MCID: PNC106
MIFTS: 36

Pancreatic Agenesis 1

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

Aliases & Classifications for Pancreatic Agenesis 1

MalaCards integrated aliases for Pancreatic Agenesis 1:

Name: Pancreatic Agenesis 1 53 71 69
Pancreatic Diseases 41 69
Pagen1 53 71
Pagen 53 71
Pancreatic Hypoplasia, Congenital 53
Congenital Pancreatic Hypoplasia 71
Pancreatic Agenesis, Congenital 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
some patients have subclinical exocrine pancreatic deficiency


HPO:

31
pancreatic agenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pancreatic Agenesis 1

UniProtKB/Swiss-Prot : 71 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 failure to thrive, intrauterine growth retardation and exocrine pancreatic insufficiency. 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, and related phenotype is digestive/alimentary.

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 all 31)
# Related Disease Score Top Affiliating Genes
1 pancreas disease 30.7 SCT SPINK1
2 recurrent acute pancreatitis 29.1 CFTR SCT SPINK1
3 pancreatitis 28.9 CFTR PNLIP SCT SPINK1
4 acute pancreatitis 28.8 PNLIP SCT SPINK1
5 steatorrhea 28.1 CFTR PNLIP SCT
6 cystic fibrosis 27.8 CFTR PNLIP SCT SPINK1
7 exocrine pancreatic insufficiency 27.7 CFTR PDX1 PNLIP SCT
8 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 12.2
9 heart defects, congenital, and other congenital anomalies 11.0
10 pancreatic agenesis 2 11.0
11 pancreatic lipase deficiency 10.9
12 osmotic diarrhea 10.7
13 pancreatic steatorrhea 9.8 PNLIP SCT
14 fibrosis of extraocular muscles, congenital, 1 9.6
15 insulinoma 9.6 PDX1 SCT
16 pancreatic cancer 9.6
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.6
18 panniculitis 9.6
19 dyspepsia 9.6
20 autoimmune pancreatitis 9.6
21 systemic lupus erythematosus 9.4
22 inflammatory bowel disease 9.4
23 obstructive jaundice 9.4
24 duodenal obstruction 9.4
25 duodenitis 9.4
26 lupus erythematosus 9.4
27 pineal cyst 9.4
28 chronic enteropathy associated with slco2a1 gene 9.4
29 lupus erythematosus panniculitis 9.4
30 alcoholic pancreatitis 9.2 CFTR SCT SPINK1
31 pancreatitis, hereditary 8.9 CFTR 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 via clinical synopsis from OMIM:

53
Growth Other:
intrauterine growth retardation
failure to thrive

Endocrine Features:
neonatal insulin-dependent diabetes mellitus

Abdomen Pancreas:
pancreatic agenesis or hypoplasia
exocrine pancreatic insufficiency

Laboratory Abnormalities:
serum c-peptide and glucagon levels measurable


Clinical features from OMIM:

260370

Human phenotypes related to Pancreatic Agenesis 1:

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

UMLS symptoms related to Pancreatic Agenesis 1:


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

MGI Mouse Phenotypes related to Pancreatic Agenesis 1:

43
# 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:

38
Pancreas

Publications for Pancreatic Agenesis 1

Articles related to Pancreatic Agenesis 1:

(show top 50) (show all 78)
# Title Authors Year
1
Do pancreatic cancer and chronic pancreatitis share the same genetic risk factors? A PANcreatic Disease ReseArch (PANDoRA) consortium investigation. ( 28913878 )
2018
2
Polycystic pancreatic disease associated with pineal cyst in an adolescent: a case report and literature overview. ( 29026573 )
2017
3
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. ( 27129381 )
2016
4
Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study. ( 24550193 )
2014
5
The clinical significance of somatostatin in pancreatic diseases. ( 25156131 )
2014
6
The vitamin D system is deregulated in pancreatic diseases. ( 25090635 )
2014
7
Fecal elastase-1 is useful in the detection of steatorrhea in patients with pancreatic diseases but not after pancreatic resection. ( 23395568 )
2013
8
MRI manifestations of pancreatic disease, especially pancreatitis, in the pediatric population. ( 24261395 )
2013
9
Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. ( 23770712 )
2013
10
Efficacy of low-fat diet against dyspepsia associated with nonalcoholic mild pancreatic disease diagnosed using the Rosemont criteria. ( 22836859 )
2013
11
Improved diagnostic accuracy of pancreatic diseases with a combination of various novel serum biomarkers--case control study from Manipal Teaching Hospital, Pokhara, Nepal. ( 22901189 )
2012
12
Serum procarboxypeptidase A and carboxypeptidase A levels in pancreatic disease. ( 21502183 )
2012
13
Obstructive jaundice and pancreatic disease. ( 23069596 )
2012
14
Mucin expression pattern in pancreatic diseases: findings from EUS-guided fine-needle aspiration biopsies. ( 21647207 )
2011
15
Roles of serine protease inhibitor Kazal type 1 (SPINK1) in pancreatic diseases. ( 22041280 )
2011
16
Enhanced discrimination of malignant from benign pancreatic disease by measuring the CA 19-9 antigen on specific protein carriers. ( 22220206 )
2011
17
Efficacy of camostat mesilate against dyspepsia associated with non-alcoholic mild pancreatic disease. ( 19876587 )
2010
18
Autoimmune pancreatitis--a new evolving pancreatic disease? ( 20862490 )
2010
19
Rosiglitazone aggravates nonalcoholic Fatty pancreatic disease in C57BL/6 mice fed high-fat and high-sucrose diet. ( 19214135 )
2009
20
Autoimmune pancreatitis: disease evolution, staging, response assessment, and CT features that predict response to corticosteroid therapy. ( 19017924 )
2009
21
The role of epoxide hydrolase Y113H gene variant in pancreatic diseases. ( 19287329 )
2009
22
[Hepato-biliary and pancreatic disease and osteodystrophy]. ( 19721198 )
2009
23
Heat shock proteins in pancreatic diseases. ( 18336662 )
2008
24
Enhanced ENA-78 and IL-8 expression in patients with malignant pancreatic diseases. ( 18765953 )
2008
25
Coincidental CFTR mutation and SjAPgren syndrome revealing a pancreatic disease. ( 17575550 )
2007
26
CEA, CA 19-9, and CA 125 in the differential diagnosis of benign and malignant pancreatic diseases with or without jaundice. ( 17262731 )
2007
27
Serum adenosine deaminase levels in pancreatic diseases. ( 17901713 )
2007
28
Upregulation of CD39/NTPDases and P2 receptors in human pancreatic disease. ( 16920697 )
2007
29
DNA methylation alterations in the pancreatic juice of patients with suspected pancreatic disease. ( 16424060 )
2006
30
Cystic fibrosis transmembrane regulator mutations and pancreatic disease: closing the gap between genotype and phenotype. ( 16427928 )
2006
31
Do cytokine concentrations in pancreatic juice predict the presence of pancreatic diseases? ( 16713745 )
2006
32
Novel serum tumor marker, RCAS1, in pancreatic diseases. ( 16127752 )
2005
33
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. ( 16199544 )
2005
34
Subcutaneous nodules pointing towards pancreatic disease: pancreatic panniculitis. ( 15308866 )
2004
35
Detection of point mutation in K-ras oncogene at codon 12 in pancreatic diseases. ( 15040037 )
2004
36
Determination of plasma glycoprotein 2 levels in patients with pancreatic disease. ( 15163232 )
2004
37
Immunohistochemical localization of type IV collagen alpha chains in the basement membrane of the pancreatic duct in human normal pancreas and pancreatic diseases. ( 15211113 )
2004
38
Human anionic trypsinogen: properties of autocatalytic activation and degradation and implications in pancreatic diseases. ( 12709065 )
2003
39
Mutations of the CFTR gene in pancreatic disease. ( 14576497 )
2003
40
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. ( 12952861 )
2003
41
Genetics and pancreatic disease. ( 17033331 )
2002
42
Secretin-mediated gene delivery, a specific targeting mechanism with potential for treatment of biliary and pancreatic disease in cystic fibrosis. ( 11945072 )
2002
43
Pancreatitis-associated protein levels in pancreatic juice from patients with pancreatic diseases. ( 12120267 )
2001
44
Evaluation of the role of CFTR in alcohol related pancreatic disease. ( 11476081 )
2001
45
Bombesin receptors in distinct tissue compartments of human pancreatic diseases. ( 11140694 )
2000
46
Severe chronic pancreatitis versus suspected pancreatic disease: dynamic MR cholangiopancreatography after secretin stimulation. ( 10715057 )
2000
47
Neurotensin receptor-1 mRNA analysis in normal pancreas and pancreatic disease. ( 10690540 )
2000
48
Proteases in the evaluation of pancreatic function and pancreatic disease. ( 10675724 )
2000
49
Angiogenesis, angiogenic growth factors, and cell adhesion molecules are upregulated in chronic pancreatic diseases: angiogenesis in chronic pancreatitis and in pancreatic cancer. ( 9888665 )
1999
50
Ki-ras codon 12 point mutation and p53 mutation in pancreatic diseases. ( 10522044 )
1999

Variations for Pancreatic Agenesis 1

ClinVar genetic disease variations for Pancreatic Agenesis 1:

6
# 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.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
5 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
6 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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