MCID: PNC045
MIFTS: 40

Pancreatic Agenesis

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

Aliases & Classifications for Pancreatic Agenesis

MalaCards integrated aliases for Pancreatic Agenesis:

Name: Pancreatic Agenesis 12 37 13 15
Partial Pancreatic Agenesis 12 59
Partial Agenesis of the Pancreas 59
Pancreatic Agenesis, Congenital 73
Congenital Pancreatic Agenesis 59
Agenesis, Pancreatic 40

Characteristics:

Orphanet epidemiological data:

59
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050877
Orphanet 59 ORPHA2805
UMLS via Orphanet 74 C1850096
ICD10 via Orphanet 34 Q45.0
KEGG 37 H00861
UMLS 73 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 atrial heart septal defect 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 58)
# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 28.3 GATA4 GATA6
2 neonatal diabetes mellitus 27.9 ABCC8 GCK INS KCNJ11 PDX1 PTF1A
3 diabetes mellitus 27.4 ABCC8 GATA6 GCK INS KCNJ11 PDX1
4 diabetes mellitus, permanent neonatal 26.8 ABCC8 GATA6 GCK INS KCNJ11 PDX1
5 pancreatic agenesis 1 12.3
6 pancreatic agenesis 2 12.3
7 heart defects, congenital, and other congenital anomalies 12.0
8 pancreas, dorsal, agenesis of 11.3
9 pancreatic and cerebellar agenesis 11.2
10 yorifuji okuno syndrome 10.9
11 pancreatitis 10.4
12 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
13 exocrine pancreatic insufficiency 10.4 PDX1 PTF1A
14 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
15 usher syndrome, type ic 10.3 ABCC8 KCNJ11
16 fanconi-bickel syndrome 10.3 ABCC8 INS
17 cantu syndrome 10.3 ABCC8 KCNJ11
18 intestinal atresia 10.3 GCK PDX1
19 maturity-onset diabetes of the young, type 2 10.2 GCK INS
20 carbohydrate metabolic disorder 10.1 ABCC8 INS
21 alstrom syndrome 10.0 INS KCNJ11
22 partial atrioventricular canal 10.0 GATA4 GATA6
23 complete atrioventricular canal-ventricle hypoplasia syndrome 10.0 GATA4 GATA6
24 pulmonary valve disease 10.0 GATA4 GATA6
25 hyperinsulinemic hypoglycemia, familial, 2 9.9 ABCC8 INS KCNJ11
26 atrial septal defect 4 9.9 GATA4 GATA6
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 patent ductus arteriosus 1 9.8 GATA4 GATA6
32 acquired metabolic disease 9.7 GCK INS KCNJ11
33 gestational diabetes 9.7 GCK INS KCNJ11
34 heart septal defect 9.7 GATA4 GATA6
35 diabetes mellitus, insulin-dependent 9.7 GCK INS PDX1
36 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 GCK INS
37 diaphragmatic hernia, congenital 9.6
38 renal hypodysplasia/aplasia 1 9.6
39 renal hypodysplasia/aplasia 3 9.6
40 pervasive developmental disorder 9.6
41 portal hypertension 9.6
42 heart disease 9.6
43 gastroduodenitis 9.6
44 recurrent acute pancreatitis 9.6
45 igg4-related hepatopathy 9.6
46 renal dysplasia 9.6
47 atrioventricular septal defect 9.6 GATA4 GATA6
48 insulinoma 9.4 ABCC8 GCK INS PDX1
49 factitious disorder 9.3 ABCC8 GCK INS KCNJ11
50 endocrine pancreas disease 9.3 ABCC8 GCK INS KCNJ11

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 GCK PTF1A HMX1 RFX6 INS GATA4
2 endocrine/exocrine gland MP:0005379 10.01 GCK PTF1A RFX6 INS ABCC8 GATA4
3 homeostasis/metabolism MP:0005376 9.97 GCK PTF1A RFX6 INS ABCC8 GATA4
4 digestive/alimentary MP:0005381 9.83 PDX1 PTF1A INS GATA4 RFX6
5 mortality/aging MP:0010768 9.81 PDX1 GCK PTF1A HMX1 INS KCNJ11
6 liver/biliary system MP:0005370 9.73 GCK PTF1A INS GATA4 GATA6 PDX1
7 muscle MP:0005369 9.35 GATA6 PDX1 INS KCNJ11 GATA4
8 no phenotypic analysis MP:0003012 9.17 PTF1A HMX1 INS ABCC8 GATA4 KCNJ11

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:

41
Pancreas, Heart, Uterus, Liver, Kidney

Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show all 37)
# Title Authors Year
1
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
2
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. ( 28436541 )
2017
3
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. ( 28663161 )
2017
4
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
5
Isolated Dorsal Pancreatic Agenesis. ( 27981930 )
2016
6
Dorsal pancreatic agenesis: description of CT signs. ( 26976832 )
2016
7
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. ( 27654989 )
2016
8
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. ( 25706805 )
2015
9
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. ( 25791554 )
2015
10
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. ( 24212882 )
2014
11
A novel mutation in GATA6 causes pancreatic agenesis. ( 24433315 )
2014
12
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. ( 25584257 )
2014
13
MR in complete dorsal pancreatic agenesis: Case report and review of literature. ( 25024525 )
2014
14
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
15
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
16
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. ( 23223019 )
2013
17
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. ( 24147249 )
2013
18
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. ( 23006325 )
2012
19
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. ( 22270042 )
2012
20
GATA6 haploinsufficiency causes pancreatic agenesis in humans. ( 22158542 )
2012
21
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. ( 22806356 )
2012
22
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. ( 21488951 )
2011
23
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
24
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )
2010
25
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. ( 21589822 )
2009
26
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )
2009
27
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. ( 19646249 )
2009
28
Neonatal diabetes mellitus due to pancreatic agenesis. ( 18426328 )
2008
29
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. ( 18547237 )
2008
30
Dorsal pancreatic agenesis. ( 17625298 )
2007
31
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. ( 16677169 )
2006
32
Pancreatic agenesis as cause for neonatal diabetes mellitus. ( 15770578 )
2005
33
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. ( 11193482 )
2000
34
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )
1997
35
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
36
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. ( 3443265 )
1987
37
Long-term survival in a case of functional pancreatic agenesis. ( 7000995 )
1980

Variations for Pancreatic Agenesis

ClinVar genetic disease variations for Pancreatic Agenesis:

6
(show all 11)
# 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.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 GRCh38 Chromosome 13, 27924341: 27924341
4 PDX1 NM_000209.3(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 GRCh37 Chromosome 13, 28498518: 28498518
5 PDX1 NM_000209.3(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 GRCh38 Chromosome 13, 27924381: 27924381
6 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
7 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh38 Chromosome 13, 27920326: 27920326
8 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
9 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh38 Chromosome 13, 27924382: 27924382
10 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 28498488: 28498488
11 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:

37
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 GCK INS PDX1 PTF1A RFX6
2
Show member pathways
12.63 ABCC8 GCK INS KCNJ11 PDX1
3
Show member pathways
11.97 ABCC8 INS KCNJ11
4 11.68 GATA4 INS PDX1 PTF1A
5
Show member pathways
11.67 GCK INS PDX1
6
Show member pathways
11.55 GCK INS PDX1 PTF1A RFX6
7
Show member pathways
11.34 ABCC8 GCK INS KCNJ11 PDX1
8 11.27 ABCC8 KCNJ11
9 11.22 GATA4 INS
10 11.19 ABCC8 KCNJ11
11 11.18 GATA4 GATA6 PTF1A
12 11.12 GATA4 GATA6
13 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 27)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.91 GATA4 GATA6 PDX1 PTF1A RFX6
2 positive regulation of transcription, DNA-templated GO:0045893 9.89 GATA4 GATA6 PDX1 PTF1A RFX6
3 response to drug GO:0042493 9.85 ABCC8 GATA4 GATA6 KCNJ11
4 animal organ morphogenesis GO:0009887 9.76 GATA4 GATA6 PDX1
5 cell fate commitment GO:0045165 9.7 GATA4 GATA6 PTF1A
6 positive regulation of BMP signaling pathway GO:0030513 9.63 GATA4 GATA6
7 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.62 PDX1 RFX6
8 cardiac muscle cell differentiation GO:0055007 9.62 GATA4 GATA6
9 endocrine pancreas development GO:0031018 9.61 PDX1 RFX6
10 anatomical structure formation involved in morphogenesis GO:0048646 9.61 GATA4 GATA6
11 positive regulation of glycogen biosynthetic process GO:0045725 9.59 GCK INS
12 digestive tract development GO:0048565 9.58 GATA4 GATA6 PDX1
13 negative regulation of gluconeogenesis GO:0045721 9.57 GCK INS
14 exocrine pancreas development GO:0031017 9.56 PDX1 PTF1A
15 glucose homeostasis GO:0042593 9.56 GCK INS PDX1 RFX6
16 intestinal epithelial cell differentiation GO:0060575 9.54 GATA4 GATA6
17 tissue development GO:0009888 9.54 GATA4 GATA6 PTF1A
18 pancreas development GO:0031016 9.5 GATA6 PDX1 PTF1A
19 positive regulation of cardioblast differentiation GO:0051891 9.48 GATA4 GATA6
20 detection of glucose GO:0051594 9.46 GCK PDX1
21 regulation of insulin secretion GO:0050796 9.46 ABCC8 GCK KCNJ11 RFX6
22 pancreatic A cell differentiation GO:0003310 9.43 GATA6 RFX6
23 glucose metabolic process GO:0006006 9.26 GCK INS KCNJ11 PDX1
24 type B pancreatic cell differentiation GO:0003309 8.8 GATA6 PDX1 RFX6
25 regulation of transcription, DNA-templated GO:0006355 10.12 GATA4 GATA6 HMX1 INS PDX1 PTF1A
26 transcription, DNA-templated GO:0006351 10.11 GATA4 GATA6 HMX1 PDX1 PTF1A RFX6
27 positive regulation of transcription by RNA polymerase II GO:0045944 10 GATA4 GATA6 PDX1 PTF1A RFX6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 GATA4 GATA6 HMX1 PDX1 PTF1A RFX6
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.73 GATA4 GATA6 HMX1 PDX1 PTF1A RFX6
3 chromatin binding GO:0003682 9.62 GATA4 GATA6 PDX1 PTF1A
4 transcription regulatory region DNA binding GO:0044212 9.61 GATA4 GATA6 RFX6
5 sequence-specific DNA binding GO:0043565 9.55 GATA4 GATA6 HMX1 PDX1 PTF1A
6 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.54 GATA4 GATA6 RFX6
7 RNA polymerase II transcription factor binding GO:0001085 9.46 GATA4 GATA6
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 GATA4 GATA6 HMX1 RFX6
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Pancreatic Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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