PAGEN1
MCID: PNC106
MIFTS: 48

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 75 73
Pancreatic Diseases 44 73
Pagen1 57 75
Pagen 57 75
Pancreatic Hypoplasia, Congenital 57
Congenital Pancreatic Hypoplasia 75
Pancreatic Agenesis, Congenital 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some patients have subclinical exocrine pancreatic deficiency


HPO:

32
pancreatic agenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pancreatic Agenesis 1

UniProtKB/Swiss-Prot : 75 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 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. Affiliated tissues include pancreas, testes and liver, and related phenotypes are diabetes mellitus and failure to thrive

Description from OMIM: 260370

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 52)
# Related Disease Score Top Affiliating Genes
1 pancreas disease 31.1 SPINK1 SCT PNLIP CFTR
2 acute pancreatitis 29.9 SPINK1 SCT PNLIP CFTR
3 recurrent acute pancreatitis 29.8 SPINK1 SCT CFTR
4 pancreatitis 29.4 SPINK1 SCT PNLIP CFTR
5 cystic fibrosis 29.3 SPINK1 SCT CFTR
6 steatorrhea 28.8 SCT PNLIP CFTR
7 exocrine pancreatic insufficiency 28.2 SPINK1 SCT PNLIP PDX1 CFTR
8 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 12.4
9 heart defects, congenital, and other congenital anomalies 11.1
10 pancreatic agenesis 2 11.1
11 yorifuji okuno syndrome 11.1
12 pancreatic lipase deficiency 11.0
13 osmotic diarrhea 10.8
14 pancreatic cancer 10.0
15 pancreatic steatorrhea 9.9 SCT PNLIP
16 maturity-onset diabetes of the young, type 7 9.9 SCT PDX1
17 duodenal atresia 9.8 SCT CFTR
18 insulinoma 9.8 SCT PDX1
19 panniculitis 9.8
20 diabetes mellitus 9.8
21 pancreatitis, hereditary 9.7 SPINK1 CFTR
22 autoimmune pancreatitis 9.7
23 inflammatory bowel disease 9.7
24 dyspepsia 9.7
25 adenocarcinoma 9.7
26 carcinoma showing thymus-like differentiation 9.7
27 alcoholic pancreatitis 9.6 SPINK1 SCT CFTR
28 multiple endocrine neoplasia, type i 9.5
29 systemic lupus erythematosus 9.5
30 porphyria, acute intermittent 9.5
31 alpha-2-macroglobulin deficiency 9.5
32 alcohol abuse 9.5
33 alcoholic liver cirrhosis 9.5
34 chronic kidney failure 9.5
35 hepatitis 9.5
36 pancreatic ductal adenocarcinoma 9.5
37 lymphoma 9.5
38 portal hypertension 9.5
39 hemosiderosis 9.5
40 porphyria 9.5
41 obstructive jaundice 9.5
42 nodular nonsuppurative panniculitis 9.5
43 duodenal obstruction 9.5
44 kidney disease 9.5
45 lupus erythematosus 9.5
46 noma 9.5
47 degos 'en cocarde' erythrokeratoderma 9.5
48 frontal fibrosing alopecia 9.5
49 pineal cyst 9.5
50 multiple endocrine neoplasia 9.5

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 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

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

UMLS symptoms related to Pancreatic Agenesis 1:


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

GenomeRNAi Phenotypes related to Pancreatic Agenesis 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.62 CFTR PDX1

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

Search Clinical Trials , 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, Lung, Kidney, Heart, Pineal

Publications for Pancreatic Agenesis 1

Articles related to Pancreatic Agenesis 1:

(show top 50) (show all 319)
# Title Authors Year
1
Compressed-Sensing Accelerated 3-Dimensional Magnetic Resonance Cholangiopancreatography: Application in Suspected Pancreatic Diseases. ( 28976478 )
2018
2
The clinical value of secretin-enhanced MRCP in the functional and morphological assessment of pancreatic diseases. ( 29206061 )
2018
3
Immunohistochemical analysis of IMP3 and p53 expression in endoscopic ultrasound-guided fine needle aspiration and resected specimens of pancreatic diseases. ( 29305088 )
2018
4
CT imaging of primary pancreatic lymphoma: experience from three referral centres for pancreatic diseases. ( 29335928 )
2018
5
Diverse effects of interleukin-22 on pancreatic diseases. ( 29502986 )
2018
6
Diabetes mellitus secondary to pancreatic diseases (type 3c): The effect of smoking on the exocrine-endocrine interactions of the pancreas. ( 29558826 )
2018
7
Announcements for this section should be submitted in the correct format at least 3 months before the required date of publication. This list is provided as a service to readers; inclusion does not imply endorsement by the Hepatobiliary & Pancreatic Diseases International. ( 29655663 )
2018
8
Comparative occurrence of diabetes in canine, feline, and few wild animals and their association with pancreatic diseases and ketoacidosis with therapeutic approach. ( 29805204 )
2018
9
A Rising Star in Pancreatic Diseases: Pancreatic Stellate Cells. ( 29967585 )
2018
10
Management of Benign Pancreatic Diseases. ( 30241648 )
2018
11
Understanding Pancreatic Diseases Using Animated Pancreas Patient: Informing Patients for Better Health Outcomes With Visual Formats of Learning. ( 30286013 )
2018
12
Treatment with incretins does not increase the risk of pancreatic diseases compared to older anti-hyperglycaemic drugs, when added to metformin: real world evidence in people with Type 2 diabetes. ( 30306620 )
2018
13
Burden and Cost of Gastrointestinal, Liver, and Pancreatic Diseases in the United States: Update 2018. ( 30315778 )
2018
14
Gene Therapy for Pancreatic Diseases: Current Status. ( 30384450 )
2018
15
Pancreas divisum: a reemerging risk factor for pancreatic diseases. ( 30521477 )
2018
16
Gut microbiota and pancreatic diseases. ( 28240004 )
2017
17
Biomarkers in the Differential Diagnosis of Pancreatic Diseases: Looking for a Compass. ( 28426495 )
2017
18
Benign Exocrine Pancreatic Diseases in Inflammatory Bowel Diseases. ( 28445877 )
2017
19
"Heat shock protein 70 in pancreatic diseases: Friend or foe". ( 28543919 )
2017
20
The role of pancreatic polypeptide in pancreatic diseases. ( 29442468 )
2017
21
The diagnostic role of the neutrophil-to-lymphocyte ratio in predicting pancreatic ductal adenocarcinoma in patients with pancreatic diseases. ( 27023215 )
2016
22
Splenic Arterial Embolization in the Treatment of Severe Portal Hypertension Due to Pancreatic Diseases: The Primary Experience in 14 Patients. ( 26304614 )
2016
23
CA-125, but not galectin-3, complements CA 19-9 for discriminating ductal adenocarcinoma versus non-malignant pancreatic diseases. ( 26613889 )
2016
24
Poly(ADP-Ribose) Polymerases: New Players in the Pathogenesis of Exocrine Pancreatic Diseases. ( 26687988 )
2016
25
Operative Trends for Pancreatic Diseases in the USA: Analysis of the Nationwide Inpatient Sample from 1998-2011. ( 26791389 )
2016
26
Performance of novel tissue harmonic echo imaging using endoscopic ultrasound for pancreatic diseases. ( 26793784 )
2016
27
The Role of Endoscopic Retrograde Cholangiopancreatography in Management of Pancreatic Diseases. ( 26895680 )
2016
28
Advances in Surgical Management of Pancreatic Diseases. ( 26895685 )
2016
29
Advances in Management of Pancreatic Diseases. ( 26895687 )
2016
30
The Burden of Gastrointestinal, Liver, and Pancreatic Diseases: The Global Scenario. ( 26930015 )
2016
31
OC-06 - Pro-thrombotic biomarkers in pancreatic diseases: are they specific of cancer? ( 27161678 )
2016
32
Contrast enhancement and elastography in endoscopic ultrasound: an update of clinical applications in pancreatic diseases. ( 27186921 )
2016
33
Secretin-stimulated MR cholangiopancreatography: spectrum of findings in pancreatic diseases. ( 27628744 )
2016
34
Role of the preoperative usefulness of the pathological diagnosis of pancreatic diseases. ( 27672423 )
2016
35
Serum Carbohydrate-Deficient Transferrin in Pancreatic Diseases of Different Etiologies. ( 28164578 )
2016
36
Global incidence and mortality of pancreatic diseases: a systematic review, meta-analysis, and meta-regression of population-based cohort studies. ( 28404111 )
2016
37
Alcohol Abuse and Pancreatic Diseases: An Overview. ( 25925405 )
2015
38
Endoscopic treatment for pancreatic diseases: Needle-knife-guided cannulation via the minor papilla. ( 26019460 )
2015
39
Toll like receptors and pancreatic diseases: From a pathogenetic mechanism to a therapeutic target. ( 26036357 )
2015
40
Diabetes associated with pancreatic diseases. ( 26125315 )
2015
41
Burden of Gastrointestinal, Liver, and Pancreatic Diseases in the United States. ( 26327134 )
2015
42
Better Biomarkers for Pancreatic Diseases. ( 26465944 )
2015
43
The vitamin D system is deregulated in pancreatic diseases. ( 25090635 )
2014
44
The clinical significance of somatostatin in pancreatic diseases. ( 25156131 )
2014
45
A review of animal models of nonneoplastic pancreatic diseases. ( 24178571 )
2014
46
Management of biliary and pancreatic diseases using a new intraductal endoscope. ( 24443952 )
2014
47
Pancreatic diseases. ( 24619470 )
2014
48
Contrast enhancement and elastography in endoscopic ultrasound: an overview of clinical applications in pancreatic diseases. ( 25028864 )
2014
49
Pain sensation in pancreatic diseases is not uniform: the different facets of pancreatic pain. ( 25083089 )
2014
50
Intraoperative ultrasound in the treatment of pancreatic diseases. ( 25205697 )
2014

Variations for Pancreatic Agenesis 1

ClinVar genetic disease variations for Pancreatic Agenesis 1:

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 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 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:

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

Sources for Pancreatic Agenesis 1

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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