MCID: PNC045
MIFTS: 42

Pancreatic Agenesis

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

Aliases & Classifications for Pancreatic Agenesis

MalaCards integrated aliases for Pancreatic Agenesis:

Name: Pancreatic Agenesis 12 36 15
Partial Pancreatic Agenesis 12 58
Partial Agenesis of the Pancreas 58
Pancreatic Agenesis, Congenital 70
Congenital Pancreatic Agenesis 58
Agenesis, Pancreatic 39

Characteristics:

Orphanet epidemiological data:

58
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050877
KEGG 36 H00861
ICD10 via Orphanet 33 Q45.0
UMLS via Orphanet 71 C1850096
Orphanet 58 ORPHA2805
UMLS 70 C1850096

Summaries for Pancreatic Agenesis

KEGG : 36 Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.

MalaCards based summary : Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to hypoglycemia and hyperglycemia. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Affiliated tissues include pancreas, kidney and uterus, and related phenotypes are Decreased viability and Decreased viability

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

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 103)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.0 KCNJ11 INS GCK ABCC8
2 hyperglycemia 30.0 PDX1 KCNJ11 INS HNF1B GCK ABCC8
3 hyperinsulinism 30.0 KCNJ11 INS GCK ABCC8
4 atrial heart septal defect 29.9 GATA6 GATA4 ABCC8
5 type 1 diabetes mellitus 29.9 PDX1 NEUROD1 INS GCK
6 monogenic diabetes 29.7 PDX1 KCNJ11 INS HNF1B GCK GATA6
7 holoprosencephaly 29.6 NKX2-2 MNX1 FOXA2 CNOT1
8 maturity-onset diabetes of the young, type 4 29.6 PDX1 NKX6-2 NKX6-1 NEUROG3 NEUROD1 KCNJ11
9 renal cysts and diabetes syndrome 29.6 PDX1 NEUROD1 KCNJ11 HNF1B GCK GATA4
10 neonatal diabetes 29.4 RFX6 PTF1A PDX1 ONECUT1 NKX2-2 NEUROG3
11 diabetes mellitus 29.2 RFX6 PTF1A PDX1 ONECUT1 NEUROD1 KCNJ11
12 permanent neonatal diabetes mellitus 29.0 RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
13 maturity-onset diabetes of the young 28.3 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
14 heart defects, congenital, and other congenital anomalies 11.8
15 holoprosencephaly 12 with or without pancreatic agenesis 11.6
16 pancreatic agenesis 1 11.6
17 pancreatic agenesis 2 11.6
18 pancreas, dorsal, agenesis of 11.4
19 malignant childhood germ cell neoplasm 10.4 GATA6 GATA4
20 partial atrioventricular canal 10.4 GATA6 GATA4
21 type 1 diabetes mellitus 11 10.3 PDX1 NEUROD1
22 congenital heart defects, multiple types, 4 10.3 GATA6 GATA4
23 munchausen by proxy 10.3 KCNJ11 GCK ABCC8
24 acute insulin response 10.3 KCNJ11 INS ABCC8
25 hyperinsulinemic hypoglycemia, familial, 6 10.3 KCNJ11 GCK ABCC8
26 asphyxia neonatorum 10.3 KCNJ11 INS ABCC8
27 maturity-onset diabetes of the young, type 14 10.3 PDX1 NEUROD1 GCK
28 intestinal atresia 10.3 RFX6 PDX1 GCK
29 diabetes mellitus, ketosis-prone 10.3 KCNJ11 INS ABCC8
30 pancreas, annular 10.3 RFX6 PTF1A
31 interatrial communication 10.3 GATA6 GATA4 ABCC8
32 hyperinsulinemic hypoglycemia, familial, 2 10.3 KCNJ11 INS ABCC8
33 cardiomyopathy, dilated, 1o 10.2 KCNJ11 ABCC8
34 diarrhea 4, malabsorptive, congenital 10.2 RFX6 NEUROG3 NEUROD1
35 wolfram syndrome 10.2 KCNJ11 INS GCK
36 hypoglycemic coma 10.2 INS EPPIN
37 factitious disorder 10.2 KCNJ11 INS GCK ABCC8
38 fructose-1,6-bisphosphatase deficiency 10.2 GCK ABCC8
39 hyperinsulinemic hypoglycemia, familial, 7 10.2 RFX6 KCNJ11 GCK ABCC8
40 diabetes mellitus, neonatal, with congenital hypothyroidism 10.2 NKX6-2 NKX6-1 NEUROD1
41 germ cell and embryonal cancer 10.2 GATA6 GATA4 FOXA2
42 gestational diabetes 10.2 KCNJ11 INS GCK ABCC8
43 tricuspid atresia 10.2 GATA6 GATA4
44 glucose metabolism disease 10.2 KCNJ11 INS GCK ABCC8
45 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.1 RFX6 PTF1A KCNJ11 INS ABCC8
46 diabetes mellitus, permanent neonatal, 1 10.1 PDX1 KCNJ11 INS GCK ABCC8
47 maturity-onset diabetes of the young, type 11 10.1 PDX1 NEUROD1 KCNJ11 HNF1B ABCC8
48 maturity-onset diabetes of the young, type 13 10.1 PDX1 NEUROD1 KCNJ11 GCK ABCC8
49 fanconi-bickel syndrome 10.1 INS ABCC8
50 adrenal cortical carcinoma 10.1 GATA6 GATA4 EPPIN

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 Decreased viability GR00221-A-1 9.53 GCK
2 Decreased viability GR00221-A-2 9.53 GCK
3 Decreased viability GR00221-A-3 9.53 GCK
4 Decreased viability GR00221-A-4 9.53 GCK
5 Decreased viability GR00249-S 9.53 CNOT1 HNF1B MNX1
6 Decreased viability GR00381-A-1 9.53 EPPIN
7 Decreased viability GR00386-A-1 9.53 FOXA2 GATA6 HNF1B MNX1 NKX2-2
8 Decreased viability GR00402-S-2 9.53 CNOT1 NEUROG3 NKX2-2

MGI Mouse Phenotypes related to Pancreatic Agenesis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 FOXA2 GATA4 GATA6 GCK HNF1B INS
2 endocrine/exocrine gland MP:0005379 10.36 ABCC8 FOXA2 GATA4 GCK HNF1B INS
3 growth/size/body region MP:0005378 10.34 ABCC8 FOXA2 GATA4 GATA6 GCK HNF1B
4 homeostasis/metabolism MP:0005376 10.33 ABCC8 FOXA2 GATA4 GATA6 GCK HNF1B
5 mortality/aging MP:0010768 10.28 CNOT1 FOXA2 GATA4 GATA6 GCK HNF1B
6 cardiovascular system MP:0005385 10.22 CNOT1 FOXA2 GATA4 GATA6 GCK INS
7 digestive/alimentary MP:0005381 10.19 FOXA2 GATA4 INS MNX1 NEUROD1 NEUROG3
8 embryo MP:0005380 10.13 FOXA2 GATA4 GATA6 HNF1B INS NKX2-2
9 liver/biliary system MP:0005370 10.02 FOXA2 GATA4 GATA6 GCK HNF1B INS
10 muscle MP:0005369 9.86 CNOT1 GATA4 GATA6 HNF1B INS KCNJ11
11 no phenotypic analysis MP:0003012 9.76 ABCC8 GATA4 INS KCNJ11 NEUROG3 NKX6-1
12 normal MP:0002873 9.65 FOXA2 GATA4 GATA6 INS MNX1 NEUROG3
13 renal/urinary system MP:0005367 9.17 GCK HNF1B INS NEUROD1 NEUROG3 NKX6-2

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:

40
Pancreas, Kidney, Uterus

Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 61 6
20621032 2010
2
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 6 61
19496967 2009
3
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 6 61
9649577 1998
4
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 6 61
8988180 1997
5
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 61 6
8506821 1993
6
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 6
20009086 2010
7
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 6
12970316 2003
8
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 6
9326926 1997
9
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations. 61
32893856 2020
10
Genetically engineered pigs manifesting pancreatic agenesis with severe diabetes. 61
33257422 2020
11
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. 61
32442395 2020
12
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. 61
32207556 2020
13
Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. 61
31797244 2020
14
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA. 61
32524025 2020
15
Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report. 61
31680602 2020
16
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation. 61
32245430 2020
17
Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. 61
32333556 2020
18
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. 61
31066763 2019
19
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 61
31006513 2019
20
Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis. 61
31304717 2019
21
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. 61
30629940 2019
22
Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis. 61
30377453 2019
23
Pancreatic hemi-agenesis in MEN1: A clinical report. 61
29174091 2018
24
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. 61
29396371 2018
25
GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells. 61
29263149 2018
26
Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus. 61
29444795 2018
27
Complete dorsal pancreatic agenesis and unilateral renal agenesis. 61
29487639 2018
28
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. 61
28436541 2018
29
The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival. 61
29180572 2018
30
Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos. 61
29056335 2017
31
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. 61
28663161 2017
32
Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development. 61
28580286 2017
33
Gotta Have GATA for Human Pancreas Development. 61
28475878 2017
34
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 61
28525974 2017
35
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. 61
27654989 2017
36
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 61
28049534 2017
37
Isolated Dorsal Pancreatic Agenesis. 61
27981930 2016
38
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene. 61
27879211 2016
39
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 61
27284104 2016
40
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. 61
27879214 2016
41
Agenesis of the dorsal pancreas: systematic review of a clinical challenge. 61
27468966 2016
42
Neonatal diabetes and protein losing enteropathy: a case report. 61
27098067 2016
43
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. 61
27246810 2016
44
Dorsal pancreatic agenesis: description of CT signs. 61
26976832 2016
45
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling. 61
26932670 2016
46
Mutations in the noncoding genome. 61
26382709 2015
47
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 61
26210631 2015
48
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells. 61
25843046 2015
49
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. 61
25791554 2015
50
Maturity-onset diabetes of the young (MODY): an update. 61
25581748 2015

Variations for Pancreatic Agenesis

ClinVar genetic disease variations for Pancreatic Agenesis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDX1 PDX1, 1-BP DEL, 188C Deletion Pathogenic 8857 GRCh37:
GRCh38:
2 PDX1 NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) SNV Pathogenic 8864 rs80356661 GRCh37: 13:28498478-28498478
GRCh38: 13:27924341-27924341
3 PDX1 NM_000209.4(PDX1):c.532G>A (p.Glu178Lys) SNV Pathogenic 8865 rs80356662 GRCh37: 13:28498518-28498518
GRCh38: 13:27924381-27924381
4 PTF1A NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) SNV Pathogenic 800794 rs1588563037 GRCh37: 10:23482030-23482030
GRCh38: 10:23193101-23193101
5 PDX1 NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) SNV Pathogenic 30124 rs387906777 GRCh37: 13:28498519-28498519
GRCh38: 13:27924382-27924382
6 PDX1 NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) SNV Pathogenic 30124 rs387906777 GRCh37: 13:28498519-28498519
GRCh38: 13:27924382-27924382
7 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs) Deletion Pathogenic 21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
8 PDX1 NM_000209.4(PDX1):c.502A>C (p.Asn168His) SNV Likely pathogenic 436282 rs1555241857 GRCh37: 13:28498488-28498488
GRCh38: 13:27924351-27924351
9 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) SNV Uncertain significance 130054 rs535090775 GRCh37: 10:23481728-23481728
GRCh38: 10:23192799-23192799

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 GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
2
Show member pathways
12.72 PDX1 KCNJ11 INS GCK ABCC8
3 12.38 PDX1 NKX6-1 NEUROD1 INS FOXA2
4
Show member pathways
12.36 ONECUT1 HNF1B GATA6 GATA4 FOXA2
5
Show member pathways
11.94 PDX1 NEUROD1 INS HNF1B GCK FOXA2
6 11.82 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2 NEUROG3
7
Show member pathways
11.68 PDX1 NEUROD1 KCNJ11 INS HNF1B GCK
8 11.61 NKX2-2 NEUROD1 MNX1
9
Show member pathways
11.44 RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
10 11.42 INS GATA4 FOXA2
11 11.42 PTF1A NEUROG3 GATA6 GATA4
12 11.38 ONECUT1 NEUROD1 GATA6 GATA4
13 11.38 PDX1 KCNJ11 INS GCK FOXA2 ABCC8
14 11.35 GATA6 GATA4 FOXA2
15 11.18 NKX6-1 NKX2-2 NEUROD1 FOXA2

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 nucleus GO:0005634 9.86 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
2 chromatin GO:0000785 9.47 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
3 inward rectifying potassium channel GO:0008282 9.16 KCNJ11 ABCC8

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.24 RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
2 cell differentiation GO:0030154 10.16 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 PDX1 NKX6-2 NKX6-1 NEUROG3 GATA6 CNOT1
4 positive regulation of transcription, DNA-templated GO:0045893 10.15 RFX6 PTF1A PDX1 NEUROG3 NEUROD1 HNF1B
5 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
6 regulation of transcription by RNA polymerase II GO:0006357 10.1 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
7 response to drug GO:0042493 10.01 PDX1 NKX6-1 NEUROD1 KCNJ11 HNF1B GATA6
8 regulation of transcription, DNA-templated GO:0006355 10 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
9 glucose homeostasis GO:0042593 9.96 RFX6 PDX1 NEUROD1 INS GCK
10 cell fate commitment GO:0045165 9.92 PTF1A ONECUT1 NEUROD1 GATA6 GATA4
11 positive regulation of neuron differentiation GO:0045666 9.89 NKX6-1 NKX2-2 NEUROG3 NEUROD1
12 liver development GO:0001889 9.88 PDX1 ONECUT1 HNF1B GATA6
13 glucose metabolic process GO:0006006 9.88 PDX1 ONECUT1 KCNJ11 INS GCK
14 positive regulation of cell differentiation GO:0045597 9.87 NKX2-2 NEUROG3 NEUROD1 INS
15 response to glucose GO:0009749 9.85 PDX1 NKX2-2 NEUROD1
16 regulation of insulin secretion GO:0050796 9.85 RFX6 NKX6-1 NEUROD1 KCNJ11 GCK ABCC8
17 smoothened signaling pathway GO:0007224 9.84 PDX1 NKX6-1 NKX2-2
18 cellular response to glucose stimulus GO:0071333 9.83 NEUROD1 KCNJ11 GATA4
19 neurogenesis GO:0022008 9.83 NKX6-1 NEUROG3 NEUROD1
20 positive regulation of insulin secretion GO:0032024 9.8 PDX1 NKX6-1 GCK
21 insulin secretion GO:0030073 9.79 PDX1 NEUROD1 HNF1B
22 hindbrain development GO:0030902 9.75 PTF1A NEUROG3 NEUROD1
23 type B pancreatic cell differentiation GO:0003309 9.73 RFX6 PDX1 NKX6-1 GATA6
24 transdifferentiation GO:0060290 9.72 PDX1 NEUROG3 GATA4
25 cardiac muscle cell differentiation GO:0055007 9.69 GATA6 GATA4
26 negative regulation of gluconeogenesis GO:0045721 9.69 INS GCK
27 detection of glucose GO:0051594 9.69 PDX1 NKX6-1 GCK
28 nitric oxide mediated signal transduction GO:0007263 9.68 PDX1 NEUROD1
29 inorganic cation transmembrane transport GO:0098662 9.68 KCNJ11 ABCC8
30 positive regulation of glycogen biosynthetic process GO:0045725 9.68 INS GCK
31 type B pancreatic cell development GO:0003323 9.68 NKX6-1 NKX2-2
32 intestinal epithelial cell differentiation GO:0060575 9.67 GATA6 GATA4
33 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.65 PDX1 NEUROD1
34 positive regulation of cardioblast differentiation GO:0051891 9.65 GATA6 GATA4
35 positive regulation of glial cell differentiation GO:0045687 9.64 NKX6-2 NKX6-1
36 amacrine cell differentiation GO:0035881 9.64 PTF1A NEUROD1
37 exocrine pancreas development GO:0031017 9.63 PTF1A PDX1
38 negative regulation of glial cell differentiation GO:0045686 9.62 NKX6-2 NKX6-1
39 pancreatic A cell differentiation GO:0003310 9.62 RFX6 GATA6
40 pancreatic PP cell fate commitment GO:0003329 9.61 NKX2-2 NEUROD1
41 pancreatic A cell fate commitment GO:0003326 9.6 NKX2-2 NEUROD1
42 pancreas development GO:0031016 9.43 PTF1A PDX1 ONECUT1 NKX6-1 HNF1B GATA6
43 endocrine pancreas development GO:0031018 9.36 RFX6 PDX1 ONECUT1 NKX6-2 NKX6-1 NKX2-2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.17 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
2 sequence-specific double-stranded DNA binding GO:1990837 10.02 PTF1A PDX1 ONECUT1 NKX6-2 NEUROD1 MNX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.97 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
4 sequence-specific DNA binding GO:0043565 9.96 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2 NEUROD1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.95 RFX6 PTF1A ONECUT1 NKX2-2 NEUROG3 NEUROD1
6 chromatin binding GO:0003682 9.93 PTF1A PDX1 ONECUT1 NKX6-1 NEUROD1 GATA6
7 transcription factor binding GO:0008134 9.91 PDX1 NKX2-2 NEUROD1 GATA6 GATA4 FOXA2
8 transcription regulatory region sequence-specific DNA binding GO:0000976 9.81 RFX6 GATA6 GATA4 FOXA2
9 DNA-binding transcription factor activity GO:0003700 9.73 RFX6 PDX1 ONECUT1 NKX6-2 NKX6-1 NKX2-2
10 proximal promoter sequence-specific DNA binding GO:0000987 9.67 NKX2-2 HNF1B GATA4
11 cation-transporting ATPase activity GO:0019829 9.52 KCNJ11 ABCC8
12 ATP-activated inward rectifier potassium channel activity GO:0015272 9.48 KCNJ11 ABCC8
13 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.47 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1

Sources for Pancreatic Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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