MCID: PNC045
MIFTS: 43

Pancreatic Agenesis

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

Aliases & Classifications for Pancreatic Agenesis

MalaCards integrated aliases 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
UMLS via Orphanet 70 C1850096
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 Mesodermal Commitment Pathway and Insulin secretion. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and bone marrow, and related phenotypes are shRNA abundance <= 50% and growth/size/body region

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 top 50) (show all 57)
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 12.1
4 agenesis of the dorsal pancreas 11.4
5 yorifuji okuno syndrome 10.8
6 diabetes mellitus, transient neonatal, 3 10.4 ABCC8 KCNJ11
7 inferior vena cava interruption 10.4 GATA4 GATA6
8 pasli disease 10.4 GATA4 GATA6
9 atrial fibrillation, familial, 12 10.4 ABCC8 KCNJ11
10 fecal incontinence 10.4 PDX1 PTF1A
11 hemoglobin zurich 10.3 ABCC8 KCNJ11
12 pancreatitis 10.3
13 retinitis pigmentosa 68 10.3 ABCC8 INS
14 cervical serous adenocarcinoma 10.3 GATA4 GATA6
15 noonan syndrome 2 10.3 ABCC8 KCNJ11
16 diabetes mellitus, permanent neonatal 10.3 ABCC8 GCK
17 deafness, autosomal recessive 18a 10.3 ABCC8 KCNJ11
18 adrenal cortical hypofunction 10.3 GCK PDX1
19 perinephritis 10.1 ABCC8 INS
20 fetal alcohol syndrome 10.0 GATA4 GATA6
21 dracunculiasis 10.0 GCK INS
22 acute insulin response 10.0 ABCC8 INS KCNJ11
23 hyperinsulinemic hypoglycemia, familial, 4 10.0 GCK INS
24 alstrom syndrome 10.0 INS KCNJ11
25 nephronophthisis 19 10.0 ABCC8 INS KCNJ11
26 chondroma 10.0 ABCC8 INS KCNJ11
27 neonatal diabetes mellitus 10.0
28 writing disorder 10.0 ABCC8 GCK KCNJ11
29 tricho odonto onycho dermal syndrome 9.9 GATA4 GATA6
30 perianal skin paget's disease 9.9 PTF1A SOX17
31 survival motor neuron spinal muscular atrophy 9.8 GCK INS KCNJ11
32 antidepressant type abuse 9.8 GCK INS KCNJ11
33 ichthyosis 9.7 GATA4 GATA6
34 intraocular lymphoma 9.6 ABCC8 GCK INS PDX1
35 congenital diaphragmatic hernia 9.6
36 gastroduodenitis 9.6
37 recurrent acute pancreatitis 9.6
38 renal dysplasia 9.6
39 obesity 9.6
40 pervasive developmental disorder 9.6
41 portal hypertension 9.6
42 heart disease 9.6
43 acute pancreatitis 9.6
44 labyrinthine unilateral reactive loss 9.5 ABCC8 GCK INS KCNJ11
45 neurogenic arthropathy 9.5 ABCC8 GCK INS KCNJ11
46 diabetic cataract 9.5 ABCC8 GCK INS KCNJ11
47 hypertrichosis 9.5 ABCC8 GCK INS KCNJ11
48 exostosis 9.5 ABCC8 GCK INS KCNJ11
49 triple x syndrome 9.5 ABCC8 GCK INS KCNJ11
50 morning glory syndrome 9.2 ABCC8 GCK INS KCNJ11 PDX1

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



Diseases related to Pancreatic Agenesis

Symptoms & Phenotypes for Pancreatic Agenesis

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 GATA4 GATA6 GCK KCNJ11 PDX1 PTF1A

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 GATA4 GATA6 GCK HMX1 INS KCNJ11
2 endocrine/exocrine gland MP:0005379 10.03 ABCC8 GATA4 GCK INS KCNJ11 PDX1
3 cellular MP:0005384 10.02 INS PDX1 PTF1A SOX17 GATA4 GATA6
4 homeostasis/metabolism MP:0005376 10.02 ABCC8 GATA4 GATA6 GCK INS KCNJ11
5 mortality/aging MP:0010768 9.91 GATA4 GATA6 GCK HMX1 INS KCNJ11
6 liver/biliary system MP:0005370 9.87 PTF1A SOX17 GATA4 GATA6 GCK INS
7 digestive/alimentary MP:0005381 9.85 GATA4 INS PDX1 PTF1A SOX17
8 muscle MP:0005369 9.63 GATA4 GATA6 INS KCNJ11 PDX1 SOX17
9 no phenotypic analysis MP:0003012 9.56 ABCC8 GATA4 HMX1 INS KCNJ11 PDX1
10 normal MP:0002873 9.1 GATA4 GATA6 INS PDX1 PTF1A SOX17

Drugs & Therapeutics for Pancreatic Agenesis

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Early Phase 1 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,Early Phase 1 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 Antiviral Agents Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
14 Antirheumatic Agents Phase 2, Phase 3,Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16
Melphalan Approved Phase 2,Early Phase 1 148-82-3 4053 460612
17
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
19
Mechlorethamine Approved Phase 2 51-75-2 4033
20
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
21
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
24 Anti-Bacterial Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Calcineurin Inhibitors Phase 2
27 Dermatologic Agents Phase 2
28 Folic Acid Antagonists Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 Vidarabine Phosphate Phase 2
31 Vitamin B Complex Phase 2
32 Folate Nutraceutical Phase 2
33 phenylalanine Nutraceutical Phase 2
34 Vitamin B9 Nutraceutical Phase 2
35
Abatacept Approved Phase 1 332348-12-6 10237
36 Cyclosporins Phase 1
37
Iron Approved 7439-89-6 23925
38 Vaccines Early Phase 1
39 Micronutrients
40 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
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 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
4 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
6 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
7 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
8 Genes Influencing Iron Overload State Active, not recruiting NCT01158794
9 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

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, Bone, Bone Marrow, Heart, Liver, Kidney, Uterus

Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show all 36)
id Title Authors Year
1
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. ( 28663161 )
2017
2
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. ( 28436541 )
2017
3
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ( 28049534 )
2017
4
Dorsal pancreatic agenesis: description of CT signs. ( 26976832 )
2016
5
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. ( 27654989 )
2016
6
Isolated Dorsal Pancreatic Agenesis. ( 27981930 )
2016
7
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. ( 25791554 )
2015
8
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. ( 25706805 )
2015
9
A novel mutation in GATA6 causes pancreatic agenesis. ( 24433315 )
2014
10
MR in complete dorsal pancreatic agenesis: Case report and review of literature. ( 25024525 )
2014
11
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. ( 25584257 )
2014
12
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. ( 24212882 )
2014
13
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
14
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
15
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. ( 23223019 )
2013
16
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. ( 24147249 )
2013
17
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. ( 23006325 )
2012
18
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. ( 22270042 )
2012
19
GATA6 haploinsufficiency causes pancreatic agenesis in humans. ( 22158542 )
2012
20
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. ( 22806356 )
2012
21
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. ( 21488951 )
2011
22
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
23
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )
2010
24
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. ( 21589822 )
2009
25
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. ( 19646249 )
2009
26
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )
2009
27
Neonatal diabetes mellitus due to pancreatic agenesis. ( 18426328 )
2008
28
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. ( 18547237 )
2008
29
Dorsal pancreatic agenesis. ( 17625298 )
2007
30
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. ( 16677169 )
2006
31
Pancreatic agenesis as cause for neonatal diabetes mellitus. ( 15770578 )
2005
32
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. ( 11193482 )
2000
33
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )
1997
34
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )
1993
35
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. ( 3443265 )
1987
36
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.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

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 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 GATA4 GATA6 SOX17
2
Show member pathways
12.05 ABCC8 GCK INS KCNJ11 PDX1
3
Show member pathways
11.99 ABCC8 INS KCNJ11
4
Show member pathways
11.7 GCK INS PDX1
5 11.68 GATA4 INS PDX1 PTF1A SOX17
6
Show member pathways
11.62 GCK INS PDX1 PTF1A
7
Show member pathways
11.34 ABCC8 GCK INS KCNJ11 PDX1
8 11.3 GATA4 INS SOX17
9 11.23 GATA4 GATA6 PTF1A
10 11.21 ABCC8 KCNJ11
11 11.14 GATA4 GATA6
12 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 29)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.98 GATA4 GATA6 PDX1 PTF1A SOX17
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.94 GATA6 HMX1 PDX1 SOX17
3 transcription from RNA polymerase II promoter GO:0006366 9.91 GATA4 GATA6 PDX1 PTF1A
4 positive regulation of transcription, DNA-templated GO:0045893 9.8 GATA4 GATA6 PDX1 PTF1A SOX17
5 glucose homeostasis GO:0042593 9.71 GCK INS PDX1
6 positive regulation of cell differentiation GO:0045597 9.64 INS SOX17
7 positive regulation of insulin secretion GO:0032024 9.63 GCK PDX1
8 positive regulation of BMP signaling pathway GO:0030513 9.62 GATA4 GATA6
9 stem cell differentiation GO:0048863 9.62 PDX1 SOX17
10 endoderm development GO:0007492 9.61 GATA4 SOX17
11 regulation of insulin secretion GO:0050796 9.61 ABCC8 GCK KCNJ11
12 negative regulation of insulin secretion GO:0046676 9.6 ABCC8 KCNJ11
13 cardiac muscle cell differentiation GO:0055007 9.59 GATA4 GATA6
14 cellular glucose homeostasis GO:0001678 9.58 ABCC8 GCK
15 positive regulation of glycogen biosynthetic process GO:0045725 9.57 GCK INS
16 negative regulation of gluconeogenesis GO:0045721 9.55 GCK INS
17 embryonic foregut morphogenesis GO:0048617 9.52 GATA4 SOX17
18 type B pancreatic cell differentiation GO:0003309 9.51 GATA6 PDX1
19 exocrine pancreas development GO:0031017 9.49 PDX1 PTF1A
20 transdifferentiation GO:0060290 9.48 GATA4 PDX1
21 intestinal epithelial cell differentiation GO:0060575 9.46 GATA4 GATA6
22 positive regulation of cardioblast differentiation GO:0051891 9.37 GATA4 GATA6
23 response to drug GO:0042493 9.35 ABCC8 GATA4 GATA6 KCNJ11 PDX1
24 pancreas development GO:0031016 9.33 GATA6 PDX1 PTF1A
25 detection of glucose GO:0051594 9.32 GCK PDX1
26 endodermal cell fate determination GO:0007493 9.26 GATA6 SOX17
27 glucose metabolic process GO:0006006 8.92 GCK INS KCNJ11 PDX1
28 transcription, DNA-templated GO:0006351 10.11 GATA4 GATA6 HMX1 PDX1 PTF1A SOX17
29 regulation of transcription, DNA-templated GO:0006355 10.1 GATA4 GATA6 HMX1 INS PDX1 PTF1A

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.93 GATA4 GATA6 HMX1 PDX1 PTF1A SOX17
2 transcription regulatory region DNA binding GO:0044212 9.65 GATA4 GATA6 SOX17
3 chromatin binding GO:0003682 9.62 GATA4 GATA6 PDX1 PTF1A
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.61 GATA4 GATA6 HMX1
5 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.58 GATA4 GATA6 SOX17
6 transcription factor binding GO:0008134 9.56 GATA4 GATA6 PDX1 SOX17
7 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.54 GATA4 GATA6 SOX17
8 RNA polymerase II transcription factor binding GO:0001085 9.49 GATA4 GATA6
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 GATA6 PDX1 SOX17
10 sequence-specific DNA binding GO:0043565 9.1 GATA4 GATA6 HMX1 PDX1 PTF1A SOX17
11 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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