MCID: AGN005
MIFTS: 17

Agenesis of the Dorsal Pancreas malady

Rare diseases, Endocrine diseases categories

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 45
Pancreas Agenesis, Dorsal 45 65
Complete Agenesis of the Dorsal Pancreas 45
Partial Agenesis of the Dorsal Pancreas 45
 
Pancreatic Agenesis, Congenital 65
Pancreas, Dorsal, Agenesis of 45
Congenital Short Pancreas 45


Classifications:



Summaries for Agenesis of the Dorsal Pancreas

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NIH Rare Diseases:45 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 pancreas agenesis, dorsal, is related to pancreatitis and hepatitis. 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
1pancreatitis10.7
2hepatitis10.3
3obstructive jaundice10.3
4acute pancreatitis10.3
5duodenitis10.3
6pancreatic agenesis10.3
7choledochal cyst10.3
8annular pancreas10.3
9recurrent acute pancreatitis10.3

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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Anatomical Context for Agenesis of the Dorsal Pancreas

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

33
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 31)
idTitleAuthorsYear
1
Complete agenesis of the dorsal pancreas: Case report with imaging findings and review of the literature. (26405517)
2015
2
Ampullary carcinoma in a patient with agenesis of the dorsal pancreas: a case report. (25972636)
2015
3
Agenesis of the dorsal pancreas: a rare cause of diabetes. (21573988)
2012
4
Imaging findings in agenesis of the dorsal pancreas. Report of three cases. (22233961)
2012
5
Polysplenia syndrome with agenesis of the dorsal pancreas and preduodenal portal vein presenting with obstructive jaundice--a case report and literature review. (22011826)
2011
6
Agenesis of the dorsal pancreas. (19140241)
2009
7
Agenesis of the dorsal pancreas. (19125774)
2009
8
Agenesis of the dorsal pancreas and its association with pancreatic tumors. (19390403)
2009
9
Agenesis of the dorsal pancreas and associated diseases. (18618254)
2009
10
Annular pancreas and agenesis of the dorsal pancreas in a patient with polysplenia syndrome. (17242221)
2007
11
Role of endoscopic ultrasound in the diagnosis of agenesis of the dorsal pancreas. (16832139)
2006
12
Agenesis of the dorsal pancreas (ADP) and pancreatitis - is there an association? (16567893)
2006
13
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
14
Agenesis of the dorsal pancreas with chronic calcific pancreatitis. case report, review of the literature and genetic basis. (17095847)
2006
15
Agenesis of the dorsal pancreas: a case report and review of the literature. (17249505)
2006
16
Bile duct schwannoma developed in the remnant choledochal cyst-a case associated with total agenesis of the dorsal pancreas. (15925554)
2005
17
Agenesis of the dorsal pancreas in a patient with recurrent acute pancreatitis: case report and review. (15332050)
2004
18
Reduction of hepatic glycogen synthesis and breakdown in patients with agenesis of the dorsal pancreas. (12364458)
2002
19
Solid and papillary tumor of the pancreas complicating agenesis of the dorsal pancreas. (11702261)
2001
20
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9. (10471501)
1999
21
Complete agenesis of the dorsal pancreas. (10436244)
1999
22
Pancreatitis and agenesis of the dorsal pancreas. (9831413)
1998
23
Diagnosis of agenesis of the dorsal pancreas with MR pancreatography. (9423620)
1998
24
Case report: agenesis of the dorsal pancreas: a cause of diagnostic error on abdominal sonography. (8631173)
1996
25
Complete and partial agenesis of the dorsal pancreas within one family. (8566643)
1995
26
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. (8462806)
1993
27
Agenesis and pseudo-agenesis of the dorsal pancreas. (8439753)
1993
28
Agenesis of the dorsal pancreas with polysplenia syndrome: CT features. (1430442)
1992
29
Complete agenesis of the dorsal pancreas--a case report and review of the literature. (2199969)
1990
30
A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. (5493568)
1970
31
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
3PDX1NM_000209.3(PDX1): c.532G> A (p.Glu178Lys)single nucleotide variantPathogenicrs80356662GRCh37Chr 13, 28498518: 28498518

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet