PAGEN1
MCID: PNC106
MIFTS: 50

Pancreatic Agenesis 1 (PAGEN1)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Pancreatic Agenesis 1

MalaCards integrated aliases for Pancreatic Agenesis 1:

Name: Pancreatic Agenesis 1 57 74 72
Pancreatic Diseases 44 72
Pagen1 57 74
Pagen 57 74
Pancreatic Hypoplasia, Congenital 57
Congenital Pancreatic Hypoplasia 74
Pancreatic Agenesis, Congenital 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some patients have subclinical exocrine pancreatic deficiency


HPO:

32
pancreatic agenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D010182
UMLS 72 C0030286 C1850096 C3891828

Summaries for Pancreatic Agenesis 1

UniProtKB/Swiss-Prot : 74 Pancreatic agenesis 1: A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency.

MalaCards based summary : Pancreatic Agenesis 1, also known as pancreatic diseases, is related to pancreas disease and recurrent acute pancreatitis, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Pancreatic Agenesis 1 is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Pancreatic secretion. The drugs Esomeprazole and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include pancreas, testes and liver, and related phenotypes are diabetes mellitus and failure to thrive

More information from OMIM: 260370 PS260370

Related Diseases for Pancreatic Agenesis 1

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 1 Pancreatic Agenesis 2

Diseases related to Pancreatic Agenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 pancreas disease 30.5 SPINK1 SCT PNLIP CFTR
2 recurrent acute pancreatitis 30.0 SPINK1 SCT CFTR
3 acute pancreatitis 29.6 SPINK1 SCT PNLIP CFTR
4 pancreatitis, hereditary 29.3 SPINK1 CFTR
5 pancreatic steatorrhea 29.1 SCT PNLIP
6 insulinoma 28.9 SCT PDX1
7 steatorrhea 28.8 SCT PNLIP CFTR
8 alcoholic pancreatitis 28.8 SPINK1 SCT CFTR
9 cystic fibrosis 28.7 SPINK1 PNLIP CFTR
10 cholangiocarcinoma 28.5 SCT PNLIP
11 pancreatitis 28.4 SPINK1 SCT PNLIP CFTR
12 exocrine pancreatic insufficiency 27.7 SPINK1 SCT PNLIP PDX1 CFTR
13 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 12.6
14 genetic pancreatic disease 12.1
15 rare pancreatic disease 12.1
16 heart defects, congenital, and other congenital anomalies 11.3
17 pancreatic agenesis 2 11.3
18 yorifuji okuno syndrome 11.3
19 pancreatic lipase deficiency 11.1
20 osmotic diarrhea 11.0
21 pancreatic cancer 10.7
22 pancreatic adenocarcinoma 10.2
23 pancreatic ductal adenocarcinoma 10.1
24 adenocarcinoma 10.1
25 liver cirrhosis 10.1
26 cholangitis 10.1
27 autoimmune pancreatitis 10.1
28 obstructive jaundice 10.1
29 panniculitis 10.1
30 cholelithiasis 10.0
31 liver disease 10.0
32 choledocholithiasis 10.0
33 alcohol dependence 10.0
34 diarrhea 10.0
35 diabetes mellitus 10.0
36 biliary tract disease 10.0
37 gallbladder disease 1 10.0
38 alcohol use disorder 10.0
39 cholecystitis 10.0
40 cystadenoma 10.0
41 varicose veins 9.9
42 inflammatory bowel disease 9.9
43 kidney disease 9.9
44 gastrointestinal system disease 9.9
45 fibrosis of extraocular muscles, congenital, 1 9.9
46 portal hypertension 9.9
47 cholestasis 9.9
48 sclerosing cholangitis 9.9
49 islet cell tumor 9.9
50 gallbladder cancer 9.9

Comorbidity relations with Pancreatic Agenesis 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Acute Pancreatitis
Cholestasis Deficiency Anemia
Hypertension, Essential Pancreatic Cancer

Graphical network of the top 20 diseases related to Pancreatic Agenesis 1:



Diseases related to Pancreatic Agenesis 1

Symptoms & Phenotypes for Pancreatic Agenesis 1

Human phenotypes related to Pancreatic Agenesis 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 failure to thrive 32 HP:0001508
3 intrauterine growth retardation 32 HP:0001511
4 exocrine pancreatic insufficiency 32 HP:0001738
5 pancreatic hypoplasia 32 HP:0002594
6 neonatal insulin-dependent diabetes mellitus 32 HP:0000857

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Endocrine Features:
neonatal insulin-dependent diabetes mellitus

Abdomen Pancreas:
exocrine pancreatic insufficiency
pancreatic agenesis or hypoplasia

Laboratory Abnormalities:
serum c-peptide and glucagon levels measurable

Clinical features from OMIM:

260370

UMLS symptoms related to Pancreatic Agenesis 1:


nausea and vomiting, constipation, abdominal pain, diarrhea, icterus, dyspepsia, heartburn, gastrointestinal gas, digestive system symptom

MGI Mouse Phenotypes related to Pancreatic Agenesis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 CFTR PDX1 PNLIP SPINK1

Drugs & Therapeutics for Pancreatic Agenesis 1

Drugs for Pancreatic Agenesis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
6
Acetaminophen Approved Phase 4 103-90-2 1983
7 Rebamipide Investigational Phase 4 90098-04-7
8 Antacids Phase 4
9 Proton Pump Inhibitors Phase 4
10 Anti-Ulcer Agents Phase 4
11 Hypnotics and Sedatives Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Antipyretics Phase 4
14
Pancrelipase Approved, Investigational Phase 3 53608-75-6
15
Scopolamine Approved, Investigational Phase 3 6533-68-2, 51-34-3 5184
16
Papaverine Approved, Investigational Phase 3 58-74-2, 61-25-6 4680
17
Ivacaftor Approved Phase 3 873054-44-5 16220172
18
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
19
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
20
Tazobactam Approved Phase 3 89786-04-9 123630
21
Cefoxitin Approved Phase 3 35607-66-0 441199
22
Cefotaxime Approved Phase 3 63527-52-6 456256 5742673
23
Piperacillin Approved Phase 3 66258-76-2 43672
24
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
25
Sufentanil Approved, Investigational Phase 2, Phase 3 56030-54-7 41693
26
Ropivacaine Approved Phase 2, Phase 3 84057-95-4 71273 175805
27
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
28
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
30
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
31
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
32 Tocotrienol Investigational Phase 3 6829-55-6
33 pancreatin Phase 3
34 Liver Extracts Phase 3
35 Antioxidants Phase 3
36 Parasympatholytics Phase 3
37 Neurotransmitter Agents Phase 3
38 Antiemetics Phase 3
39 Cholinergic Agents Phase 3
40 Muscarinic Antagonists Phase 3
41 Mydriatics Phase 3
42 Cholinergic Antagonists Phase 3
43 Phosphodiesterase Inhibitors Phase 3
44 Vasodilator Agents Phase 3
45 Bromides Phase 3
46 Drotaverin Phase 3
47 Autonomic Agents Phase 3
48 Butylscopolammonium Bromide Phase 3
49 Vitamins Phase 3
50 Protective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 105)
# Name Status NCT ID Phase Drugs
1 Prevention for Surgical Site Infection After Pancreatic Resection Unknown status NCT00661648 Phase 4
2 Rebamipide in Combination With Esomeprazole in the Management of Asian Patients With Functional Dyspepsia: a Multi-national, Randomised, Double-blind, Placebo-controlled Study Unknown status NCT02134405 Phase 4 Rebamipide;Placebo (for Esomeprazole);Esomeprazole
3 Alfentanil vs Remifentanil in Patient-controlled Sedation During ERCP.A Randomized Double-blind Study Completed NCT01350037 Phase 4 alfentanil;remifentanil
4 Randomized Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy Completed NCT00526331 Phase 4
5 A Prospective Multi-center Randomized Study of the Difference in Diagnostic Yield Between EUSFNA Needles With and Without a Side Port in Pancreatic Masses Completed NCT02092519 Phase 4
6 Role of Scheduled Intravenous Acetaminophen for Postoperative Pain Management in an Enhanced Recovery After Surgery (ERAS) Population: A Prospective, Randomized, Double-Blind and Placebo-Controlled Clinical Trial Recruiting NCT03198871 Phase 4 Acetaminophen Injectable Product;Sodium Chloride 0.9%, Intravenous
7 A Placebo Controlled, Double-Blind, Parallel, Multicenter Study of Synthetic Human Secretin (ChiRhoStim®) Administered Intravenously to Stimulate Exocrine Pancreas Fluid Secretion for Collection Via Endoscope and Laboratory Analysis of DNA Markers Completed NCT01087801 Phase 3 ChiRhoStim;Placebo
8 Drotaverine Hydrochloride Versus Hyoscine-N-butylbromide for Duodenal Antimotility During ERCP: a Prospective, Multicenter Randomized Controlled Trial Completed NCT00731198 Phase 3 Drotaverine hydrochloride;Hyoscine-N-butylbromide
9 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of VX-770 in Subjects With Cystic Fibrosis and the G551D Mutation Completed NCT00909532 Phase 3 Ivacaftor;Placebo
10 A Phase 3, 2-Part, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Pharmacokinetics, Efficacy and Safety of VX-770 in Subjects Aged 6 to 11 Years With Cystic Fibrosis and the G551D Mutation Completed NCT00909727 Phase 3 Ivacaftor;Placebo
11 Phase III Study of Efficacy of Remote Ischemic Preconditioning in Improving Outcomes in Organ Transplantation Completed NCT00975702 Phase 3
12 Effect of Antioxidant Supplementation on Pain, Antioxidant Profile and Oxidative Stress in Patients With Chronic Pancreatitis Completed NCT00319358 Phase 3
13 A Phase III Multicenter, Open Label Randomized Controlled Trial of Cefoxitin Versus Piperacillin-Tazobactam as Surgical Antibiotic Prophylaxis in Patients Undergoing Pancreatoduodenectomy Recruiting NCT03269994 Phase 3 Cefoxitin;Piperacillin-tazobactam
14 Saline Hypertonic in Preschoolers With Cystic Fibrosis and Lung Structure as Measured by Computed Tomography (CT) Recruiting NCT02950883 Phase 2, Phase 3 Active Treatment Group 7% Hypertonic Saline;Control Group 0.9% Isotonic Saline
15 A Phase III Study of BBI-608 Plus Nab-Paclitaxel With Gemcitabine in Adult Patients With Metastatic Pancreatic Adenocarcinoma Active, not recruiting NCT02993731 Phase 3 Napabucasin;Nab-paclitaxel;Gemcitabine
16 A Phase 3, Multicenter, Open-label, Randomized Study of Nab-Paclitaxel Plus Gemcitabine Versus Gemcitabine Alone as Adjuvant Therapy in Subjects With Surgically Resected Pancreatic Adenocarcinoma Active, not recruiting NCT01964430 Phase 3 nab-Paclitaxel 125 mg/m2;gemcitabine 1000 mg/m2;gemcitabine 1000 mg/m2
17 The Impact of an Epidural Anesthetic on the Consumption of Sevoflurane in Major Abdominal Surgery Not yet recruiting NCT04021264 Phase 2, Phase 3 Ropivacaine-Sufentanil;Dextrose 5
18 A Proof-of-Concept, Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of AIR DNase™in Patients With Cystic Fibrosis Previously Treated With Pulmozyme® Unknown status NCT02722122 Phase 2 AIR DNase™
19 A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study of VX-809 to Evaluate Safety, Pharmacokinetics, and Pharmacodynamics of VX-809 in Cystic Fibrosis Subjects Homozygous for the ∆F508-CFTR Gene Mutation Completed NCT00865904 Phase 2 VX-809;Placebo
20 A Global, Multi-center, Open-label, Phase 2 Study of AGS-1C4D4 Given in Combination With Gemcitabine in Subjects With Metastatic Pancreatic Cancer Completed NCT00902291 Phase 2
21 An Open-Label Phase 2 Study of AGS-1C4D4 in Pancreatic Cancer Subjects Previously Treated in Protocol 2008002 Completed NCT01608711 Phase 2
22 A Phase II Study of Gemcitabine and Nab-Paclitaxel in Combination With GDC-0449 (Hedgehog Inhibitor) in Patients With Previously Untreated Metastatic Adenocarcinoma of the Pancreas Completed NCT01088815 Phase 2 Gemcitabine, nab-Paclitaxel, GDC-0449
23 A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Study of VX-770 to Evaluate Safety, Pharmacokinetics, and Biomarkers of CFTR Activity in Cystic Fibrosis (CF) Subjects With Genotype G551D Completed NCT00457821 Phase 2 Ivacaftor 25 mg/75 mg;Ivacaftor 75 mg/150 mg;Ivacaftor 150 mg or 250 mg;Placebo
24 A Phase I/II Study of Gemcitabine, Nab-paclitaxel, Capecitabine, Cisplatin, and Irinotecan (GAX-CI) in Combination in Metastatic Pancreatic Cancer Recruiting NCT03535727 Phase 1, Phase 2 Nab-paclitaxel;Gemcitabine;Capecitabine;Cisplatin;Irinotecan;Nab-paclitaxel;Gemcitabine;Capecitabine;Cisplatin;Irinotecan
25 Evaluation of the Effect of Ocoxin-Viusid® Nutritional Supplement in the Life Quality in Patients Diagnosed With Advanced Pancreatic Adenocarcinoma. Phase II Recruiting NCT03717298 Phase 2
26 A Single-arm Phase II Trial of Intra-operative Application of HEMOPATCH to the Pancreatic Stump to Prevent Post-operative Pancreatic Fistula Following Distal Pancreatectomy Recruiting NCT03410914 Phase 2
27 Phase IIa Trial Evaluating the Safety of Intratumoral Injection of NanoPac® in Subjects With Locally Advanced Pancreatic Adenocarcinoma Recruiting NCT03077685 Phase 2 NanoPac®
28 A Trial Evaluating Escalating Doses and the Safety of Intracystic Injection of NanoPac® in Subjects With Mucinous Cystic Pancreatic Neoplasms Recruiting NCT03188991 Phase 2 NanoPac®
29 Safety and Efficacy Study of IL-10 (Tenovil TM) in the Prevention of Post-ERCP Acute Pancreatitis (Study P02580)(TERMINATED) Terminated NCT00040131 Phase 2 IL-10
30 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Safety and Efficacy of VX-770 in Subjects Aged 12 Years and Older With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation Terminated NCT00953706 Phase 2 Ivacaftor;Placebo
31 Phase II, Open Label Study of Intravenous Ascorbic Acid in Combination With Gemcitabine and Erlotinib in the Treatment of Metastatic Pancreatic Cancer Terminated NCT01555489 Phase 2 Ascorbic Acid
32 A Phase I/II Study of Sunitinib and Dacarbazine in Patients With Metastatic Melanoma Terminated NCT00496223 Phase 1, Phase 2 Sunitinib;Dacarbazine
33 Phase 1/2 Safety and Feasibility of Gemcitabine and Nab-Paclitaxel in Combination With LDE-225 as Neoadjuvant Therapy in Patients With Borderline Resectable Pancreatic Adenocarcinoma. Terminated NCT01431794 Phase 1, Phase 2 LDE225-600mg;Gemcitabine;nab-paclitaxel;LDE225-400mg;LDE225-800mg
34 A Multicenter Phase II Open Study Coupled With a Translational Assessment of Biomarkers Predictive of Response to Sunitinib in Patients With Poorly-differentiated Advanced/Inoperable NEURO-Endocrine Tumors. Terminated NCT01215578 Phase 2 Sutent
35 A Randomised, Double-blind, Placebo-controlled Dose-escalation Phase I Study to Evaluate the Safety and Tolerability of Inhaled Aerosolised OligoG CF-5/20 (G-block Oligosaccharide Derived From Alginate Polysaccharide) in Healthy Volunteers Completed NCT00970346 Phase 1 OligoG CF-5/20
36 89Zr-MMOT0530A PET Imaging in Patients With Unresectable Pancreatic or Platinum-resistant Ovarian Cancer Before Treatment With DMOT4039A. A Separate Study to the Phase I Study Protocol DMO4993g Completed NCT01832116 Phase 1 89Zr-MMOT0530A
37 Remote Telemonitoring to Improve Prehabilitation and Surgical Outcomes of Patients Undergoing Pancreatic Resection Recruiting NCT03706963 Phase 1
38 A Phase Ib Clinical Study of BBI608 in Combination With Standard Chemotherapies in Adult Patients With Metastatic Pancreatic Adenocarcinoma Active, not recruiting NCT02231723 Phase 1 BBI608;Nab-paclitaxel;Gemcitabine;Oxaliplatin;Leucovorin;Irinotecan;Fluorouracil;MM-398
39 RG1068 (Synthetic Human Secretin) Enhanced Multidetector CT Pancreatography: Evaluation of the Pancreatic Duct in Patients With Known or Suspected Chronic Pancreatitis Terminated NCT00620919 Phase 1 RG1068 (Synthetic Human Secretin)
40 Special Investigation (All Cases) of LipaCreon in Patients With Pancreatic Exocrine Insufficiency Due to Cystic Fibrosis Unknown status NCT01427712
41 Zhujiang Hospital of the Southern Medical University Unknown status NCT03074708
42 A Network on the Quality of ERCP, on the Organization of the Endoscopic Units and on the Training of the Endoscopists in Italy Unknown status NCT02971579
43 Effectiveness of Metal Protheses Covered in "Diabolo" in Treatment of Necrosis of Origin Pancreatic: Trial "DIABOLOPIG" Unknown status NCT02739074
44 Cell-free DNA Promoter Hypermethylation in Plasma From Patients With Pancreatic Adenocarcinoma, Compared to Patients With Pancreatitis and Pancreatitis and Patients Screened for, But Not Having Pancreatic Adenocarcinoma." Unknown status NCT02079363
45 Comparative Study Between Minimally Invasive Pancreatico-duodenectomy and Open Pancreatico-duodenectomy for Periampullary Tumors Unknown status NCT02807701
46 Benefit of Tight Glycemic Control in Surgical Patients: Prospective Randomized Clinical Trial Unknown status NCT00735228
47 Endoscopic Retrograde Cholangiopancreatography, Endoscopic Ultrasound and Interventional Endoscopy in Pancreatico-biliary, Gastrointestinal and Esophageal Disorders Unknown status NCT01438385
48 Comparison Between Continuous Infusion and Intermittent Bolus Injection of Propofol for Deep Sedation During Endoscopic Retrograde Cholangiopancreatography: a Prospective Randomized Controlled Study Unknown status NCT01900938 Midazolam;Propofol
49 A Prospective, Multicentric, Randomized Trial Comparing Early Enteral Nutrition Versus Parenteral Nutrition After Pancreaticoduodenectomy Unknown status NCT01580527
50 Special Investigation of LipaCreon on Long-term Use in Patients With Pancreatic Exocrine Insufficiency Due to Chronic Pancreatitis, Pancreatectomy and Other Conditions Except Cystic Fibrosis Completed NCT01427725

Search NIH Clinical Center for Pancreatic Agenesis 1

Cochrane evidence based reviews: pancreatic diseases

Genetic Tests for Pancreatic Agenesis 1

Anatomical Context for Pancreatic Agenesis 1

MalaCards organs/tissues related to Pancreatic Agenesis 1:

41
Pancreas, Testes, Liver, Kidney, Spleen, Lung, Thyroid

Publications for Pancreatic Agenesis 1

Articles related to Pancreatic Agenesis 1:

(show top 50) (show all 2294)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 8 71
20621032 2010
2
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 8 71
20009086 2010
3
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 8 71
19496967 2009
4
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 8 71
12970316 2003
5
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 8 71
9326926 1997
6
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 8 71
8988180 1997
7
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 8 71
8506821 1993
8
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 71
9649577 1998
9
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. 8
8462806 1993
10
Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency. 8
3746536 1986
11
Permanent neonatal diabetes in an infant of an insulin-dependent mother. 8
7045311 1982
12
Long-term survival in a case of functional pancreatic agenesis. 8
7000995 1980
13
Congenital absence of the pancreas and intrauterine growth retardation. 8
471619 1979
14
Agenesis of pancreas and gall-bladder in an infant of incest. 8
1027315 1976
15
[Agenesia of the pancreas. Anatomo-clinical observations of a case of diabetes mellitus, with steatorrhea and hypotrophy, in a newborn infant]. 8
5802058 1969
16
Diagnosis of chronic pancreatitis: Functional testing. 9 38
20510825 2010
17
Exocrine pancreatic function assessed by secretin cholangio-Wirsung magnetic resonance imaging. 9 38
18397857 2008
18
CEA, CA 19-9, and CA 125 in the differential diagnosis of benign and malignant pancreatic diseases with or without jaundice. 9 38
17262731 2007
19
Secretin-stimulated MRCP. 9 38
16465582 2006
20
[Hyperamylasemia, laboratory and clinical aspects]. 9 38
16835996 2006
21
Significance of serum receptor-binding cancer antigen (RCAS1) in pancreatic cancer and benign pancreatobiliary diseases. 9 38
16636598 2006
22
The role of S100A6 in pancreatic cancer development and its clinical implication as a diagnostic marker and therapeutic target. 9 38
16278400 2005
23
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. 9 38
16199544 2005
24
Novel serum tumor marker, RCAS1, in pancreatic diseases. 9 38
16127752 2005
25
The clinical value of serum CEA, CA19-9, and CA242 in the diagnosis and prognosis of pancreatic cancer. 9 38
15698733 2005
26
Clinical endocrinology and metabolism. Cholecystokinin. 9 38
15533776 2004
27
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. 9 38
12952861 2003
28
UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer. 9 38
12806614 2003
29
Overexpression of pancreatitis-associated protein (PAP) in human pancreatic ductal adenocarcinoma. 9 38
12757156 2003
30
The relationship between loss expression of DPC4/Smad4 gene and carcinogenesis of pancreatobiliary carcinoma. 9 38
14607700 2002
31
[Fecal elastase-1 test: clinical evaluation of a new noninvasive pancreatic function test]. 9 38
12386968 2002
32
SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report. 9 38
12120202 2001
33
Pancreatitis-associated protein levels in pancreatic juice from patients with pancreatic diseases. 9 38
12120267 2001
34
Significance of K-ras mutation and CEA level in pancreatic juice in the diagnosis of pancreatic cancer. 9 38
10982594 2000
35
In vitro effects of ethanol on human gastric and pancreatic lipolytic activities/enzymes. 9 38
8658037 1996
36
Serum levels of six pancreatic enzymes as related to the degree of renal dysfunction. 9 38
7485010 1995
37
Carbachol and cholecystokinin enhance accumulation of nicotine in rat pancreatic acinar cells. 9 38
7716140 1995
38
Simultaneous determinations of pancreatic phospholipase A2 and prophospholipase A2 in various pancreatic diseases. 9 38
8444083 1993
39
The relationship between the development of alcoholic liver and pancreatic diseases and the induction of gamma glutamyl transferase. 9 38
7911669 1993
40
Urinary phospholipase A2 excretion in chronic pancreatic diseases. 9 38
1517657 1992
41
Serum protease inhibitor capacity for elastase and the severity of pancreatitis. 9 38
1280365 1992
42
[Analytic methods of pancreatic lipase for diagnosis of pancreatic diseases]. 9 38
1895517 1991
43
Evaluation of CEA, CA 19-9, CA-50, CA-195, and TATI with special reference to pancreatic disorders. 9 38
1791319 1991
44
[Isoelectric focusing of pure human pancreatic juice. 1. Examination of patients with and without pancreatic diseases]. 9 38
2068865 1991
45
Tumor-associated trypsin inhibitor in pancreatic diseases. 9 38
1723534 1991
46
Serum phospholipase A2 activity in chronic pancreatic diseases. 9 38
1695558 1990
47
Renal handling of amylase and immunoreactive trypsin in pancreatic cancer and chronic pancreatitis. 9 38
1691065 1990
48
Fruit and vegetable consumption and health outcomes: an umbrella review of observational studies. 38
30764679 2019
49
Management of pancreatic exocrine insufficiency. 38
31219829 2019
50
Ultrasound diagnosis of pancreatic solid tumors. 38
31420821 2019

Variations for Pancreatic Agenesis 1

ClinVar genetic disease variations for Pancreatic Agenesis 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDX1 PDX1, 1-BP DEL, 188C deletion Pathogenic
2 PDX1 NM_000209.4(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 13:28498478-28498478 13:27924341-27924341
3 PDX1 NM_000209.4(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 13:28498518-28498518 13:27924381-27924381
4 PDX1 NM_000209.4(PDX1): c.188del (p.Pro63fs) deletion Pathogenic rs193929377 13:28494463-28494463 13:27920326-27920326
5 PDX1 NM_000209.4(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 13:28498519-28498519 13:27924382-27924382
6 PDX1 NM_000209.4(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic rs1555241857 13:28498488-28498488 13:27924351-27924351

Expression for Pancreatic Agenesis 1

Search GEO for disease gene expression data for Pancreatic Agenesis 1.

Pathways for Pancreatic Agenesis 1

Pathways related to Pancreatic Agenesis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 PDX1 CFTR
2 10.63 PNLIP CFTR

GO Terms for Pancreatic Agenesis 1

Biological processes related to Pancreatic Agenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.96 PDX1 CFTR
2 sperm capacitation GO:0048240 8.62 SPINK1 CFTR

Sources for Pancreatic Agenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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