MCID: PNC045
MIFTS: 40

Pancreatic Agenesis

Categories: Genetic diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pancreatic Agenesis

MalaCards integrated aliases for Pancreatic Agenesis:

Name: Pancreatic Agenesis 12 36 13 14
Partial Pancreatic Agenesis 12 55
Partial Agenesis of the Pancreas 55
Pancreatic Agenesis, Congenital 69
Congenital Pancreatic Agenesis 55

Characteristics:

Orphanet epidemiological data:

55
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050877
Orphanet 55 ORPHA2805
UMLS via Orphanet 70 C1850096
ICD10 via Orphanet 33 Q45.0
KEGG 36 H00861
UMLS 69 C1850096

Summaries for Pancreatic Agenesis

Disease Ontology : 12 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

MalaCards based summary : Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to diabetes mellitus and neonatal diabetes mellitus. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Type II diabetes mellitus and Maturity onset diabetes of the young. Affiliated tissues include pancreas, heart and uterus, and related phenotypes are shRNA abundance <= 50% and growth/size/body region

Related Diseases for Pancreatic Agenesis

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 1 Pancreatic Agenesis 2

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 29.0 ABCC8 GCK INS KCNJ11 PDX1
2 neonatal diabetes mellitus 28.7 ABCC8 GCK INS KCNJ11 PDX1 PTF1A
3 diabetes mellitus, permanent neonatal 27.8 ABCC8 GATA6 GCK INS KCNJ11 PDX1
4 pancreatic agenesis 1 12.3
5 pancreatic agenesis 2 12.3
6 heart defects, congenital, and other congenital anomalies 12.0
7 pancreas, dorsal, agenesis of 11.2
8 yorifuji okuno syndrome 11.0
9 pancreatitis 10.4
10 exocrine pancreatic insufficiency 10.2 PDX1 PTF1A
11 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
12 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
13 usher syndrome, type ic 10.2 ABCC8 KCNJ11
14 cantu syndrome 10.2 ABCC8 KCNJ11
15 fanconi-bickel syndrome 10.2 ABCC8 INS
16 hyperinsulinemic hypoglycemia, familial, 3 10.2 ABCC8 GCK
17 intestinal atresia 10.2 GCK PDX1
18 maturity-onset diabetes of the young, type 2 10.1 GCK INS
19 carbohydrate metabolic disorder 10.1 ABCC8 INS
20 partial atrioventricular canal 10.0 GATA4 GATA6
21 complete atrioventricular canal-ventricle hypoplasia syndrome 10.0 GATA4 GATA6
22 alstrom syndrome 10.0 INS KCNJ11
23 critical illness polyneuropathy 10.0 GCK INS
24 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 GCK INS
25 pulmonary valve disease 10.0 GATA4 GATA6
26 hyperinsulinemic hypoglycemia, familial, 2 10.0 ABCC8 INS KCNJ11
27 acute insulin response 9.9 ABCC8 INS KCNJ11
28 pancreas disease 9.9 ABCC8 INS KCNJ11
29 diabetes mellitus, transient neonatal, 1 9.9 ABCC8 INS KCNJ11
30 munchausen by proxy 9.9 ABCC8 GCK KCNJ11
31 acquired metabolic disease 9.8 GCK INS KCNJ11
32 gestational diabetes 9.8 GCK INS KCNJ11
33 diabetes mellitus, insulin-dependent 9.8 GCK INS PDX1
34 heart disease 9.8
35 transposition of the great arteries 9.8 GATA4 GATA6
36 heart septal defect 9.7 GATA4 GATA6
37 insulinoma 9.6 ABCC8 GCK INS PDX1
38 diaphragmatic hernia, congenital 9.6
39 body mass index quantitative trait locus 11 9.6
40 body mass index quantitative trait locus 9 9.6
41 body mass index quantitative trait locus 8 9.6
42 body mass index quantitative trait locus 4 9.6
43 body mass index quantitative trait locus 10 9.6
44 body mass index quantitative trait locus 7 9.6
45 body mass index quantitative trait locus 12 9.6
46 body mass index quantitative trait locus 14 9.6
47 body mass index quantitative trait locus 18 9.6
48 pervasive developmental disorder 9.6
49 portal hypertension 9.6
50 atrial heart septal defect 9.6

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



Diseases related to Pancreatic Agenesis

Symptoms & Phenotypes for Pancreatic Agenesis

GenomeRNAi Phenotypes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 GATA4 GATA6 GCK KCNJ11 PDX1 PTF1A

MGI Mouse Phenotypes related to Pancreatic Agenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 RFX6 INS GATA4 KCNJ11 GATA6 PDX1
2 endocrine/exocrine gland MP:0005379 10.01 RFX6 INS ABCC8 GATA4 KCNJ11 PDX1
3 homeostasis/metabolism MP:0005376 9.97 RFX6 INS ABCC8 GATA4 KCNJ11 GATA6
4 digestive/alimentary MP:0005381 9.83 RFX6 PTF1A INS GATA4 PDX1
5 mortality/aging MP:0010768 9.81 RFX6 INS KCNJ11 GATA4 GATA6 PDX1
6 liver/biliary system MP:0005370 9.73 INS GATA4 GATA6 PDX1 GCK PTF1A
7 muscle MP:0005369 9.35 INS KCNJ11 GATA4 GATA6 PDX1
8 no phenotypic analysis MP:0003012 9.17 INS ABCC8 GATA4 KCNJ11 PDX1 PTF1A

Drugs & Therapeutics for Pancreatic Agenesis

Search Clinical Trials , NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

Anatomical Context for Pancreatic Agenesis

MalaCards organs/tissues related to Pancreatic Agenesis:

38
Pancreas, Heart, Uterus, Liver, Kidney

Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show all 36)
# Title Authors Year
1
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. ( 28663161 )
2017
2
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
3
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. ( 28436541 )
2017
4
Isolated Dorsal Pancreatic Agenesis. ( 27981930 )
2016
5
Dorsal pancreatic agenesis: description of CT signs. ( 26976832 )
2016
6
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. ( 27654989 )
2016
7
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. ( 25791554 )
2015
8
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. ( 25706805 )
2015
9
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. ( 24212882 )
2014
10
A novel mutation in GATA6 causes pancreatic agenesis. ( 24433315 )
2014
11
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. ( 25584257 )
2014
12
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
13
MR in complete dorsal pancreatic agenesis: Case report and review of literature. ( 25024525 )
2014
14
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. ( 24147249 )
2013
15
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. ( 23223019 )
2013
16
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
17
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. ( 22806356 )
2012
18
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. ( 22270042 )
2012
19
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. ( 23006325 )
2012
20
GATA6 haploinsufficiency causes pancreatic agenesis in humans. ( 22158542 )
2012
21
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. ( 21488951 )
2011
22
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
23
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )
2010
24
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )
2009
25
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. ( 19646249 )
2009
26
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. ( 21589822 )
2009
27
Neonatal diabetes mellitus due to pancreatic agenesis. ( 18426328 )
2008
28
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. ( 18547237 )
2008
29
Dorsal pancreatic agenesis. ( 17625298 )
2007
30
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. ( 16677169 )
2006
31
Pancreatic agenesis as cause for neonatal diabetes mellitus. ( 15770578 )
2005
32
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. ( 11193482 )
2000
33
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )
1997
34
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
35
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. ( 3443265 )
1987
36
Long-term survival in a case of functional pancreatic agenesis. ( 7000995 )
1980

Variations for Pancreatic Agenesis

ClinVar genetic disease variations for Pancreatic Agenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDX1 PDX1, 1-BP DEL, 188C deletion Pathogenic
2 PDX1 NM_000209.3(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 GRCh37 Chromosome 13, 28498478: 28498478
3 PDX1 NM_000209.3(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 GRCh37 Chromosome 13, 28498518: 28498518
4 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
5 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
6 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 27924351: 27924351

Expression for Pancreatic Agenesis

Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for Pancreatic Agenesis

Pathways related to Pancreatic Agenesis according to KEGG:

36
# Name Kegg Source Accession
1 Type II diabetes mellitus hsa04930
2 Maturity onset diabetes of the young hsa04950

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 ABCC8 GCK INS KCNJ11 PDX1
2
Show member pathways
11.97 ABCC8 INS KCNJ11
3 11.68 GATA4 INS PDX1 PTF1A
4
Show member pathways
11.67 GCK INS PDX1
5
Show member pathways
11.55 GCK INS PDX1 PTF1A RFX6
6
Show member pathways
11.34 ABCC8 GCK INS KCNJ11 PDX1
7 11.26 ABCC8 KCNJ11
8 11.23 GATA4 GATA6 PTF1A
9 11.22 GATA4 INS
10 11.19 ABCC8 KCNJ11
11 11.12 GATA4 GATA6
12 10.66 ABCC8 GCK INS KCNJ11 PDX1

GO Terms for Pancreatic Agenesis

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 GATA4 GATA6 PDX1 PTF1A RFX6
2 transcription by RNA polymerase II GO:0006366 9.88 GATA4 GATA6 PDX1 PTF1A RFX6
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 GATA4 GATA6 PDX1 PTF1A RFX6
4 response to drug GO:0042493 9.83 ABCC8 GATA4 GATA6 KCNJ11
5 cellular response to glucose stimulus GO:0071333 9.62 GATA4 KCNJ11
6 positive regulation of BMP signaling pathway GO:0030513 9.61 GATA4 GATA6
7 negative regulation of insulin secretion GO:0046676 9.61 ABCC8 KCNJ11
8 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.6 PDX1 RFX6
9 cardiac muscle cell differentiation GO:0055007 9.59 GATA4 GATA6
10 endocrine pancreas development GO:0031018 9.58 PDX1 RFX6
11 cellular glucose homeostasis GO:0001678 9.57 ABCC8 GCK
12 positive regulation of glycogen biosynthetic process GO:0045725 9.56 GCK INS
13 glucose homeostasis GO:0042593 9.56 GCK INS PDX1 RFX6
14 negative regulation of gluconeogenesis GO:0045721 9.54 GCK INS
15 exocrine pancreas development GO:0031017 9.51 PDX1 PTF1A
16 pancreas development GO:0031016 9.5 GATA6 PDX1 PTF1A
17 intestinal epithelial cell differentiation GO:0060575 9.49 GATA4 GATA6
18 regulation of insulin secretion GO:0050796 9.46 ABCC8 GCK KCNJ11 RFX6
19 positive regulation of cardioblast differentiation GO:0051891 9.43 GATA4 GATA6
20 detection of glucose GO:0051594 9.4 GCK PDX1
21 pancreatic A cell differentiation GO:0003310 9.37 GATA6 RFX6
22 glucose metabolic process GO:0006006 9.26 GCK INS KCNJ11 PDX1
23 type B pancreatic cell differentiation GO:0003309 8.8 GATA6 PDX1 RFX6
24 transcription, DNA-templated GO:0006351 10.09 GATA4 GATA6 HMX1 PDX1 PTF1A RFX6
25 regulation of transcription, DNA-templated GO:0006355 10.09 GATA4 GATA6 HMX1 INS PDX1 PTF1A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 GATA4 GATA6 HMX1 PDX1 PTF1A RFX6
2 transcription regulatory region DNA binding GO:0044212 9.58 GATA4 GATA6 RFX6
3 chromatin binding GO:0003682 9.56 GATA4 GATA6 PDX1 PTF1A
4 sequence-specific DNA binding GO:0043565 9.55 GATA4 GATA6 HMX1 PDX1 PTF1A
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.5 GATA4 GATA6 RFX6
6 RNA polymerase II transcription factor binding GO:0001085 9.43 GATA4 GATA6
7 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.92 GATA4 GATA6 HMX1 RFX6

Sources for Pancreatic Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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