MCID: AGN005
MIFTS: 22

Agenesis of the Dorsal Pancreas malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Agenesis of the Dorsal Pancreas

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Aliases & Descriptions for Agenesis of the Dorsal Pancreas:

Name: Agenesis of the Dorsal Pancreas 46
Congenital Pancreatic Agenesis 46 25
Complete Agenesis of the Dorsal Pancreas 46
Partial Agenesis of the Dorsal Pancreas 46
Pancreatic Agenesis, Congenital 66
 
Pancreas, Dorsal, Agenesis of 46
Partial Pancreatic Agenesis 46
Pancreas Agenesis, Dorsal 46
Congenital Short Pancreas 46

Classifications:



Summaries for Agenesis of the Dorsal Pancreas

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NIH Rare Diseases:46 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. last updated: 7/22/2011

MalaCards based summary: Agenesis of the Dorsal Pancreas, also known as congenital pancreatic agenesis, is related to pancreatitis and peutz-jeghers syndrome. An important gene associated with Agenesis of the Dorsal Pancreas is PDX1 (Pancreatic And Duodenal Homeobox 1). Affiliated tissues include pancreas.

Related Diseases for Agenesis of the Dorsal Pancreas

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

idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis10.3
2peutz-jeghers syndrome9.9
3hepatitis9.9
4pancreatic agenesis9.9
5obstructive jaundice9.9
6acute pancreatitis9.9
7duodenitis9.9
8choledochal cyst9.9
9recurrent acute pancreatitis9.9

Graphical network of diseases related to Agenesis of the Dorsal Pancreas:



Diseases related to agenesis of the dorsal pancreas

Symptoms for Agenesis of the Dorsal Pancreas

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Drugs & Therapeutics for Agenesis of the Dorsal Pancreas

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Agenesis of the Dorsal Pancreas

Genetic Tests for Agenesis of the Dorsal Pancreas

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Genetic tests related to Agenesis of the Dorsal Pancreas:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital25

Anatomical Context for Agenesis of the Dorsal Pancreas

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

34
Pancreas

Animal Models for Agenesis of the Dorsal Pancreas or affiliated genes

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Publications for Agenesis of the Dorsal Pancreas

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Articles related to Agenesis of the Dorsal Pancreas:

(show all 34)
idTitleAuthorsYear
1
Agenesis of the dorsal pancreas: systematic review of a clinical challenge. (27468966)
2016
2
Successful Pancreatic Duct Stent Placement for Recurrent Pancreatitis in a Patient with Polysplenia with Agenesis of the Dorsal Pancreas and Peutz-Jeghers Syndrome. (27374675)
2016
3
Ampullary carcinoma in a patient with agenesis of the dorsal pancreas: a case report. (25972636)
2015
4
Complete agenesis of the dorsal pancreas: Case report with imaging findings and review of the literature. (26405517)
2015
5
Agenesis of the dorsal pancreas: a rare cause of diabetes. (21573988)
2012
6
Imaging findings in agenesis of the dorsal pancreas. Report of three cases. (22233961)
2012
7
Polysplenia syndrome with agenesis of the dorsal pancreas and preduodenal portal vein presenting with obstructive jaundice--a case report and literature review. (22011826)
2011
8
Agenesis of the dorsal pancreas. (19125774)
2009
9
Agenesis of the dorsal pancreas and its association with pancreatic tumors. (19390403)
2009
10
Agenesis of the dorsal pancreas and associated diseases. (18618254)
2009
11
Agenesis of the dorsal pancreas. (19140241)
2009
12
Agenesis of the dorsal pancreas. (18473421)
2008
13
Annular pancreas and agenesis of the dorsal pancreas in a patient with polysplenia syndrome. (17242221)
2007
14
Role of endoscopic ultrasound in the diagnosis of agenesis of the dorsal pancreas. (16832139)
2006
15
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
16
Agenesis of the dorsal pancreas with chronic calcific pancreatitis. case report, review of the literature and genetic basis. (17095847)
2006
17
Agenesis of the dorsal pancreas: a case report and review of the literature. (17249505)
2006
18
Agenesis of the dorsal pancreas (ADP) and pancreatitis - is there an association? (16567893)
2006
19
Bile duct schwannoma developed in the remnant choledochal cyst-a case associated with total agenesis of the dorsal pancreas. (15925554)
2005
20
Agenesis of the dorsal pancreas in a patient with recurrent acute pancreatitis: case report and review. (15332050)
2004
21
Reduction of hepatic glycogen synthesis and breakdown in patients with agenesis of the dorsal pancreas. (12364458)
2002
22
Solid and papillary tumor of the pancreas complicating agenesis of the dorsal pancreas. (11702261)
2001
23
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9. (10471501)
1999
24
Complete agenesis of the dorsal pancreas. (10436244)
1999
25
Diagnosis of agenesis of the dorsal pancreas with MR pancreatography. (9423620)
1998
26
Pancreatitis and agenesis of the dorsal pancreas. (9831413)
1998
27
Case report: agenesis of the dorsal pancreas: a cause of diagnostic error on abdominal sonography. (8631173)
1996
28
Complete and partial agenesis of the dorsal pancreas within one family. (8566643)
1995
29
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. (8462806)
1993
30
Agenesis and pseudo-agenesis of the dorsal pancreas. (8439753)
1993
31
Agenesis of the dorsal pancreas with polysplenia syndrome: CT features. (1430442)
1992
32
Complete agenesis of the dorsal pancreas--a case report and review of the literature. (2199969)
1990
33
A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. (5493568)
1970
34
Agenesis of the dorsal pancreas in an adult diabetic presenting with duodenal ileus. (5906622)
1966

Variations for Agenesis of the Dorsal Pancreas

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Clinvar genetic disease variations for Agenesis of the Dorsal Pancreas:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDX1NM_000209.3(PDX1): c.533A> G (p.Glu178Gly)single nucleotide variantPathogenicrs387906777GRCh37Chr 13, 28498519: 28498519
2PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic

Expression for genes affiliated with Agenesis of the Dorsal Pancreas

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

Pathways for genes affiliated with Agenesis of the Dorsal Pancreas

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GO Terms for genes affiliated with Agenesis of the Dorsal Pancreas

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Sources for Agenesis of the Dorsal Pancreas

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet