MCID: PNC045
MIFTS: 42

Pancreatic Agenesis malady

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

Aliases & Classifications for Pancreatic Agenesis

Aliases & Descriptions for Pancreatic Agenesis:

Name: Pancreatic Agenesis 12 13 14
Partial Pancreatic Agenesis 12 56
Partial Agenesis of the Pancreas 56
Pancreatic Agenesis, Congenital 69
Congenital Pancreatic Agenesis 56

Characteristics:

Orphanet epidemiological data:

56
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050877
Orphanet 56 ORPHA2805
ICD10 via Orphanet 34 Q45.0

Summaries for Pancreatic Agenesis

Disease Ontology : 12 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

MalaCards based summary : Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to pancreatic agenesis and congenital heart defects and pancreatic agenesis 2. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Insulin secretion and Integration of energy metabolism. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, heart and liver, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Related Diseases for Pancreatic Agenesis

Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 2 Pancreatic Agenesis 1

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 pancreatic agenesis and congenital heart defects 12.3
2 pancreatic agenesis 2 12.2
3 pancreatic agenesis 1 12.2
4 agenesis of the dorsal pancreas 11.4
5 pancreatitis 10.3
6 noonan syndrome 3 10.2 ABCC8 KCNJ11
7 ritscher-schinzel syndrome 2 10.1 ABCC8 KCNJ11
8 fibrosis of extraocular muscles, congenital, 3c 10.1 CFTR PDX1
9 diaphanospondylodysostosis 10.1 ABCC8 GCK
10 alopecia-mental retardation syndrome 2 10.1 ABCC8 INS
11 hemorrhagic fever 10.1 ABCC8 KCNJ11
12 orbital granuloma 10.1 GCK PDX1
13 anuria 10.0 ABCC8 INS
14 female stress incontinence 10.0 CFTR PDX1 PTF1A
15 fanconi anemia, complementation group f 10.0 ABCC8 KCNJ11
16 autoimmune disease 1 10.0 ABCC8 INS KCNJ11
17 deafness, autosomal recessive 66 10.0 ABCC8 INS KCNJ11
18 nosophobia 10.0 ABCC8 GCK KCNJ11
19 chondroma 10.0 ABCC8 INS KCNJ11
20 gastric duplication cysts 10.0 PTF1A SOX17
21 neonatal diabetes mellitus 10.0
22 antidepressant type abuse 9.9 GCK INS KCNJ11
23 acinar cell cystadenocarcinoma 9.9 PTF1A SOX17
24 dracunculiasis 9.9 GCK INS
25 ischemic heart disease 9.8 ABCC8 GCK INS PDX1
26 labyrinthine unilateral reactive loss 9.8 ABCC8 GCK INS KCNJ11
27 maturity-onset diabetes of the young, type 13 9.8 ABCC8 GCK INS KCNJ11
28 diabetic cataract 9.8 ABCC8 GCK INS KCNJ11
29 neurogenic arthropathy 9.8 ABCC8 GCK INS KCNJ11
30 exostosis 9.8 ABCC8 GCK INS KCNJ11
31 peroneal neuropathy 9.8 ABCC8 GCK INS KCNJ11
32 body dysmorphic disorder 9.8 ABCC8 GCK INS KCNJ11
33 diabetes mellitus, insulin-dependent, 20 9.8 GCK INS KCNJ11 PDX1
34 mosaic trisomy 13 9.7 ABCC8 GCK INS KCNJ11 PDX1
35 brain stem glioma 9.7 ABCC8 GCK INS KCNJ11 PDX1
36 congenital stationary night blindness 9.7 ABCC8 GCK INS KCNJ11 PDX1
37 maturity-onset diabetes of the young 6 9.7 ABCC8 GCK INS KCNJ11 PDX1
38 distal muscular dystrophy 9.6 ABCC8 GCK INS KCNJ11 PDX1 PTF1A
39 renal dysplasia 9.6
40 obesity 9.6
41 pervasive developmental disorder 9.6
42 portal hypertension 9.6
43 heart disease 9.6
44 congenital diaphragmatic hernia 9.6
45 gastroduodenitis 9.6
46 focal segmental glomerulosclerosis 8 9.5 ABCC8 GATA6 GCK INS KCNJ11 PDX1
47 non-syndromic intellectual disability 8.7 ABCC8 CFTR GATA6 GCK HMX1 INS

Graphical network of the top 20 diseases related to Pancreatic Agenesis:



Diseases related to Pancreatic Agenesis

Symptoms & Phenotypes for Pancreatic Agenesis

MGI Mouse Phenotypes related to Pancreatic Agenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 GATA6 GCK HMX1 INS KCNJ11 PDX1
2 endocrine/exocrine gland MP:0005379 10.03 ABCC8 CFTR GCK INS KCNJ11 PDX1
3 homeostasis/metabolism MP:0005376 10.02 ABCC8 CFTR GATA6 GCK INS KCNJ11
4 mortality/aging MP:0010768 9.91 CFTR GATA6 GCK HMX1 INS KCNJ11
5 liver/biliary system MP:0005370 9.87 CFTR GATA6 GCK INS PDX1 PTF1A
6 digestive/alimentary MP:0005381 9.85 CFTR INS PDX1 PTF1A SOX17
7 no phenotypic analysis MP:0003012 9.56 ABCC8 CFTR HMX1 INS KCNJ11 PDX1
8 muscle MP:0005369 9.55 GATA6 INS KCNJ11 PDX1 SOX17
9 normal MP:0002873 9.1 INS PDX1 PTF1A SOX17 CFTR GATA6

Drugs & Therapeutics for Pancreatic Agenesis

Drugs for Pancreatic Agenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Lenograstim Approved Phase 2, Phase 3 135968-09-1
7 Alkylating Agents Phase 2, Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3
10 Antimetabolites Phase 2, Phase 3
11 Antimetabolites, Antineoplastic Phase 2, Phase 3
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1
16 Adjuvants, Immunologic Phase 2, Phase 3
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
20
Mechlorethamine Approved Phase 2 51-75-2 4033
21
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
22
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Calcineurin Inhibitors Phase 2
28 Dermatologic Agents Phase 2
29 Folic Acid Antagonists Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 2
31 Vidarabine Phosphate Phase 2
32 Vitamin B Complex Phase 2
33 Folate Nutraceutical Phase 2
34 phenylalanine Nutraceutical Phase 2
35 Vitamin B9 Nutraceutical Phase 2
36
Abatacept Approved Phase 1 332348-12-6 10237
37
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
38
Iron Approved 7439-89-6 23925
39 Vaccines
40 Micronutrients
41 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
3 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2
4 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
6 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
7 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
8 Genes Influencing Iron Overload State Active, not recruiting NCT01158794
9 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

Anatomical Context for Pancreatic Agenesis

MalaCards organs/tissues related to Pancreatic Agenesis:

39
Pancreas, Heart, Liver, Kidney, Uterus

Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show all 34)
id Title Authors Year
1
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
2
Isolated Dorsal Pancreatic Agenesis. ( 27981930 )
2016
3
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. ( 27654989 )
2016
4
Dorsal pancreatic agenesis: description of CT signs. ( 26976832 )
2016
5
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. ( 25791554 )
2015
6
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. ( 25706805 )
2015
7
MR in complete dorsal pancreatic agenesis: Case report and review of literature. ( 25024525 )
2014
8
A novel mutation in GATA6 causes pancreatic agenesis. ( 24433315 )
2014
9
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
10
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. ( 25584257 )
2014
11
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. ( 24212882 )
2014
12
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. ( 23223019 )
2013
13
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay. ( 24310933 )
2013
14
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. ( 24147249 )
2013
15
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. ( 23006325 )
2012
16
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. ( 22806356 )
2012
17
GATA6 haploinsufficiency causes pancreatic agenesis in humans. ( 22158542 )
2012
18
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. ( 22270042 )
2012
19
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. ( 21488951 )
2011
20
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )
2010
21
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. ( 20854389 )
2010
22
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. ( 19646249 )
2009
23
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. ( 21589822 )
2009
24
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )
2009
25
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. ( 18547237 )
2008
26
Neonatal diabetes mellitus due to pancreatic agenesis. ( 18426328 )
2008
27
Dorsal pancreatic agenesis. ( 17625298 )
2007
28
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. ( 16677169 )
2006
29
Pancreatic agenesis as cause for neonatal diabetes mellitus. ( 15770578 )
2005
30
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. ( 11193482 )
2000
31
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )
1997
32
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
33
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. ( 3443265 )
1987
34
Long-term survival in a case of functional pancreatic agenesis. ( 7000995 )
1980

Variations for Pancreatic Agenesis

ClinVar genetic disease variations for Pancreatic Agenesis:

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

Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for Pancreatic Agenesis

Pathways related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 ABCC8 GCK INS KCNJ11 PDX1
2
Show member pathways
11.94 ABCC8 INS KCNJ11
3 11.68 CFTR INS PDX1 PTF1A SOX17
4
Show member pathways
11.64 GCK INS PDX1
5
Show member pathways
11.62 GCK INS PDX1 PTF1A
6
Show member pathways
11.34 ABCC8 GCK INS KCNJ11 PDX1
7 11.24 ABCC8 KCNJ11
8 11.2 INS SOX17
9 11.17 ABCC8 KCNJ11
10 11.11 GATA6 PTF1A
11 10.66 ABCC8 GCK INS KCNJ11 PDX1

GO Terms for Pancreatic Agenesis

Cellular components related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.13 GATA6 PTF1A SOX17
2 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.89 GATA6 HMX1 PDX1 SOX17
2 positive regulation of transcription, DNA-templated GO:0045893 9.86 GATA6 PDX1 PTF1A SOX17
3 response to drug GO:0042493 9.73 ABCC8 GATA6 KCNJ11 PDX1
4 glucose homeostasis GO:0042593 9.63 GCK INS PDX1
5 positive regulation of cell differentiation GO:0045597 9.6 INS SOX17
6 positive regulation of insulin secretion GO:0032024 9.58 GCK PDX1
7 glucose transport GO:0015758 9.58 GCK INS
8 stem cell differentiation GO:0048863 9.57 PDX1 SOX17
9 negative regulation of insulin secretion GO:0046676 9.55 ABCC8 KCNJ11
10 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.54 CFTR PDX1
11 regulation of insulin secretion GO:0050796 9.54 ABCC8 GCK KCNJ11
12 cellular glucose homeostasis GO:0001678 9.52 ABCC8 GCK
13 positive regulation of glycogen biosynthetic process GO:0045725 9.51 GCK INS
14 negative regulation of gluconeogenesis GO:0045721 9.49 GCK INS
15 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.48 ABCC8 CFTR
16 type B pancreatic cell differentiation GO:0003309 9.4 GATA6 PDX1
17 exocrine pancreas development GO:0031017 9.32 PDX1 PTF1A
18 detection of glucose GO:0051594 9.26 GCK PDX1
19 endodermal cell fate determination GO:0007493 9.16 GATA6 SOX17
20 pancreas development GO:0031016 9.13 GATA6 PDX1 PTF1A
21 glucose metabolic process GO:0006006 8.92 GCK INS KCNJ11 PDX1
22 regulation of transcription, DNA-templated GO:0006355 10.08 GATA6 HMX1 INS PDX1 PTF1A SOX17

Molecular functions related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.54 GATA6 PDX1 SOX17
2 sequence-specific DNA binding GO:0043565 9.35 GATA6 HMX1 PDX1 PTF1A SOX17
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 GATA6 PDX1 SOX17
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.32 ABCC8 CFTR
5 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.26 ABCC8 CFTR
6 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Pancreatic Agenesis

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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