MCID: PNC120
MIFTS: 23

Pancreas, Dorsal, Agenesis of

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Pancreas, Dorsal, Agenesis of

MalaCards integrated aliases for Pancreas, Dorsal, Agenesis of:

Name: Pancreas, Dorsal, Agenesis of 57 53
Pancreatic Agenesis, Congenital 29 6 73
Complete Agenesis of the Dorsal Pancreas 53
Partial Agenesis of the Dorsal Pancreas 53
Agenesis of the Dorsal Pancreas 53
Congenital Pancreatic Agenesis 53
Partial Pancreatic Agenesis 53
Congenital Short Pancreas 53
Pancreas Agenesis, Dorsal 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pancreas, dorsal, agenesis of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 167755
MedGen 42 C1868659
SNOMED-CT via HPO 69 263681008 73211009 3855007
UMLS 73 C1850096

Summaries for Pancreas, Dorsal, Agenesis of

NIH Rare Diseases : 53 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 pancreatic agenesis, congenital, is related to pancreatitis and diabetes mellitus. An important gene associated with Pancreas, Dorsal, Agenesis of is PDX1 (Pancreatic And Duodenal Homeobox 1). Affiliated tissues include pancreas, and related phenotypes are diabetes mellitus and abnormality of the pancreas

OMIM : 57 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 18)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 10.3
2 diabetes mellitus 10.0
3 pancreas, annular 9.9
4 peutz-jeghers syndrome 9.9
5 heterotaxy, visceral, 1, x-linked 9.9
6 bile duct cysts 9.9
7 hepatitis 9.9
8 pancreatic agenesis 9.9
9 obstructive jaundice 9.9
10 cystic teratoma 9.9
11 acute pancreatitis 9.9
12 adenocarcinoma 9.9
13 mucinous adenocarcinoma 9.9
14 teratoma 9.9
15 alcoholic pancreatitis 9.9
16 duodenitis 9.9
17 heterotaxy 9.9
18 recurrent acute pancreatitis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Pancreas:
enlarged pancreatic head
absent corpus, tail and uncinate process

Endocrine Features:
diabetes mellitus, susceptibility to


Clinical features from OMIM:

167755

Human phenotypes related to Pancreas, Dorsal, Agenesis of:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 abnormality of the pancreas 32 HP:0001732

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

Genetic tests related to Pancreas, Dorsal, Agenesis of:

# Genetic test Affiliating Genes
1 Pancreatic Agenesis, Congenital 29 PDX1

Anatomical Context for Pancreas, Dorsal, Agenesis of

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

41
Pancreas

Publications for Pancreas, Dorsal, Agenesis of

Articles related to Pancreas, Dorsal, Agenesis of:

# Title Authors Year
1
Complete agenesis of the dorsal pancreas: A rare clinical entity. ( 27857901 )
2016
2
Complete agenesis of the dorsal pancreas: Case report with imaging findings and review of the literature. ( 26405517 )
2015
3
Complete agenesis of the dorsal pancreas. ( 10436244 )
1999
4
Complete agenesis of the dorsal pancreas--a case report and review of the literature. ( 2199969 )
1990

Variations for Pancreas, Dorsal, Agenesis of

ClinVar genetic disease variations for Pancreas, Dorsal, Agenesis of:

6
(show all 11)
# 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.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 GRCh38 Chromosome 13, 27924341: 27924341
4 PDX1 NM_000209.3(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 GRCh37 Chromosome 13, 28498518: 28498518
5 PDX1 NM_000209.3(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 GRCh38 Chromosome 13, 27924381: 27924381
6 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh37 Chromosome 13, 28494463: 28494463
7 PDX1 NM_000209.3(PDX1): c.188delC (p.Pro63Argfs) deletion Pathogenic rs193929377 GRCh38 Chromosome 13, 27920326: 27920326
8 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh37 Chromosome 13, 28498519: 28498519
9 PDX1 NM_000209.3(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 GRCh38 Chromosome 13, 27924382: 27924382
10 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 28498488: 28498488
11 PDX1 NM_000209.3(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 27924351: 27924351

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

Sources for Pancreas, Dorsal, Agenesis of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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