MCID: PNC106
MIFTS: 37

Pancreatic Agenesis 1

Categories: Genetic diseases, Endocrine diseases, Fetal 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 abdominal pain, constipation and diarrhea. 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 all 29)
# Related Disease Score Top Affiliating Genes
1 pancreas disease 31.0 SCT SPINK1
2 acute pancreatitis 29.1 PNLIP SCT SPINK1
3 recurrent acute pancreatitis 28.5 CFTR SCT SPINK1
4 pancreatitis 28.0 CFTR PNLIP SCT SPINK1
5 steatorrhea 27.6 CFTR PNLIP SCT
6 exocrine pancreatic insufficiency 26.9 CFTR PDX1 PNLIP SCT
7 cystic fibrosis 26.8 CFTR PNLIP SCT SPINK1
8 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 12.3
9 heart defects, congenital, and other congenital anomalies 11.0
10 pancreatic agenesis 2 11.0
11 pancreatic lipase deficiency 10.8
12 osmotic diarrhea 10.7
13 pancreatic steatorrhea 9.8 PNLIP SCT
14 pancreatic cancer 9.7
15 panniculitis 9.6
16 dyspepsia 9.6
17 autoimmune pancreatitis 9.6
18 duodenal atresia 9.5 CFTR SCT
19 insulinoma 9.4 PDX1 SCT
20 systemic lupus erythematosus 9.4
21 inflammatory bowel disease 9.4
22 obstructive jaundice 9.4
23 duodenal obstruction 9.4
24 duodenitis 9.4
25 lupus erythematosus 9.4
26 pineal cyst 9.4
27 lupus erythematosus panniculitis 9.4
28 pancreatitis, hereditary 9.1 CFTR SPINK1
29 alcoholic pancreatitis 8.8 CFTR 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:

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:


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

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, Pineal

Publications for Pancreatic Agenesis 1

Articles related to Pancreatic Agenesis 1:

(show top 50) (show all 83)
# 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
The Burden of Systemic Adiposity on Pancreatic Disease: Acute Pancreatitis, Non-Alcoholic Fatty Pancreas Disease, and Pancreatic Cancer. ( 29491829 )
2017
4
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. ( 27129381 )
2016
5
The vitamin D system is deregulated in pancreatic diseases. ( 25090635 )
2014
6
The clinical significance of somatostatin in pancreatic diseases. ( 25156131 )
2014
7
Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study. ( 24550193 )
2014
8
Fecal elastase-1 is useful in the detection of steatorrhea in patients with pancreatic diseases but not after pancreatic resection. ( 23395568 )
2013
9
ABO blood groups and pancreatic cancer risk and survival: results from the PANcreatic Disease ReseArch (PANDoRA) consortium. ( 23403949 )
2013
10
MRI manifestations of pancreatic disease, especially pancreatitis, in the pediatric population. ( 24261395 )
2013
11
Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. ( 23770712 )
2013
12
Efficacy of low-fat diet against dyspepsia associated with nonalcoholic mild pancreatic disease diagnosed using the Rosemont criteria. ( 22836859 )
2013
13
Obstructive jaundice and pancreatic disease. ( 23069596 )
2012
14
Serum procarboxypeptidase A and carboxypeptidase A levels in pancreatic disease. ( 21502183 )
2012
15
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
16
Roles of serine protease inhibitor Kazal type 1 (SPINK1) in pancreatic diseases. ( 22041280 )
2011
17
Mucin expression pattern in pancreatic diseases: findings from EUS-guided fine-needle aspiration biopsies. ( 21647207 )
2011
18
Enhanced discrimination of malignant from benign pancreatic disease by measuring the CA 19-9 antigen on specific protein carriers. ( 22220206 )
2011
19
Autoimmune pancreatitis--a new evolving pancreatic disease? ( 20862490 )
2010
20
Efficacy of camostat mesilate against dyspepsia associated with non-alcoholic mild pancreatic disease. ( 19876587 )
2010
21
[Hepato-biliary and pancreatic disease and osteodystrophy]. ( 19721198 )
2009
22
The role of epoxide hydrolase Y113H gene variant in pancreatic diseases. ( 19287329 )
2009
23
Autoimmune pancreatitis: disease evolution, staging, response assessment, and CT features that predict response to corticosteroid therapy. ( 19017924 )
2009
24
Rosiglitazone aggravates nonalcoholic Fatty pancreatic disease in C57BL/6 mice fed high-fat and high-sucrose diet. ( 19214135 )
2009
25
Heat shock proteins in pancreatic diseases. ( 18336662 )
2008
26
Enhanced ENA-78 and IL-8 expression in patients with malignant pancreatic diseases. ( 18765953 )
2008
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
Coincidental CFTR mutation and SjAPgren syndrome revealing a pancreatic disease. ( 17575550 )
2007
30
CEA, CA 19-9, and CA 125 in the differential diagnosis of benign and malignant pancreatic diseases with or without jaundice. ( 17262731 )
2007
31
DNA methylation alterations in the pancreatic juice of patients with suspected pancreatic disease. ( 16424060 )
2006
32
Do cytokine concentrations in pancreatic juice predict the presence of pancreatic diseases? ( 16713745 )
2006
33
Cystic fibrosis transmembrane regulator mutations and pancreatic disease: closing the gap between genotype and phenotype. ( 16427928 )
2006
34
Novel serum tumor marker, RCAS1, in pancreatic diseases. ( 16127752 )
2005
35
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. ( 16199544 )
2005
36
Detection of point mutation in K-ras oncogene at codon 12 in pancreatic diseases. ( 15040037 )
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
Determination of plasma glycoprotein 2 levels in patients with pancreatic disease. ( 15163232 )
2004
39
Subcutaneous nodules pointing towards pancreatic disease: pancreatic panniculitis. ( 15308866 )
2004
40
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. ( 12952861 )
2003
41
Human anionic trypsinogen: properties of autocatalytic activation and degradation and implications in pancreatic diseases. ( 12709065 )
2003
42
Mutations of the CFTR gene in pancreatic disease. ( 14576497 )
2003
43
[Genetic risk factors in pancreatic diseases--significance for general practice]. ( 12078388 )
2002
44
Genetics and pancreatic disease. ( 17033331 )
2002
45
Secretin-mediated gene delivery, a specific targeting mechanism with potential for treatment of biliary and pancreatic disease in cystic fibrosis. ( 11945072 )
2002
46
MR imaging of pancreatic diseases. ( 11335090 )
2001
47
Evaluation of the role of CFTR in alcohol related pancreatic disease. ( 11476081 )
2001
48
Pancreatitis-associated protein levels in pancreatic juice from patients with pancreatic diseases. ( 12120267 )
2001
49
Bombesin receptors in distinct tissue compartments of human pancreatic diseases. ( 11140694 )
2000
50
Neurotensin receptor-1 mRNA analysis in normal pancreas and pancreatic disease. ( 10690540 )
2000

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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