MCID: AGN005
MIFTS: 20

Agenesis of the Dorsal Pancreas malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Agenesis of the Dorsal Pancreas

Aliases & Descriptions for Agenesis of the Dorsal Pancreas:

Name: Agenesis of the Dorsal Pancreas 50
Congenital Pancreatic Agenesis 50 29
Complete Agenesis of the Dorsal Pancreas 50
Partial Agenesis of the Dorsal Pancreas 50
Pancreatic Agenesis, Congenital 69
Pancreas, Dorsal, Agenesis of 50
Partial Pancreatic Agenesis 50
Congenital Short Pancreas 50
Pancreas Agenesis, Dorsal 50

Classifications:



Summaries for Agenesis of the Dorsal Pancreas

NIH Rare Diseases : 50 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

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

id Related Disease Score Top Affiliating Genes
1 pancreatitis 10.2
2 peutz-jeghers syndrome 9.8
3 hepatitis 9.8
4 pancreatic agenesis 9.8
5 obstructive jaundice 9.8
6 acute pancreatitis 9.8
7 duodenitis 9.8
8 choledochal cyst 9.8
9 recurrent acute pancreatitis 9.8

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



Diseases related to Agenesis of the Dorsal Pancreas

Symptoms & Phenotypes for Agenesis of the Dorsal Pancreas

Drugs & Therapeutics for Agenesis of the Dorsal Pancreas

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

Genetic Tests for Agenesis of the Dorsal Pancreas

Genetic tests related to Agenesis of the Dorsal Pancreas:

id Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital 29

Anatomical Context for Agenesis of the Dorsal Pancreas

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

39
Pancreas

Publications for Agenesis of the Dorsal Pancreas

Articles related to Agenesis of the Dorsal Pancreas:

(show all 35)
id Title Authors Year
1
Agenesis of the dorsal pancreas: systematic review of a clinical challenge. ( 27468966 )
2016
2
Complete agenesis of the dorsal pancreas: A rare clinical entity. ( 27857901 )
2016
3
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
4
Ampullary carcinoma in a patient with agenesis of the dorsal pancreas: a case report. ( 25972636 )
2015
5
Complete agenesis of the dorsal pancreas: Case report with imaging findings and review of the literature. ( 26405517 )
2015
6
Agenesis of the dorsal pancreas: a rare cause of diabetes. ( 21573988 )
2012
7
Imaging findings in agenesis of the dorsal pancreas. Report of three cases. ( 22233961 )
2012
8
Polysplenia syndrome with agenesis of the dorsal pancreas and preduodenal portal vein presenting with obstructive jaundice--a case report and literature review. ( 22011826 )
2011
9
Agenesis of the dorsal pancreas. ( 19140241 )
2009
10
Agenesis of the dorsal pancreas. ( 19125774 )
2009
11
Agenesis of the dorsal pancreas and associated diseases. ( 18618254 )
2009
12
Agenesis of the dorsal pancreas and its association with pancreatic tumors. ( 19390403 )
2009
13
Agenesis of the dorsal pancreas. ( 18473421 )
2008
14
Annular pancreas and agenesis of the dorsal pancreas in a patient with polysplenia syndrome. ( 17242221 )
2007
15
Agenesis of the dorsal pancreas with chronic calcific pancreatitis. case report, review of the literature and genetic basis. ( 17095847 )
2006
16
Agenesis of the dorsal pancreas (ADP) and pancreatitis - is there an association? ( 16567893 )
2006
17
Agenesis of the dorsal pancreas: a case report and review of the literature. ( 17249505 )
2006
18
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. ( 16677169 )
2006
19
Role of endoscopic ultrasound in the diagnosis of agenesis of the dorsal pancreas. ( 16832139 )
2006
20
Bile duct schwannoma developed in the remnant choledochal cyst-a case associated with total agenesis of the dorsal pancreas. ( 15925554 )
2005
21
Agenesis of the dorsal pancreas in a patient with recurrent acute pancreatitis: case report and review. ( 15332050 )
2004
22
Reduction of hepatic glycogen synthesis and breakdown in patients with agenesis of the dorsal pancreas. ( 12364458 )
2002
23
Solid and papillary tumor of the pancreas complicating agenesis of the dorsal pancreas. ( 11702261 )
2001
24
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9. ( 10471501 )
1999
25
Complete agenesis of the dorsal pancreas. ( 10436244 )
1999
26
Pancreatitis and agenesis of the dorsal pancreas. ( 9831413 )
1998
27
Diagnosis of agenesis of the dorsal pancreas with MR pancreatography. ( 9423620 )
1998
28
Case report: agenesis of the dorsal pancreas: a cause of diagnostic error on abdominal sonography. ( 8631173 )
1996
29
Complete and partial agenesis of the dorsal pancreas within one family. ( 8566643 )
1995
30
Agenesis and pseudo-agenesis of the dorsal pancreas. ( 8439753 )
1993
31
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. ( 8462806 )
1993
32
Agenesis of the dorsal pancreas with polysplenia syndrome: CT features. ( 1430442 )
1992
33
Complete agenesis of the dorsal pancreas--a case report and review of the literature. ( 2199969 )
1990
34
A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. ( 5493568 )
1970
35
Agenesis of the dorsal pancreas in an adult diabetic presenting with duodenal ileus. ( 5906622 )
1966

Variations for Agenesis of the Dorsal Pancreas

ClinVar genetic disease variations for Agenesis of the Dorsal Pancreas:

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 Agenesis of the Dorsal Pancreas

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

Pathways for Agenesis of the Dorsal Pancreas

GO Terms for Agenesis of the Dorsal Pancreas

Sources for Agenesis of the Dorsal Pancreas

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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