer9.8ABCC8, GCK, KCNJ11
30merrf syndrome9.8GCK, INS, KCNJ11
31intermittent claudication9.7ABCC8, GCK, INS, PDX1
32thoracic aortic aneurysm9.7ABCC8, GCK, INS, KCNJ11
33monomelic amyotrophy9.6ABCC8, GCK, INS, KCNJ11, PDX1
34diabetes mellitus, permanent neonatal9.6ABCC8, GCK, INS, KCNJ11, PDX1
35hyperimmunoglobulin syndrome9.5ABCC8, GCK, INS, KCNJ11, PDX1
36glucosephosphate dehydrogenase deficiency9.5ABCC8, GCK, INS, KCNJ11, PDX1
37acquired polycythemia9.5ABCC8, GCK, INS, KCNJ11, PDX1
38diabetes mellitus, noninsulin-dependent9.5ABCC8, GCK, INS, KCNJ11, PDX1
39diabetes mellitus, insulin-dependent9.5ABCC8, GCK, INS, KCNJ11, PDX1
40neonatal jaundice9.4ABCC8, GCK, INS, KCNJ11, PDX1, PTF1A
41adult spinal muscular atrophy9.3ABCC8, GCK, INS, KCNJ11, PDX1, RFX6
42caroli disease8.7ABCC8, GATA6, GCK, HMX1, INS, KCNJ11

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:

 51
  • 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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Interventional clinical trials:

Search ClinicalTrials, 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, Congenital24

Anatomical Context for Pancreatic Agenesis

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MalaCards organs/tissues related to Pancreatic Agenesis:

33
Pancreas, Heart, Uterus, Liver, Kidney

Animal Models for Pancreatic Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Pancreatic Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6GATA6, GCK, INS, PDX1, PTF1A
2MP:00030127.9ABCC8, HMX1, INS, KCNJ11, PDX1, PTF1A
3MP:00053797.3ABCC8, GCK, INS, KCNJ11, PDX1, PTF1A
4MP:00053767.1ABCC8, GATA6, GCK, INS, KCNJ11, PDX1
5MP:00107686.6GATA6, GCK, HMX1, INS, KCNJ11, PDX1
6MP:00053786.5GATA6, GCK, HMX1, INS, KCNJ11, PDX1

Publications for Pancreatic Agenesis

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Articles related to Pancreatic Agenesis:

(show all 30)
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
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. (23006325)
2012
14
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. (22270042)
2012
15
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. (21488951)
2011
16
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
17
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
18
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
19
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
20
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
21
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
22
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
23
Dorsal pancreatic agenesis. (17625298)
2007
24
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
25
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
26
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. (11193482)
2000
27
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (8988180)
1997
28
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
29
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
30
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.533A> G (p.Glu178Gly)single nucleotide variantPathogenicrs387906777GRCh37Chr 13, 28498519: 28498519
2PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic
3PDX1NM_000209.3(PDX1): c.492G> T (p.Glu164Asp)single nucleotide variantPathogenic, risk factorrs80356661GRCh37Chr 13, 28498478: 28498478
4PDX1NM_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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GATA6, PTF1A
29.5ABCC8, KCNJ11
39.5ABCC8, KCNJ11
4
Show member pathways
9.1GCK, INS, PDX1
5
Show member pathways
9.1ABCC8, INS, KCNJ11
6
Show member pathways
8.3GCK, INS, PDX1, PTF1A, RFX6
7
Show member pathways
8.1ABCC8, GCK, INS, KCNJ11, PDX1
8
Show member pathways
8.1ABCC8, GCK, INS, KCNJ11, PDX1
98.1ABCC8, GCK, INS, KCNJ11, PDX1

GO Terms for genes affiliated with Pancreatic Agenesis

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1exocrine pancreas developmentGO:003101710.5PDX1, PTF1A
2pancreatic A cell differentiationGO:000331010.3GATA6, RFX6
3detection of glucoseGO:005159410.2GCK, PDX1
4positive regulation of glycogen biosynthetic processGO:004572510.1GCK, INS
5positive regulation of insulin secretion involved in cellular response to glucose stimulusGO:003577410.1PDX1, RFX6
6pancreas developmentGO:003101610.1GATA6, PDX1, PTF1A
7negative regulation of insulin secretionGO:004667610.1ABCC8, KCNJ11
8glucose transportGO:001575810.1GCK, INS
9negative regulation of gluconeogenesisGO:00457219.9GCK, INS
10type B pancreatic cell differentiationGO:00033099.9GATA6, PDX1, RFX6
11energy reserve metabolic processGO:00061129.6ABCC8, INS, KCNJ11
12positive regulation of insulin secretionGO:00320249.6GCK, PDX1
13positive regulation of transcription, DNA-templatedGO:00458939.2GATA6, PDX1, PTF1A, RFX6
14glucose metabolic processGO:00060069.0GCK, INS, KCNJ11, PDX1
15response to drugGO:00424939.0ABCC8, GATA6, KCNJ11, PDX1
16endocrine pancreas developmentGO:00310188.9GCK, INS, PDX1, PTF1A, RFX6
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.9GATA6, PDX1, PTF1A, RFX6
18glucose homeostasisGO:00425938.8GCK, INS, PDX1, RFX6
19transcription from RNA polymerase II promoterGO:00063668.6GATA6, PDX1, PTF1A, RFX6
20regulation of insulin secretionGO:00507968.4ABCC8, GCK, INS, KCNJ11, RFX6
21regulation of transcription, DNA-templatedGO:00063557.6GATA6, HMX1, INS, PDX1, PTF1A, RFX6

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.1GATA6, PDX1
2sequence-specific DNA bindingGO:00435658.6GATA6, HMX1, PDX1, PTF1A
3RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009778.5GATA6, HMX1, RFX6

Sources for Pancreatic Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet