MCID: PNC045
MIFTS: 57

Pancreatic Agenesis malady

Rare diseases, Fetal diseases, Endocrine diseases categories
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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 permanent 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 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:8 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

Descriptions from OMIM:46 260370,167755,615935

Aliases & Classifications for Pancreatic Agenesis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Pancreatic Agenesis, Aliases & Descriptions:

Name: Pancreatic Agenesis 8 9 42
Pancreatic Agenesis, Congenital 42 22 62
Partial Pancreatic Agenesis 8 48 46
 
Congenital Pancreatic Agenesis 42 48
Partial Agenesis of the Pancreas 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
partial pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050877
ICD10 via Orphanet26 Q45.0

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/GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus29.6ABCC8, KCNJ11, PDX1, INS, GCK
2permanent neonatal diabetes mellitus29.6ABCC8, INS, GCK
3diabetes mellitus29.6ABCC8, KCNJ11, INS, PDX1, GCK
4obesity29.2ABCC8, GCK, INS, KCNJ11
5pancreatitis10.7
6pancreatic agenesis and congenital heart defects10.3
7pancreatic agenesis 210.1
8pancreatic agenesis 110.1
9hypercholesterolemia10.1PDX1, INS
10hyperinsulinemic hypoglycemia10.1ABCC8, INS
11gastroduodenitis10.0
12congenital diaphragmatic hernia10.0
13congenital heart disease10.0
14pervasive developmental disorder10.0
15agenesis of the dorsal pancreas10.0
16renal dysplasia10.0
17polycystic ovary syndrome9.9INS, GATA6
18hyperuricemia9.9GCK, INS
19type 1 diabetes mellitus9.9INS, GCK
20glucose intolerance9.8GCK, PDX1, INS
21cystic fibrosis9.8KCNJ11, ABCC8, INS
22familial hyperinsulinism9.8KCNJ11, ABCC8, GCK
23hyperammonemia multi-gene panels9.7ABCC8, KCNJ11, GCK
24metabolic syndrome x9.7ABCC8, GCK, INS
25maturity-onset diabetes of the young9.6PDX1, INS, GCK, KCNJ11
26insulin resistance9.6GCK, INS, ABCC8
27hyperinsulinism9.5ABCC8, KCNJ11, INS, GCK
28gestational diabetes9.5INS, ABCC8, KCNJ11, GCK
29hypoglycemia9.5ABCC8, GCK, KCNJ11, INS
30insulinoma9.4PDX1, KCNJ11, ABCC8, INS, GCK
31hyperglycemia9.4GCK, ABCC8, KCNJ11, INS, PDX1
32type 2 diabetes mellitus9.4KCNJ11, INS, PDX1, GCK, ABCC8

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 by clinical synopsis from OMIM:

167755

Clinical features from OMIM:

260370,167755,615935

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:

(show all 7)
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
5 autosomal dominant inheritance HP:0000006
6 diabetes mellitus HP:0000819
7 abnormality of the pancreas HP:0001732

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:

32
Pancreas, Heart

Animal Models for Pancreatic Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Pancreatic Agenesis:

36
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 26)
idTitleAuthorsYear
1
MR in complete dorsal pancreatic agenesis: Case report and review of literature. (25024525)
2014
2
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (24212882)
2014
3
A novel mutation in GATA6 causes pancreatic agenesis. (24433315)
2014
4
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (24382792)
2014
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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Clinvar genetic disease variations for Pancreatic Agenesis:

6
id Gene Name Type Significance SNP ID Assembly Location
1PDX1NM_000209.3(PDX1): c.492G> T (p.Glu164Asp)single nucleotide variantPathogenicrs80356661GRCh37Chr 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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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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Pathways related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTF1A, GATA6
29.6INS, PDX1
39.3KCNJ11, ABCC8
49.3KCNJ11, ABCC8
5
Show member pathways
9.3ABCC8, KCNJ11
6
Show member pathways
9.3ABCC8, KCNJ11
7
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.1INS, GCK
8
Show member pathways
9.1INS, GCK
9
Show member pathways
8.8ABCC8, KCNJ11, INS
10
Show member pathways
8.3PDX1, GCK, PTF1A, INS
11
Show member pathways
8.3PDX1, PTF1A, INS, GCK
12
Show member pathways
8.0INS, KCNJ11, ABCC8, GCK
13
Show member pathways
7.6ABCC8, GCK, PDX1, INS, KCNJ11
147.6GCK, PDX1, INS, KCNJ11, ABCC8
15
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/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1nicotinamide44 1110.8INS, PDX1
2dehydroepiandrosterone sulfate449.7GATA6, INS
3cibenzoline449.7KCNJ11, ABCC8
4meglitinide449.7ABCC8, INS
5mitiglinide44 1110.7INS, ABCC8
6nicorandil44 2810.7ABCC8, KCNJ11
7mgadp449.7KCNJ11, ABCC8
8glipizide44 50 1111.7INS, ABCC8
9chlorpropamide44 50 1111.7ABCC8, INS
10cromakalim44 2810.7ABCC8, KCNJ11
11minoxidil44 28 1111.7KCNJ11, ABCC8
12nateglinide44 50 1111.6INS, ABCC8
13proglucagon449.6GCK, PDX1
14chromium picolinate449.5INS, GCK
15pip2449.4ABCC8, KCNJ11
16aicar44 24 1111.4GCK, INS
172-deoxyglucose44 1110.3GCK, INS
18repaglinide50 44 1111.2INS, KCNJ11, ABCC8
19gliclazide44 50 1111.2INS, KCNJ11, ABCC8
20glimepiride44 50 1111.2ABCC8, KCNJ11, INS
21glibenclamide44 28 50 6112.2ABCC8, KCNJ11, INS
22preproinsulin449.2INS, PDX1, GCK
23i-app449.2GCK, PDX1, INS
24incretin449.2INS, PDX1, GCK
25streptozotocin449.2GCK, PDX1, INS
26carbohydrates448.8GCK, INS
27glycogen44 249.8GCK, INS, ABCC8
28potassium44 24 1110.8ABCC8, KCNJ11, GCK
29fatty acid448.7GCK, INS, ABCC8
30leucine448.7GCK, KCNJ11, ABCC8
31c-peptide448.7KCNJ11, INS, PDX1, GCK
32magnesium44 24 1110.5GCK, KCNJ11, ABCC8
33Adenosine triphosphate24 119.5GCK, KCNJ11, ABCC8
34diazoxide44 61 28 1111.4GCK, INS, KCNJ11, ABCC8
35tolbutamide44 28 50 1111.4ABCC8, KCNJ11, INS, GCK
36metformin44 50 1110.4ABCC8, KCNJ11, INS, GCK
37adp44 28 2410.4ABCC8, KCNJ11, GCK
38cholesterol44 28 24 1111.4ABCC8, INS, GATA6, GCK
39arginine448.3ABCC8, KCNJ11, INS, GCK
40glutamate448.3ABCC8, KCNJ11, INS, GCK
41serine448.2GCK, PDX1, INS, ABCC8
42sulfonylurea448.1GCK, PDX1, INS, KCNJ11, ABCC8
43katp448.0ABCC8, KCNJ11, INS, PDX1, GCK
44glucose448.0GCK, PDX1, INS, KCNJ11, ABCC8

GO Terms for genes affiliated with Pancreatic Agenesis

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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:0033099.9PDX1, GATA6
2exocrine pancreas developmentGO:0310179.9PDX1, PTF1A
3liver developmentGO:0018899.6GATA6, PDX1
4detection of glucoseGO:0515949.6PDX1, GCK
5positive regulation of insulin secretionGO:0320249.3PDX1, GCK
6potassium ion transmembrane transportGO:0718059.3KCNJ11, ABCC8
7negative regulation of gluconeogenesisGO:0457219.3INS, GCK
8positive regulation of glycolytic processGO:0458219.3GCK, INS
9glucose metabolic processGO:0060069.3INS, PDX1, KCNJ11
10positive regulation of glycogen biosynthetic processGO:0457259.3INS, GCK
11response to drugGO:0424939.2KCNJ11, PDX1, GATA6
12energy reserve metabolic processGO:0061129.1KCNJ11, INS, ABCC8
13glucose homeostasisGO:0425939.0INS, GCK, PDX1
14glucose transportGO:0157588.8GCK, INS
15endocrine pancreas developmentGO:0310188.7GCK, PTF1A, PDX1, INS
16regulation of insulin secretionGO:0507968.3ABCC8, INS, GCK, KCNJ11
17small molecule metabolic processGO:0442817.9GCK, INS, KCNJ11, ABCC8

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

Sources for Pancreatic Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet