MCID: PNC120
MIFTS: 28

Pancreas, Dorsal, Agenesis of

Categories: Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pancreas, Dorsal, Agenesis of

MalaCards integrated aliases for Pancreas, Dorsal, Agenesis of:

Name: Pancreas, Dorsal, Agenesis of 56 52
Congenital Pancreatic Agenesis 52 58
Partial Pancreatic Agenesis 52 58
Complete Agenesis of the Dorsal Pancreas 52
Partial Agenesis of the Dorsal Pancreas 52
Partial Agenesis of the Pancreas 58
Agenesis of the Dorsal Pancreas 52
Pancreatic Agenesis, Congenital 71
Congenital Short Pancreas 52
Pancreas Agenesis, Dorsal 52

Characteristics:

Orphanet epidemiological data:

58
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pancreas, dorsal, agenesis of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 167755
ICD10 via Orphanet 33 Q45.0
UMLS via Orphanet 72 C1850096
Orphanet 58 ORPHA2805
MedGen 41 C1868659
SNOMED-CT via HPO 68 263681008 3855007 73211009
UMLS 71 C1850096

Summaries for Pancreas, Dorsal, Agenesis of

NIH Rare Diseases : 52 Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia , diabetes mellitus , bile duct obstruction , abdominal pain, pancreatitis , or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals. The cause of agenesis of the dorsal pancreas is currently not well understood. It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested. It has also been reported to occur with very rare conditions including polysplenia and polysplenia/heterotaxy syndrome .

MalaCards based summary : Pancreas, Dorsal, Agenesis of, also known as congenital pancreatic agenesis, is related to pancreatic agenesis and pancreatitis. An important gene associated with Pancreas, Dorsal, Agenesis of is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Regulation of beta-cell development. Affiliated tissues include pancreas and heart, and related phenotypes are diabetes mellitus and abnormality of the pancreas

OMIM : 56 Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas (Wildling et al., 1993). (167755)

Related Diseases for Pancreas, Dorsal, Agenesis of

Diseases related to Pancreas, Dorsal, Agenesis of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 pancreatic agenesis 32.0 PTF1A PDX1
2 pancreatitis 29.5 PTF1A PDX1
3 exocrine pancreatic insufficiency 29.3 PTF1A PDX1
4 diabetes mellitus, permanent neonatal 4 29.2 PTF1A PDX1
5 neonatal diabetes mellitus 29.0 PTF1A PDX1
6 maturity-onset diabetes of the young 28.7 PTF1A PDX1
7 heart defects, congenital, and other congenital anomalies 11.5
8 acute pancreatitis 10.4
9 hyperglycemia 10.3
10 pancreas, annular 10.1
11 obstructive jaundice 10.1
12 alcoholic pancreatitis 10.1
13 diabetes mellitus 10.1
14 heterotaxy 10.1
15 back pain 10.1
16 peutz-jeghers syndrome 10.0
17 neural tube defects 10.0
18 pancreatic cancer 10.0
19 pancreatic agenesis 1 10.0
20 bile duct cysts 10.0
21 diabetes mellitus, ketosis-prone 10.0
22 microvascular complications of diabetes 5 10.0
23 chromosome 17q12 deletion syndrome 10.0
24 metabolic acidosis 10.0
25 polycystic kidney disease 10.0
26 cholelithiasis 10.0
27 choledocholithiasis 10.0
28 heart septal defect 10.0
29 cystic teratoma 10.0
30 mucinous adenocarcinoma 10.0
31 neurilemmoma 10.0
32 teratoma 10.0
33 appendix adenocarcinoma 10.0
34 glucose metabolism disease 10.0
35 kidney disease 10.0
36 double outlet right ventricle 10.0
37 ileus 10.0
38 47,xyy 10.0
39 diabetes mellitus, 6q24-related transient neonatal 10.0
40 diabetes mellitus, permanent neonatal 1 9.9
41 maturity-onset diabetes of the young, type 4 9.9
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
43 hydrocephalus 9.8
44 congenital hydrocephalus 9.8
45 renal cysts and diabetes syndrome 9.6 PTF1A PDX1
46 transient neonatal diabetes mellitus 9.5 PTF1A PDX1

Graphical network of the top 20 diseases related to Pancreas, Dorsal, Agenesis of:



Diseases related to Pancreas, Dorsal, Agenesis of

Symptoms & Phenotypes for Pancreas, Dorsal, Agenesis of

Human phenotypes related to Pancreas, Dorsal, Agenesis of:

31
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 abnormality of the pancreas 31 HP:0001732

Symptoms via clinical synopsis from OMIM:

56
Abdomen Pancreas:
enlarged pancreatic head
absent corpus, tail and uncinate process

Endocrine Features:
diabetes mellitus, susceptibility to

Clinical features from OMIM:

167755

Drugs & Therapeutics for Pancreas, Dorsal, Agenesis of

Search Clinical Trials , NIH Clinical Center for Pancreas, Dorsal, Agenesis of

Genetic Tests for Pancreas, Dorsal, Agenesis of

Anatomical Context for Pancreas, Dorsal, Agenesis of

MalaCards organs/tissues related to Pancreas, Dorsal, Agenesis of:

40
Pancreas, Heart

Publications for Pancreas, Dorsal, Agenesis of

Articles related to Pancreas, Dorsal, Agenesis of:

(show all 14)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 6
20621032 2010
2
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 6
20009086 2010
3
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 6
19496967 2009
4
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 6
12970316 2003
5
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 6
9649577 1998
6
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 6
9326926 1997
7
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 6
8988180 1997
8
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 6
8506821 1993
9
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. 56
8462806 1993
10
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA. 61
32524025 2020
11
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation. 61
32245430 2020
12
The role of pancreatic imaging in monogenic diabetes mellitus. 61
22124438 2011
13
Calcifying pancreatitis of a congenital short pancreas: a case report with successful endoscopic papillotomy. 61
3687908 1987
14
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. 61
3443265 1987

Variations for Pancreas, Dorsal, Agenesis of

Expression for Pancreas, Dorsal, Agenesis of

Search GEO for disease gene expression data for Pancreas, Dorsal, Agenesis of.

Pathways for Pancreas, Dorsal, Agenesis of

GO Terms for Pancreas, Dorsal, Agenesis of

Biological processes related to Pancreas, Dorsal, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.16 PTF1A PDX1
2 pancreas development GO:0031016 8.96 PTF1A PDX1
3 exocrine pancreas development GO:0031017 8.62 PTF1A PDX1

Molecular functions related to Pancreas, Dorsal, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.16 PTF1A PDX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 PTF1A PDX1
3 chromatin binding GO:0003682 8.62 PTF1A PDX1

Sources for Pancreas, Dorsal, Agenesis of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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