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 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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of digestive system

Agenesis, aplasia and hypoplasia of pancreas

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

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

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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)

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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 38)

#	Related Disease	Score	Top Affiliating Genes
1	pancreatic agenesis	31.8	PTF1A PDX1
2	neonatal diabetes mellitus	29.0	PTF1A PDX1
3	diabetes mellitus, permanent neonatal	28.9	PTF1A PDX1
4	diabetes mellitus	28.8	PTF1A PDX1
5	yorifuji okuno syndrome	11.4
6	heart defects, congenital, and other congenital anomalies	11.3
7	acute pancreatitis	10.3
8	hyperglycemia	10.3
9	pancreatitis	10.3
10	obstructive jaundice	10.1
11	alcoholic pancreatitis	10.1
12	heterotaxy	10.1
13	pancreas, annular	10.0
14	peutz-jeghers syndrome	10.0
15	neural tube defects	10.0
16	pancreatic cancer	10.0
17	pancreatic agenesis 1	10.0
18	bile duct cysts	10.0
19	microvascular complications of diabetes 5	10.0
20	choledocholithiasis	10.0
21	heart septal defect	10.0
22	cystic teratoma	10.0
23	mucinous adenocarcinoma	10.0
24	neurilemmoma	10.0
25	teratoma	10.0
26	appendix adenocarcinoma	10.0
27	double outlet right ventricle	10.0
28	ileus	10.0
29	47,xyy	10.0
30	diabetes mellitus, 6q24-related transient neonatal	10.0
31	back pain	10.0
32	recurrent acute pancreatitis	10.0
33	maturity-onset diabetes of the young	9.9
34	maturity-onset diabetes of the young, type 4	9.9
35	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	9.8
36	hydrocephalus	9.8
37	congenital hydrocephalus	9.8
38	exocrine pancreatic insufficiency	9.5	PTF1A PDX1

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:

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

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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 ²⁹	PDX1

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Anatomical Context for Pancreas, Dorsal, Agenesis of

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

⁴¹

Pancreas

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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	Fajans SS...Chen M	20621032	2010
2	A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. ⁷¹	Nicolino M...Julier C	20009086	2010
3	Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. ⁷¹	Thomas IH...Fajans SS	19496967	2009
4	Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. ⁷¹	Schwitzgebel VM...Philippe J	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	Stoffers DA...Habener JF	9649577	1998
6	Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. ⁷¹	Stoffers DA...Habener JF	9326926	1997
7	Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. ⁷¹	Stoffers DA...Habener JF	8988180	1997
8	Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. ⁷¹	Wright NM...Clarke WL	8506821	1993
9	Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. ⁸	Wildling R...Krejs GJ	8462806	1993
10	The role of pancreatic imaging in monogenic diabetes mellitus. ³⁸	Haldorsen IS...Njolstad PR	22124438	2011
11	Calcifying pancreatitis of a congenital short pancreas: a case report with successful endoscopic papillotomy. ³⁸	Bretagne JF...Gastard J	3687908	1987
12	Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. ³⁸	Lehman GA...Rogge JD	3443265	1987

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Genes for Pancreas, Dorsal, Agenesis of

Genes related to Pancreas, Dorsal, Agenesis of (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	875	Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Risk factor ⁶	12970316 8506821 9649577 (more) 9326926 20621032 8988180 19496967 20009086
2	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	350	Causative germline mutation ⁵⁹

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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

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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

Pathways related to Pancreas, Dorsal, Agenesis of according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.08	PTF1A PDX1
2	Regulation of beta-cell development ⁶⁶ Show member pathways Maturity onset diabetes of the young ³⁷ Regulation of gene expression in beta cells ⁶⁶ Regulation of gene expression in early pancreatic precursor cells ⁶⁶ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁶ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁶	10.62	PTF1A PDX1

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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

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