Pancreas, Dorsal, Agenesis of disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Pancreas, Dorsal, Agenesis of

MalaCards integrated aliases for Pancreas, Dorsal, Agenesis of:

Name: Pancreas, Dorsal, Agenesis of ⁵⁸ ⁵⁴

Pancreatic Agenesis, Congenital ³⁰ ⁶ ⁷⁴

Complete Agenesis of the Dorsal Pancreas ⁵⁴

Partial Agenesis of the Dorsal Pancreas ⁵⁴

Agenesis of the Dorsal Pancreas ⁵⁴

Congenital Pancreatic Agenesis ⁵⁴

Partial Pancreatic Agenesis ⁵⁴

Congenital Short Pancreas ⁵⁴

Pancreas Agenesis, Dorsal ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

pancreas, dorsal, agenesis of:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 167755

MedGen ⁴³ C1868659

SNOMED-CT via HPO ⁷⁰ 263681008 3855007 73211009

UMLS ⁷⁴ C1850096

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Summaries for Pancreas, Dorsal, Agenesis of

NIH Rare Diseases : ⁵⁴ 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 yorifuji okuno syndrome. An important gene associated with Pancreas, Dorsal, Agenesis of is PDX1 (Pancreatic And Duodenal Homeobox 1). Affiliated tissues include pancreas and appendix, and related phenotypes are diabetes mellitus and abnormality of the pancreas

OMIM : ⁵⁸ 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)

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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 24)

#	Related Disease	Score
1	pancreatic agenesis	11.8
2	yorifuji okuno syndrome	11.3
3	pancreatic agenesis 1	11.2
4	heart defects, congenital, and other congenital anomalies	11.2
5	pancreatitis	10.4
6	diabetes mellitus	10.1
7	pancreas, annular	10.0
8	peutz-jeghers syndrome	10.0
9	heterotaxy, visceral, 1, x-linked	10.0
10	bile duct cysts	10.0
11	meconium ileus	10.0
12	obstructive jaundice	10.0
13	cystic teratoma	10.0
14	acute pancreatitis	10.0
15	adenocarcinoma	10.0
16	mucinous adenocarcinoma	10.0
17	teratoma	10.0
18	appendix adenocarcinoma	10.0
19	alcoholic pancreatitis	10.0
20	heterotaxy	10.0
21	recurrent acute pancreatitis	10.0
22	diabetes mellitus, permanent neonatal	9.9
23	maturity-onset diabetes of the young, type 4	9.9
24	neonatal diabetes mellitus	9.9

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

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Symptoms & Phenotypes for Pancreas, Dorsal, Agenesis of

Human phenotypes related to Pancreas, Dorsal, Agenesis of:

³³

#	Description	HPO Frequency	HPO Source Accession
1	diabetes mellitus ³³		HP:0000819
2	abnormality of the pancreas ³³		HP:0001732

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Endocrine Features:
diabetes mellitus, susceptibility to

Clinical features from OMIM:

167755

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Drugs & Therapeutics for Pancreas, Dorsal, Agenesis of

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

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Genetic Tests for Pancreas, Dorsal, Agenesis of

Genetic tests related to Pancreas, Dorsal, Agenesis of:

#	Genetic test	Affiliating Genes
1	Pancreatic Agenesis, Congenital ³⁰	PDX1

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Anatomical Context for Pancreas, Dorsal, Agenesis of

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

⁴²

Pancreas, Appendix

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Publications for Pancreas, Dorsal, Agenesis of

Articles related to Pancreas, Dorsal, Agenesis of:

(show all 12)

#	Title	Authors	Year
1	Complete agenesis of the dorsal pancreas: A rare clinical entity. ( 27857901 )	Robert AP...John M	2016
2	Complete agenesis of the dorsal pancreas: Case report with imaging findings and review of the literature. ( 26405517 )	Kumar R...Jaiswal G	2015
3	Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. ( 20621032 )	Fajans SS...Chen M	2010
4	A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. ( 20009086 )	Nicolino M...Julier C	2010
5	Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ( 19496967 )	Thomas IH...Fajans SS	2009
6	Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. ( 12970316 )	Schwitzgebel VM...Philippe J	2003
7	Complete agenesis of the dorsal pancreas. ( 10436244 )	Fukuoka K...Hanioka K	1999
8	Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. ( 9649577 )	Stoffers DA...Habener JF	1998
9	Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ( 8988180 )	Stoffers DA...Habener JF	1997
10	Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. ( 9326926 )	Stoffers DA...Habener JF	1997
11	Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ( 8506821 )	Wright NM...Clarke WL	1993
12	Complete agenesis of the dorsal pancreas--a case report and review of the literature. ( 2199969 )	Wang JT...Wang TH	1990

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Genes for Pancreas, Dorsal, Agenesis of

Genes related to Pancreas, Dorsal, Agenesis of (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	525	Pathogenic ⁶ Genetic Tests ³⁰ Risk factor ⁶	8506821 8988180 9326926 (more) 9649577 19496967 20621032 12970316 20009086

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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	rs1555241857	GRCh37	Chromosome 13, 28498488: 28498488
11	PDX1	NM_000209.3(PDX1): c.502A> C (p.Asn168His)	single nucleotide variant	Likely pathogenic	rs1555241857	GRCh38	Chromosome 13, 27924351: 27924351

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Expression for Pancreas, Dorsal, Agenesis of

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

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Pathways for Pancreas, Dorsal, Agenesis of

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GO Terms for Pancreas, Dorsal, Agenesis of

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