MCID: PNC045
MIFTS: 49

Pancreatic Agenesis malady

Fetal, Endocrine categories

Summaries for Pancreatic Agenesis

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 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 Selected targets of HNF1 and Development Leptin signaling via PI3K-dependent pathway. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Affiliated tissues include heart and pancreas, and related mouse phenotypes are no phenotypic analysis and muscle.

Description from OMIM:47 167755,260370

Aliases & Classifications for Pancreatic Agenesis

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pancreatic agenesis 43 47
pancreatic agenesis, congenital 43 22 61
congenital pancreatic agenesis 43 49
partial pancreatic agenesis 49 47
partial agenesis of the pancreas 49


External Ids:

ICD10 via Orphanet26 Q45.0

Related Diseases for Pancreatic Agenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus30.4INS, KCNJ11, ABCC8, GCK, PDX1
2permanent neonatal diabetes mellitus29.9KCNJ11, INS, ABCC8
3pancreatic agenesis and congenital heart defects10.3
4exocrine pancreatic insufficiency10.1
5diabetes, permanent neonatal10.1
6glucagonoma10.0PDX1
7pancreatitis10.0INS
8beckwith-wiedemann syndrome10.0ABCC8
9hypertension10.0INS
10pituitary adenoma10.0ABCC8
11essential hypertension10.0INS
12polycystic ovary syndrome10.0INS, GATA6
13adenoma10.0GATA6, INS
14hyperinsulinemic hypoglycemia10.0ABCC8, INS
15type 1 diabetes10.0INS, GCK
16ischemia10.0GCK, ABCC8
17pancreatic cancer10.0INS, PDX1
18hyperuricemia10.0GCK, INS
19familial hyperinsulinism10.0ABCC8, KCNJ11, GCK
20hyperammonemia multi-gene panels10.0KCNJ11, GCK, ABCC8
21insulin resistance10.0GCK, INS, ABCC8
22cystic fibrosis10.0KCNJ11, INS, ABCC8
23metabolic syndrome x10.0ABCC8, GCK, INS
24maturity-onset diabetes of the young10.0GCK, KCNJ11, PDX1, INS
25gestational diabetes10.0GCK, INS, ABCC8, KCNJ11
26hypoglycemia10.0ABCC8, INS, KCNJ11, GCK
27glucose intolerance10.0GCK, KCNJ11, ABCC8, INS
28hyperinsulinism10.0ABCC8, INS, GCK, KCNJ11
29obesity10.0GCK, INS, ABCC8, KCNJ11
30insulinoma10.0KCNJ11, PDX1, ABCC8, GCK, INS
31type 2 diabetes mellitus10.0KCNJ11, GCK, PDX1, INS, ABCC8
32renal agenesis10.0
33congenital diaphragmatic hernia10.0
34pancreatitis, chronic10.0
35renal dysplasia10.0
36renal hypoplasia10.0
37hyperglycemia10.0KCNJ11, GCK, ABCC8, INS, PDX1
38diabetes mellitus10.0PDX1, KCNJ11, INS, ABCC8, GCK

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



Diseases related to pancreatic agenesis

Clinical Features for Pancreatic Agenesis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

167755,260370

Clinical synopsis from OMIM:

167755

Symptoms:

49 (see all 5)
  • 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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Pancreatic Agenesis:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital22

Anatomical Context for Pancreatic Agenesis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pancreatic Agenesis:

33
Heart, Pancreas

Animal Models for Pancreatic Agenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Pancreatic Agenesis

Sources:
51PubMed
See all sources

Articles related to Pancreatic Agenesis:

(show all 31)
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
The novel triad of dorsal agenesis of the pancreas with concurrent pancreatic ductal adenocarcinoma and nonalcoholic chronic calcific pancreatitis: a case series and review of the literature. (21512846)
2011
13
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
14
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
15
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
16
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
17
Agenesis of the dorsal pancreas and its association with pancreatic tumors. (19390403)
2009
18
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
19
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
20
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
21
Dorsal pancreatic agenesis. (17625298)
2007
22
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
23
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
24
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
25
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. (12884440)
2003
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
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. (7913714)
1994
29
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
30
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
31
Long-term survival in a case of functional pancreatic agenesis. (7000995)
1980

Genetic Variations for Pancreatic Agenesis

Expression for genes affiliated with Pancreatic Agenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Pancreatic Agenesis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1minoxidil45 29 1112.2ABCC8
2cibenzoline459.7KCNJ11, ABCC8
3meglitinide459.7INS, ABCC8
4mitiglinide45 1110.7ABCC8, INS
5nicotinamide45 1110.7PDX1, INS
6nicorandil45 2910.7ABCC8, KCNJ11
7mgadp459.7KCNJ11, ABCC8
8dehydroepiandrosterone sulfate459.7INS, GATA6
9glipizide45 1110.7ABCC8, INS
10chlorpropamide45 1110.7INS, ABCC8
11cromakalim45 2910.7KCNJ11, ABCC8
12nateglinide45 50 1111.6INS, ABCC8
13Glyburide119.6ABCC8, KCNJ11
14proglucagon459.5PDX1, GCK
15chromium picolinate459.5INS, GCK
16aicar45 11 2411.3INS, GCK
17pip2459.2ABCC8, KCNJ11
18repaglinide45 50 1111.2KCNJ11, INS, ABCC8
19glimepiride45 50 1111.2KCNJ11, INS, ABCC8
20gliclazide45 50 1111.2ABCC8, INS, KCNJ11
212-deoxyglucose45 1110.2INS, GCK
22glibenclamide45 29 50 6012.2KCNJ11, INS, ABCC8
23preproinsulin459.1INS, GCK, PDX1
24i-app459.1PDX1, GCK, INS
25incretin459.1PDX1, GCK, INS
26streptozotocin459.1INS, PDX1, GCK
27glycogen45 249.7ABCC8, INS, GCK
28potassium45 11 2410.7ABCC8, GCK, KCNJ11
29fatty acid458.6ABCC8, GCK, INS
30c-peptide458.6GCK, KCNJ11, INS, PDX1
31leucine458.5KCNJ11, GCK, ABCC8
32magnesium45 11 2410.5ABCC8, GCK, KCNJ11
33diazoxide45 60 29 1111.4ABCC8, INS, GCK, KCNJ11
34tolbutamide45 50 29 1111.4ABCC8, INS, GCK, KCNJ11
35metformin45 50 1110.4GCK, KCNJ11, ABCC8, INS
36cholesterol45 29 11 2411.4GCK, GATA6, INS, ABCC8
37arginine458.3ABCC8, INS, GCK, KCNJ11
38glutamate458.3KCNJ11, GCK, ABCC8, INS
39sulfonylurea458.0GCK, PDX1, ABCC8, INS, KCNJ11
40katp458.0INS, PDX1, KCNJ11, ABCC8, GCK
41glucose458.0PDX1, GCK, INS, KCNJ11, ABCC8
42serine457.8GCK, PDX1, ABCC8, INS

GO Terms for genes affiliated with Pancreatic Agenesis

Sources:
16Gene Ontology
See all sources

Cellular components related to Pancreatic Agenesis according to GeneCards/GeneDecks:

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

Biological processes related to Pancreatic Agenesis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1type B pancreatic cell differentiationGO:0033099.9GATA6, PDX1
2liver developmentGO:0018899.6GATA6, PDX1
3detection of glucoseGO:0515949.5GCK, PDX1
4potassium ion transmembrane transportGO:0718059.4KCNJ11, ABCC8
5negative regulation of gluconeogenesisGO:0457219.3INS, GCK
6positive regulation of glycolysisGO:0458219.3INS, GCK
7positive regulation of glycogen biosynthetic processGO:0457259.3INS, GCK
8positive regulation of insulin secretionGO:0320249.2PDX1, GCK
9glucose metabolic processGO:0060069.2PDX1, INS, KCNJ11
10response to drugGO:0424939.2KCNJ11, PDX1, GATA6
11energy reserve metabolic processGO:0061129.0KCNJ11, INS, ABCC8
12glucose transportGO:0157589.0GCK, INS
13endocrine pancreas developmentGO:0310189.0PDX1, INS, GCK
14glucose homeostasisGO:0425939.0INS, PDX1, GCK
15regulation of insulin secretionGO:0507968.3GCK, KCNJ11, INS, ABCC8
16small molecule metabolic processGO:0442817.7KCNJ11, ABCC8, INS, GCK

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

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

Products for genes affiliated with Pancreatic Agenesis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pancreatic Agenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet