MCID: PNC120
MIFTS: 31

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 57 53
Pancreatic Agenesis, Congenital 29 6 72
Congenital Pancreatic Agenesis 53 59
Partial Pancreatic Agenesis 53 59
Complete Agenesis of the Dorsal Pancreas 53
Partial Agenesis of the Dorsal Pancreas 53
Partial Agenesis of the Pancreas 59
Agenesis of the Dorsal Pancreas 53
Congenital Short Pancreas 53
Pancreas Agenesis, Dorsal 53

Characteristics:

Orphanet epidemiological data:

59
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 167755
ICD10 via Orphanet 34 Q45.0
UMLS via Orphanet 73 C1850096
Orphanet 59 ORPHA2805
MedGen 42 C1868659
UMLS 72 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 pancreatic agenesis and neonatal diabetes mellitus. 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 Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. 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

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:

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

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

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:

(show all 12)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 71
20621032 2010
2
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 71
20009086 2010
3
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 71
19496967 2009
4
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 71
12970316 2003
5
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 71
9649577 1998
6
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 71
9326926 1997
7
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 71
8988180 1997
8
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 71
8506821 1993
9
Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. 8
8462806 1993
10
The role of pancreatic imaging in monogenic diabetes mellitus. 38
22124438 2011
11
Calcifying pancreatitis of a congenital short pancreas: a case report with successful endoscopic papillotomy. 38
3687908 1987
12
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. 38
3443265 1987

Variations for Pancreas, Dorsal, Agenesis of

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDX1 PDX1, 1-BP DEL, 188C deletion Pathogenic
2 PDX1 NM_000209.4(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 13:28498478-28498478 13:27924341-27924341
3 PDX1 NM_000209.4(PDX1): c.532G> A (p.Glu178Lys) single nucleotide variant Pathogenic rs80356662 13:28498518-28498518 13:27924381-27924381
4 PDX1 NM_000209.4(PDX1): c.188del (p.Pro63fs) deletion Pathogenic rs193929377 13:28494463-28494463 13:27920326-27920326
5 PDX1 NM_000209.4(PDX1): c.533A> G (p.Glu178Gly) single nucleotide variant Pathogenic rs387906777 13:28498519-28498519 13:27924382-27924382
6 PDX1 NM_000209.4(PDX1): c.502A> C (p.Asn168His) single nucleotide variant Likely pathogenic rs1555241857 13:28498488-28498488 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

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 9.26 PTF1A PDX1
2 pancreas development GO:0031016 8.96 PTF1A PDX1
3 transcription by RNA polymerase II GO:0006366 8.85 PDX1
4 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 8.96 PTF1A PDX1
2 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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