PAGEN1
MCID: PNC106
MIFTS: 51

Pancreatic Agenesis 1 (PAGEN1)

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

Aliases & Classifications for Pancreatic Agenesis 1

MalaCards integrated aliases for Pancreatic Agenesis 1:

Name: Pancreatic Agenesis 1 57 72 29 6 70
Pancreatic Diseases 44 70
Pagen1 57 72
Pagen 57 72
Pancreatic Hypoplasia, Congenital 57
Congenital Pancreatic Hypoplasia 72
Pancreatic Agenesis, Congenital 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients have subclinical exocrine pancreatic deficiency


HPO:

31
pancreatic agenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 260370
OMIM Phenotypic Series 57 PS260370
MeSH 44 D010182
UMLS 70 C0030286 C1850096 C3891828

Summaries for Pancreatic Agenesis 1

UniProtKB/Swiss-Prot : 72 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 acute pancreatitis and pancreatitis, hereditary, 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 Salivary secretion. The drugs Propofol and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include pancreas, liver and spleen, and related phenotypes are failure to thrive and diabetes mellitus

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 149)
# Related Disease Score Top Affiliating Genes
1 acute pancreatitis 29.8 SPINK1 SCT PNLIP CFTR
2 pancreatitis, hereditary 29.6 SPINK1 SCT CFTR
3 pancreatic cancer 29.6 SPINK1 SCT PDX1 CFTR
4 pancreatic cystadenoma 29.5 SCT PDX1
5 pancreatic steatorrhea 29.5 SCT PNLIP
6 duodenal obstruction 29.4 SPINK1 SCT
7 insulinoma 29.4 SCT PDX1
8 pancreatitis 29.2 SPINK1 SCT PNLIP CFTR
9 alcoholic pancreatitis 29.2 SPINK1 SCT CFTR
10 diarrhea 29.2 SCT CFTR
11 prss1-related hereditary pancreatitis 29.1 SPINK1 CFTR
12 exocrine pancreatic insufficiency 28.9 SPINK1 SCT PNLIP PDX1 CFTR
13 biliary dyskinesia 28.8 SPINK1 SCT CFTR
14 diabetes mellitus 28.4 SPINK1 SCT PNLIP PDX1 CFTR
15 type 2 diabetes mellitus 28.0 SPINK1 SCT PNLIP PDX1 CFTR
16 pancreas disease 11.4
17 heart defects, congenital, and other congenital anomalies 11.2
18 pancreatic agenesis 2 11.2
19 adenocarcinoma 10.2
20 liver cirrhosis 10.2
21 autoimmune pancreatitis 10.2
22 pancreatic adenocarcinoma 10.2
23 cholelithiasis 10.1
24 pancreatic ductal adenocarcinoma 10.1
25 inflammatory bowel disease 10.1
26 choledocholithiasis 10.1
27 cystadenoma 10.1
28 gastrointestinal system disease 10.1
29 obstructive jaundice 10.1
30 alcohol use disorder 10.1
31 cystic fibrosis 10.0
32 islet cell tumor 10.0
33 gallbladder cancer 10.0
34 ovarian serous cystadenocarcinoma 10.0
35 panniculitis 10.0
36 cholecystitis 10.0
37 bile duct cancer 10.0
38 adenoma 10.0
39 cholangitis 10.0
40 celiac disease 1 9.9
41 cholestasis 9.9
42 teratoma 9.9
43 liver disease 9.9
44 chronic kidney disease 9.9
45 multiple endocrine neoplasia, type i 9.9 SCT PDX1
46 neutropenia 9.9
47 pancreas, annular 9.8
48 varicose veins 9.8
49 type 1 diabetes mellitus 9.8
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 diabetes mellitus 31 HP:0000819
3 intrauterine growth retardation 31 HP:0001511
4 exocrine pancreatic insufficiency 31 HP:0001738
5 pancreatic hypoplasia 31 HP:0002594
6 neonatal insulin-dependent diabetes mellitus 31 HP:0000857

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Pancreatic Agenesis 1:


nausea and vomiting; constipation; abdominal pain; diarrhea; dyspepsia; icterus; 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 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
5
Remifentanil Approved Phase 4 132875-61-7 60815
6 Analgesics Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Narcotics Phase 4
9 Analgesics, Opioid Phase 4
10 Hypnotics and Sedatives Phase 4
11 Anesthetics, General Phase 4
12 Anesthetics, Intravenous Phase 4
13 Antipyretics Phase 4
14
Secretin Approved Phase 3 108153-74-8
15
Scopolamine Approved, Investigational Phase 3 51-34-3, 6533-68-2 5184
16
Sufentanil Approved, Investigational Phase 2, Phase 3 56030-54-7 41693
17
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
18
Ropivacaine Approved Phase 2, Phase 3 84057-95-4 71273 175805
19
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
20
Cefoxitin Approved Phase 3 35607-66-0 441199
21
Cefotaxime Approved Phase 3 63527-52-6 456256 5742673
22
Tazobactam Approved Phase 3 89786-04-9 123630
23
Piperacillin Approved Phase 3 66258-76-2 43672
24
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
25
Gemcitabine Approved Phase 3 95058-81-4 60750
26
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
27 Liver Extracts Phase 3
28 Gastrointestinal Agents Phase 3
29 Vasodilator Agents Phase 3
30 Parasympatholytics Phase 3
31 Antiemetics Phase 3
32 Cholinergic Agents Phase 3
33 Mydriatics Phase 3
34 Drotaverin Phase 3
35 Muscarinic Antagonists Phase 3
36 Bromides Phase 3
37 Butylscopolammonium Bromide Phase 3
38 Cholinergic Antagonists Phase 3
39 Anesthetics Phase 3
40 Pharmaceutical Solutions Phase 2, Phase 3
41 Anesthetics, Local Phase 2, Phase 3
42 Piperacillin, Tazobactam Drug Combination Phase 3
43 beta-Lactamase Inhibitors Phase 3
44 Tubulin Modulators Phase 3
45 Antimitotic Agents Phase 3
46 Albumin-Bound Paclitaxel Phase 3
47 Immunologic Factors Phase 3
48 Immunosuppressive Agents Phase 3
49 Antiviral Agents Phase 3
50 Antimetabolites Phase 3

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 Prevention for Surgical Site Infection After Pancreatic Resection Unknown status NCT00661648 Phase 4
2 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 Completed NCT03198871 Phase 4 Acetaminophen Injectable Product;Sodium Chloride 0.9%, Intravenous
3 Alfentanil vs Remifentanil in Patient-controlled Sedation During ERCP.A Randomized Double-blind Study Completed NCT01350037 Phase 4 alfentanil;remifentanil
4 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
5 Randomized Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy Completed NCT00526331 Phase 4
6 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
7 Phase III Study of Efficacy of Remote Ischemic Preconditioning in Improving Outcomes in Organ Transplantation Completed NCT00975702 Phase 3
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 The Impact of an Epidural Anesthetic on the Consumption of Sevoflurane in Major Abdominal Surgery Recruiting NCT04021264 Phase 2, Phase 3 Ropivacaine-Sufentanil;Dextrose 5
10 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
11 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;Gemcitabine
12 Randomized Control Trial Comparing Somatostatin Analogues With Perioperative Antibiotics Versus Prolonged Antibiotics Enrolling by invitation NCT04329039 Phase 2, Phase 3 Somatostatin analog
13 A Trial Evaluating Escalating Doses and the Safety of Intracystic Injection of NanoPac® in Subjects With Mucinous Cystic Pancreatic Neoplasms Completed NCT03188991 Phase 2 NanoPac®
14 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
15 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 Completed NCT03410914 Phase 2
16 An Open-Label Phase 2 Study of AGS-1C4D4 in Pancreatic Cancer Subjects Previously Treated in Protocol 2008002 Completed NCT01608711 Phase 2
17 Phase IIa Trial Evaluating the Safety of Intratumoral Injection of NanoPac® in Subjects With Locally Advanced Pancreatic Adenocarcinoma Recruiting NCT03077685 Phase 2 NanoPac®
18 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
19 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
20 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
21 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
22 Zhujiang Hospital of the Southern Medical University Unknown status NCT03074708
23 Assessment of Cholangio-pancreatoscopy for the Diagnosis and the Treatment of Biliary and Pancreatic Diseases Trial " EASYSPY " Unknown status NCT03190343
24 Effectiveness of Metal Protheses Covered in "Diabolo" in Treatment of Necrosis of Origin Pancreatic: Trial "DIABOLOPIG" Unknown status NCT02739074
25 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
26 The Effect of Preoperative Long Period Octreotide Combined With Postoperative Short Period Octreotide on the Complications After Pancreatectomy. A Prospective, Multicenter Clinical Trial Unknown status NCT03398941 Preoperative Long Period Octreotide Combined With Postoperative Short Period Octreotide
27 The Effect of Doctor-nurse-patient Cooperative Analgesic Linkage Program on Movement Evoked Pain After Laparotomy for Patients With Hepatobiliary and Pancreatic Disease Unknown status NCT03823846 Routine Dezocine injection;Adjusted Dezocine injection;Routine Dynastat or Flurbiprofen Axetil jinjection;Adjusted Dynastat or Flurbiprofen Axetil jinjection;normal analgesia pump administration;adjusted analgesia pump administration
28 Benefit of Tight Glycemic Control in Surgical Patients: Prospective Randomized Clinical Trial Unknown status NCT00735228
29 A Prospective, Multicentric, Randomized Trial Comparing Early Enteral Nutrition Versus Parenteral Nutrition After Pancreaticoduodenectomy Unknown status NCT01580527
30 Enhanced Recovery After Surgery for Hepatobiliary-Pancreatic Surgery Unknown status NCT03772392
31 Endoscopic Retrograde Cholangiopancreatography, Endoscopic Ultrasound and Interventional Endoscopy in Pancreatico-biliary, Gastrointestinal and Esophageal Disorders Unknown status NCT01438385
32 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
33 A Prospective Study to Evaluate the Outcome of Liver, Pancreas and Thyroid Function in Severely Burned Patients Unknown status NCT03598283
34 Remote Ischemic Conditioning (RIC) to Decrease Post-Operative Complications After Major Abdominal Surgery - A Phase IIa Trial Unknown status NCT03234543
35 Indications and Outcomes of Gastrointestinal Endoscopic Ultrasound in Tanta-Egypt: Initial Experience. Unknown status NCT03267355
36 Special Investigation (All Cases) of LipaCreon in Patients With Pancreatic Exocrine Insufficiency Due to Cystic Fibrosis Unknown status NCT01427712
37 A Network on the Quality of ERCP, on the Organization of the Endoscopic Units and on the Training of the Endoscopists in Italy Completed NCT02971579
38 Safety and Efficacy of the New 20 mm Lumen Apposing Metal Stent (Lams) for Endoscopic Treatment of Pancreatic and Peripancreatic Fluid Collections: a Large, International, Multicenter Study Completed NCT03578770
39 A Prospective, Single Arm Study to Evaluate the Feasibility of the Archimedes Biodegradable Biliary and Pancreatic Stents Placement Completed NCT03767166
40 Use of Serum Proteome on the Early Diagnosis of Malignant Biliary-Pancreatic Disease Completed NCT00559598
41 Magnetic Resonance Cholangio-pancreatography (MRCP) for Suspected Bilio-pancreatic Disease: Should the Endoscopist Take a Second Look? Completed NCT01538368
42 Early (4 Days) Versus Standard Drainage Removal of the Abdominal Cavity After Pancreaticoduodenectomy- - A Randomized Multicenter Study Completed NCT01368094
43 A Pilot Study Evaluating Health-related Quality of Life Endpoints in Patients Undergoing Minimally Invasive Versus Open Pancreaticoduodenectomy Completed NCT02638818
44 Evaluation of Combined Endoscopic Ultrasound Ductal Evaluation Before & After Secretin Stimulation in One EUS Session for the Diagnosis of Exocrine Pancreas Disease Completed NCT01997476
45 Influence of the Endoscopist Case Volumen on Endoscopic Retrograde CholangioPanceratography Outcomes Completed NCT04705740
46 Comparison of Confocal Laser Endomicroscopic IN Vivo Diagnosis and EX Vivo Examination (INDEX Study) Against Surgical Histopathology of Cystic Pancreatic Lesions Completed NCT02516488
47 Screening of Postoperative Pulmonary Complications by Electrical Impedance Tomography in Intensive Care Patients Undergoing Epigastric Surgery Completed NCT02337673
48 Single-operator Wire-guided ERCP Cannulation Technique: a Single-center Randomized Controlled Study Completed NCT01598142
49 Biospecimens for the Early Detection, Prevention, Diagnosis and Treatment of Diseases of the Pancreas. Completed NCT01392027
50 The Impact of Non-Alcoholic Fatty Pancreas Disease on Outcome of Acute Pancreatitis Completed NCT03394378

Search NIH Clinical Center for Pancreatic Agenesis 1

Cochrane evidence based reviews: pancreatic diseases

Genetic Tests for Pancreatic Agenesis 1

Genetic tests related to Pancreatic Agenesis 1:

# Genetic test Affiliating Genes
1 Pancreatic Agenesis 1 29 PDX1

Anatomical Context for Pancreatic Agenesis 1

MalaCards organs/tissues related to Pancreatic Agenesis 1:

40
Pancreas, Liver, Spleen, Kidney, Thyroid, Pancreatic Islet, Neutrophil

Publications for Pancreatic Agenesis 1

Articles related to Pancreatic Agenesis 1:

(show top 50) (show all 2472)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 57 6
20621032 2010
2
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 6 57
20009086 2010
3
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 57 6
19496967 2009
4
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 57 6
12970316 2003
5
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 6 57
9326926 1997
6
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 6 57
8988180 1997
7
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 57 6
8506821 1993
8
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 6
9649577 1998
9
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. 57
8462806 1993
10
Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency. 57
3746536 1986
11
Permanent neonatal diabetes in an infant of an insulin-dependent mother. 57
7045311 1982
12
Long-term survival in a case of functional pancreatic agenesis. 57
7000995 1980
13
Congenital absence of the pancreas and intrauterine growth retardation. 57
471619 1979
14
Agenesis of pancreas and gall-bladder in an infant of incest. 57
1027315 1976
15
[Agenesia of the pancreas. Anatomo-clinical observations of a case of diabetes mellitus, with steatorrhea and hypotrophy, in a newborn infant]. 57
5802058 1969
16
Diagnosis of chronic pancreatitis: Functional testing. 61 54
20510825 2010
17
Exocrine pancreatic function assessed by secretin cholangio-Wirsung magnetic resonance imaging. 61 54
18397857 2008
18
CEA, CA 19-9, and CA 125 in the differential diagnosis of benign and malignant pancreatic diseases with or without jaundice. 54 61
17262731 2007
19
Secretin-stimulated MRCP. 61 54
16465582 2006
20
Significance of serum receptor-binding cancer antigen (RCAS1) in pancreatic cancer and benign pancreatobiliary diseases. 61 54
16636598 2006
21
[Hyperamylasemia, laboratory and clinical aspects]. 61 54
16835996 2006
22
The role of S100A6 in pancreatic cancer development and its clinical implication as a diagnostic marker and therapeutic target. 61 54
16278400 2005
23
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. 54 61
16199544 2005
24
Novel serum tumor marker, RCAS1, in pancreatic diseases. 61 54
16127752 2005
25
The clinical value of serum CEA, CA19-9, and CA242 in the diagnosis and prognosis of pancreatic cancer. 61 54
15698733 2005
26
Clinical endocrinology and metabolism. Cholecystokinin. 61 54
15533776 2004
27
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. 54 61
12952861 2003
28
UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer. 54 61
12806614 2003
29
Overexpression of pancreatitis-associated protein (PAP) in human pancreatic ductal adenocarcinoma. 54 61
12757156 2003
30
The relationship between loss expression of DPC4/Smad4 gene and carcinogenesis of pancreatobiliary carcinoma. 61 54
14607700 2002
31
[Fecal elastase-1 test: clinical evaluation of a new noninvasive pancreatic function test]. 54 61
12386968 2002
32
Pancreatitis-associated protein levels in pancreatic juice from patients with pancreatic diseases. 61 54
12120267 2001
33
SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report. 54 61
12120202 2001
34
Significance of K-ras mutation and CEA level in pancreatic juice in the diagnosis of pancreatic cancer. 54 61
10982594 2000
35
In vitro effects of ethanol on human gastric and pancreatic lipolytic activities/enzymes. 54 61
8658037 1996
36
Serum levels of six pancreatic enzymes as related to the degree of renal dysfunction. 61 54
7485010 1995
37
Carbachol and cholecystokinin enhance accumulation of nicotine in rat pancreatic acinar cells. 61 54
7716140 1995
38
Simultaneous determinations of pancreatic phospholipase A2 and prophospholipase A2 in various pancreatic diseases. 61 54
8444083 1993
39
The relationship between the development of alcoholic liver and pancreatic diseases and the induction of gamma glutamyl transferase. 54 61
7911669 1993
40
Urinary phospholipase A2 excretion in chronic pancreatic diseases. 61 54
1517657 1992
41
Serum protease inhibitor capacity for elastase and the severity of pancreatitis. 61 54
1280365 1992
42
[Analytic methods of pancreatic lipase for diagnosis of pancreatic diseases]. 61 54
1895517 1991
43
Evaluation of CEA, CA 19-9, CA-50, CA-195, and TATI with special reference to pancreatic disorders. 54 61
1791319 1991
44
Tumor-associated trypsin inhibitor in pancreatic diseases. 54 61
1723534 1991
45
[Isoelectric focusing of pure human pancreatic juice. 1. Examination of patients with and without pancreatic diseases]. 54 61
2068865 1991
46
Serum phospholipase A2 activity in chronic pancreatic diseases. 61 54
1695558 1990
47
Renal handling of amylase and immunoreactive trypsin in pancreatic cancer and chronic pancreatitis. 61 54
1691065 1990
48
Pancreatic Cancer-Associated Diabetes is Clinically Distinguishable From Conventional Diabetes. 61
33453685 2021
49
Deoxyhypusine synthase, an essential enzyme for hypusine biosynthesis, is required for proper exocrine pancreas development. 61
33811703 2021
50
Pancreas segmentation using a dual-input v-mesh network. 61
33550009 2021

Variations for Pancreatic Agenesis 1

ClinVar genetic disease variations for Pancreatic Agenesis 1:

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 PDX1 NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) SNV Pathogenic 30124 rs387906777 GRCh37: 13:28498519-28498519
GRCh38: 13:27924382-27924382
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.188del (p.Pro63fs) Deletion Pathogenic 21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
7 PDX1 NM_000209.4(PDX1):c.502A>C (p.Asn168His) SNV Likely pathogenic 436282 rs1555241857 GRCh37: 13:28498488-28498488
GRCh38: 13:27924351-27924351
8 CFTR NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) SNV not provided 35839 rs1800076 GRCh37: 7:117149147-117149147
GRCh38: 7:117509093-117509093

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 11.28 PDX1 CFTR
2
Show member pathways
11.23 SCT PNLIP CFTR
3 10.91 SCT 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 response to nutrient levels GO:0031667 9.16 SCT PDX1
2 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.96 PDX1 CFTR
3 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
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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