PAGEN1
MCID: PNC106
MIFTS: 37

Pancreatic Agenesis 1 (PAGEN1) malady

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

Aliases & Classifications for Pancreatic Agenesis 1

Aliases & Descriptions for Pancreatic Agenesis 1:

Name: Pancreatic Agenesis 1 54 24 66 69
Pancreatic Diseases 42 69
Pagen1 24 66
Congenital Pancreatic Hypoplasia 66
Pancreatic Agenesis, Congenital 69
Pagen 66

Characteristics:

HPO:

32
pancreatic agenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 260370
MedGen 40 C1850096
MeSH 42 D010182

Summaries for Pancreatic Agenesis 1

UniProtKB/Swiss-Prot : 66 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 infantile-onset multisystem neurologic, endocrine, and pancreatic disease and pancreatic agenesis and congenital heart defects, and has symptoms including failure to thrive, exocrine pancreatic insufficiency and intrauterine growth retardation. 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 Pancrelipase and Secretin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotype is digestive/alimentary.

Description from OMIM: 260370

Related Diseases for Pancreatic Agenesis 1

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 2 Pancreatic Agenesis 1

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

(show all 39)
id Related Disease Score Top Affiliating Genes
1 infantile-onset multisystem neurologic, endocrine, and pancreatic disease 12.0
2 pancreatic agenesis and congenital heart defects 10.9
3 yorifuji okuno syndrome 10.9
4 pancreatic agenesis 2 10.9
5 pancreas disease 10.6
6 osmotic diarrhea 10.6
7 pancreatic lipase deficiency 10.6
8 pancreatitis 10.3
9 ischemic heart disease 10.0 PDX1 SCT
10 recurrent acute pancreatitis 10.0
11 acute gonococcal cervicitis 10.0 PNLIP SCT
12 non-syndromic intellectual disability 9.9 CFTR PDX1
13 primary congenital glaucoma 9.8 CFTR SPINK1
14 chondroma 9.8 SCT SPINK1
15 lacrimal system cancer 9.8 PNLIP SCT SPINK1
16 cervical adenomyoma 9.8 CFTR SPINK1
17 short bowel syndrome 9.7 CFTR PNLIP SCT
18 myxofibrosarcoma 9.7 CFTR SCT SPINK1
19 acute pancreatitis 9.7
20 cystic fibrosis 9.6
21 female stress incontinence 9.6 CFTR PDX1 PNLIP SCT
22 autoimmune pancreatitis 9.5
23 panniculitis 9.5
24 dyspepsia 9.5
25 netherton syndrome 9.5 CFTR PNLIP SCT SPINK1
26 thyroid gland disease 9.5 CFTR PNLIP SCT SPINK1
27 hyperlysinemia 9.5 CFTR PNLIP SCT SPINK1
28 pancreatic cancer 9.3
29 lupus erythematosus 9.3
30 exocrine pancreatic insufficiency 9.3
31 lupus erythematosus panniculitis 9.3
32 inflammatory bowel disease 9.3
33 steatorrhea 9.3
34 obstructive jaundice 9.3
35 systemic lupus erythematosus 9.3
36 duodenal obstruction 9.3
37 ascariasis 9.3
38 duodenitis 9.3
39 fibrosis of extraocular muscles, congenital, 3c 9.3 CFTR PDX1 PNLIP SCT SPINK1

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

Symptoms by clinical synopsis from OMIM:

260370

Clinical features from OMIM:

260370

Human phenotypes related to Pancreatic Agenesis 1:

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

UMLS symptoms related to Pancreatic Agenesis 1:


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

MGI Mouse Phenotypes related to Pancreatic Agenesis 1:

44
id 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 1036)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53608-75-6
2
Secretin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 108153-74-8
3
Acetaminophen Approved Phase 4,Phase 2,Phase 1 103-90-2 1983
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Ropivacaine Approved Phase 4,Phase 2,Phase 3,Phase 1 84057-95-4 71273 175805
6
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
7
Tramadol Approved, Investigational Phase 4,Phase 2,Phase 3 27203-92-5 33741
8
Cefoperazone Approved Phase 4 62893-19-0 44185
9
Chlorhexidine Approved, Vet_approved Phase 4,Phase 2 55-56-1 9552079 2713
10
Meropenem Approved, Investigational Phase 4,Phase 1,Phase 2 119478-56-7 64778 441130
11
Metronidazole Approved Phase 4,Phase 1 443-48-1 4173
12
Somatostatin Approved Phase 4,Phase 3,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
13
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
14
lanreotide Approved Phase 4,Phase 3,Phase 2,Phase 1 108736-35-2
15
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 83150-76-9 383414 6400441
16
Ceftazidime Approved Phase 4,Phase 1 78439-06-2 5481173
17
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 32986-56-4 5496 36294
18
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
19
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1 88150-42-9 2162
20
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
21
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
22
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
23
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
24
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
25
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
27
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
28
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 104987-11-3 445643 439492
29
Liraglutide Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 204656-20-2
30
Linagliptin Approved Phase 4 668270-12-0 10096344
31
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
32
Voglibose Approved, Investigational Phase 4 83480-29-9 444020
33
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 64-17-5 702
34
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 61825-94-3 5310940 9887054 6857599, 9887054 43805
35
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2 2078-54-8 4943
36
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
37
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 3,Phase 1 59467-70-8 4192
38
Insulin Glargine Approved Phase 4,Phase 3,Phase 2 160337-95-1
39
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
40
Azithromycin Approved Phase 4,Phase 3,Phase 2 83905-01-5 55185 53477736 447043
41
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
42
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1 9041-08-1
43
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 9005-49-6 772 46507594
44
Lansoprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 103577-45-3 3883
45
Capecitabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154361-50-9 60953
46
Pioglitazone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 111025-46-8 4829
47
Saxagliptin Approved Phase 4,Phase 3 361442-04-8 11243969
48
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 141758-74-9 15991534
49
Daclizumab Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 152923-56-3
50
Cholecystokinin Approved Phase 4 9011-97-6

Interventional clinical trials:

(show top 50) (show all 4101)
id Name Status NCT ID Phase
1 Effect of an Artificial Pancreas in Patients Undergoing Pancreatic Resection Unknown status NCT00661648 Phase 4
2 Efficacy of Secretin MRCP in the Diagnosis and Follow up of Auto Immune Pancreatitis Unknown status NCT01845467 Phase 4
3 Epidural Analgesia for Pancreatitis (Epipan Study) Unknown status NCT02126332 Phase 4
4 Multi-center Clinical Study of Early Antibios of Severe Acute Pancreatitis Unknown status NCT01992198 Phase 4
5 Comparative Study About the Impact of Two Oil Emulsions Administered Intravenously on Severe Acute Pancreatitis Unknown status NCT01376817 Phase 4
6 Prospective Random Comparing Study on EUS-guided Pseudocyst Drainage by Naso-pancreatic Tube and Stents Unknown status NCT01585662 Phase 4
7 Pre-Operative Staging of Pancreatic Cancer Using Superparamagnetic Iron Oxide Magnetic Resonance Imaging (SPIO MRI) Unknown status NCT00920023 Phase 4
8 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4
9 Evaluation of EUS-Guided 22 Gauge Core Biopsy Versus Fine-needle Aspiration for Suspected Pancreatic Neoplasms Unknown status NCT01673334 Phase 4
10 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
11 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
12 Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis Unknown status NCT01044719 Phase 4
13 Additional Effects of Perioperative Immunonutrition in Patients Undergoing Pancreaticoduodenectomy Unknown status NCT01969110 Phase 4
14 Parenteral Fish Oil in Major Laparoscopic Abdominal Surgery Unknown status NCT01819961 Phase 4
15 Prophylactic Pancreatic Duct Stent Placement After ESP of Major Papillary Tumors; Prospective, Randomized Study Unknown status NCT01737463 Phase 4
16 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
17 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
18 Curcumin Therapy in Patients With Impaired Glucose Tolerance and Insulin Resistance Unknown status NCT01052025 Phase 4
19 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4
20 A Study To Compare Sirolimus Versus Tacrolimus In De Novo Simultaneous Pancreas- Kidney Allograft Recipients Receiving An Induction Therapy With Antithymocyte Globulin Plus Mycophenolate Mofetil Plus Corticosteroids Unknown status NCT00693446 Phase 4
21 Optimizing Influenza Vaccination in Surgical Oncology Patients Unknown status NCT01698177 Phase 4
22 Liraglutide Actions on the Liver: Effects on Glucose Phosphorylation Unknown status NCT02198209 Phase 4
23 Uncovered Self-expandable Metal Stent Versus Double Layer Plastic Stent for Malignant Hilar Stricture Unknown status NCT01125865 Phase 4
24 Effect of Linagliptin on Insulin Sensitivity and Pancreatic Beta Cell Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02097342 Phase 4
25 Vascular Effects of Sitagliptin in Diabetes Mellitus Unknown status NCT01096277 Phase 4
26 Bone Turnover in Type 2 Diabetes Patients Unknown status NCT00732121 Phase 4
27 Treatment of Low Blood Sugar With Glucagon Among Patients With Type 1 Diabetes Unknown status NCT02232971 Phase 4
28 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
29 Relationship Between Platinum Levels in the Blood and Neurotoxicity in Patients Who Are Receiving Oxaliplatin for Gastrointestinal Cancer Unknown status NCT00274885 Phase 4
30 RCT: Difference in Diagnostic Yield Between EUSFNA Needles With and Without a Side Port in Pancreatic Masses Completed NCT02092519 Phase 4
31 Alfentanil Versus Remifentanil in Patient-controlled Sedation During Endoscopic Retrograde Cholangiopancreatography (ERCP) Completed NCT01350037 Phase 4
32 Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy Completed NCT00526331 Phase 4
33 A Study to Determine if Antibiotics Prevent Infection in the Pancreas of Patients Where Part of the Pancreas Has Died Completed NCT00061438 Phase 4
34 Enzyme Suppletion in Exocrine Pancreatic Dysfunction Completed NCT01430234 Phase 4
35 Creon After Pancreatic Surgery Completed NCT00535756 Phase 4
36 Evaluation of Pancreatic Tissue Penetration of Meronem® in the Prophylaxis of Septic Complications in Severe Pancreatitis Completed NCT00318994 Phase 4
37 Early Enteral Nutrition for Severe Acute Pancreatitis Completed NCT00995098 Phase 4
38 Nutritional and Metabolic Evaluation of a Tube Feeding Immune Enhancing Diet in ICU Patients Completed NCT00560157 Phase 4
39 Evaluation of the Digestive and Metabolic Utilisation of Dietary Protein in Patients With Chronic Pancreatitis Completed NCT00957151 Phase 4
40 Enteral Nutrition in Acute Pancreatitis Completed NCT01965873 Phase 4
41 Post ERCP Pancreatitis Prevention in Average Risk Patients Completed NCT01784445 Phase 4
42 Sitagliptin Therapy to Improve Outcomes After Islet Autotransplant Completed NCT01186562 Phase 4
43 Dexmedetomidine Versus Placebo in Endoscopic Retrograde Cholangiopancreatography (ERCP) Sedation Completed NCT01070680 Phase 4
44 Activated Protein C in Severe Acute Pancreatitis Completed NCT01017107 Phase 4
45 Assess the Effect of Erythromycin on the Rate of Success in Placement of a Self-propelled Feeding Tube Completed NCT00999232 Phase 4
46 Acute Pancreatitis and Acute Fluid Collections Completed NCT00786929 Phase 4
47 Somatostatin, Octreotide, Pentoxyfilline in the Prevention of Post-ERCP Pancreatitis and Molecular Markers Completed NCT00222092 Phase 4
48 Use of Polyethylene Glycolic Acid or Tachocomb to Prevent Pancreatic Fistula Following Distal Pancreatectomy Completed NCT01550406 Phase 4
49 Prospective Study of Efficacy of Intra-muscular Vitamin D3 in Tropical Calcific Pancreatitis Completed NCT00956839 Phase 4
50 Enteral Nutrition in the Treatment of Pancreatic Fistulas - A Prospective Study Completed NCT01025414 Phase 4

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:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis 1 24 PDX1

Anatomical Context for Pancreatic Agenesis 1

MalaCards organs/tissues related to Pancreatic Agenesis 1:

39
Pancreas

Publications for Pancreatic Agenesis 1

Variations for Pancreatic Agenesis 1

ClinVar genetic disease variations for Pancreatic Agenesis 1:

6
id 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.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519

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:

id Super pathways Score Top Affiliating Genes
1 11.08 CFTR PDX1
2 10.61 CFTR PNLIP

GO Terms for Pancreatic Agenesis 1

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.62 CFTR PDX1

Sources for Pancreatic Agenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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