MCID: PNC045
MIFTS: 44

Pancreatic Agenesis malady

Categories: Genetic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Pancreatic Agenesis

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Sources:
10Disease Ontology, 11diseasecard, 12DISEASES, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pancreatic Agenesis:

Name: Pancreatic Agenesis 10 11 12
Partial Pancreatic Agenesis 10 51
Partial Agenesis of the Pancreas 51
 
Pancreatic Agenesis, Congenital 65
Congenital Pancreatic Agenesis 51

Characteristics:

Orphanet epidemiological data:

51
partial pancreatic agenesis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050877
Orphanet51 2805
ICD10 via Orphanet28 Q45.0
UMLS65 C1850096

Summaries for Pancreatic Agenesis

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Disease Ontology:10 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

MalaCards based summary: Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to congenital heart disease and pancreatic agenesis and congenital heart defects, and has symptoms including intrauterine growth retardation, abnormality of the pancreas and maternal diabetes. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways are Disorders of transmembrane transporters and Development_Leptin signaling via PI3K-dependent pathway. Affiliated tissues include pancreas, heart and spinal cord, and related mouse phenotypes are liver/biliary system and normal.

Related Diseases for Pancreatic Agenesis

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Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 2 Pancreatic Agenesis 1

Diseases related to Pancreatic Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease29.1GATA4, GATA6
2pancreatic agenesis and congenital heart defects12.3
3pancreatic agenesis 212.2
4pancreatic agenesis 112.2
5agenesis of the dorsal pancreas11.6
6pancreatitis10.4
7maturity-onset diabetes of the young, type 1310.3ABCC8, KCNJ11
8usher syndrome, type 1c10.3ABCC8, KCNJ11
9diabetes mellitus, transient neonatal, 310.3ABCC8, KCNJ11
10familial nephrotic syndrome10.3PDX1, PTF1A
11aphasia10.3ABCC8, KCNJ11
12sparse hair-short stature-skin anomalies syndrome10.3ABCC8, KCNJ11
13conversion disorder10.3ABCC8, KCNJ11
14perlman syndrome10.1ABCC8, KCNJ11
15univentricular heart with single atrio-ventricular valve10.1GATA4, GATA6
16neonatal diabetes mellitus10.1
17primary hypertrophic osteoarthropathy10.1ABCC8, KCNJ11
18partial deletion of y10.1GATA4, GATA6
19uterine corpus serous adenocarcinoma10.0GATA4, GATA6
20hepatic flexure cancer9.9ABCC8, KCNJ11
21intermittent claudication9.9ABCC8, INS, PDX1
22acute insulin response9.9ABCC8, INS, KCNJ11
23vitelliform macular dystrophy9.8GATA4, GATA6
24chronic follicular conjunctivitis9.8ABCC8, INS, KCNJ11
25hyperglycemia9.8ABCC8, INS, KCNJ11
26placental choriocarcinoma9.8ABCC8, INS, KCNJ11
27supratentorial cancer9.7GATA4, GATA6
28transmitted_by9.7ABCC8, INS, KCNJ11
29obesity9.7
30pervasive developmental disorder9.7
31portal hypertension9.7
32heart disease9.7
33congenital diaphragmatic hernia9.7
34gastroduodenitis9.7
35renal dysplasia9.7
36monomelic amyotrophy9.5ABCC8, INS, KCNJ11, PDX1
37diaphanospondylodysostosis9.5ABCC8, INS, KCNJ11, PDX1
38femoral neuropathy9.5ABCC8, INS, KCNJ11, PDX1
39nephronophthisis 199.5ABCC8, INS, KCNJ11, PTF1A
40campylobacteriosis9.4GATA4, GATA6
41hepatic adenoma, somatic9.4ABCC8, INS, KCNJ11, PDX1
42diabetes mellitus, noninsulin-dependent9.4ABCC8, INS, KCNJ11, PDX1
43antidepressant type abuse9.2ABCC8, INS, KCNJ11, PDX1, PTF1A
44nonphotosensitive trichothiodystrophy9.0ABCC8, INS, KCNJ11, PDX1, RFX6
45fragile x-associated tremor/ataxia syndrome7.0ABCC8, GATA4, GATA6, HMX1, INS, KCNJ11

Graphical network of the top 20 diseases related to Pancreatic Agenesis:



Diseases related to pancreatic agenesis

Symptoms for Pancreatic Agenesis

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Symptoms:

 51
  • structural anomalies of the pancreas
  • insulin-dependent/type 1 diabetes
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • maternal diabetes

HPO human phenotypes related to Pancreatic Agenesis:

id Description Frequency HPO Source Accession
1 intrauterine growth retardation hallmark (90%) HP:0001511
2 abnormality of the pancreas hallmark (90%) HP:0001732
3 maternal diabetes hallmark (90%) HP:0009800
4 type i diabetes mellitus hallmark (90%) HP:0100651

Drugs & Therapeutics for Pancreatic Agenesis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

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Anatomical Context for Pancreatic Agenesis

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MalaCards organs/tissues related to Pancreatic Agenesis:

33
Pancreas, Heart, Spinal cord, Endothelial, Retina, Skin, T cells

Animal Models for Pancreatic Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Pancreatic Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5GATA4, GATA6, INS, PDX1, PTF1A
2MP:00028738.4GATA4, GATA6, INS, PDX1, PTF1A
3MP:00053818.1GATA4, INS, PDX1, PTF1A, RFX6
4MP:00053697.9GATA4, GATA6, INS, KCNJ11, PDX1
5MP:00053797.4ABCC8, GATA4, INS, KCNJ11, PDX1, PTF1A
6MP:00030127.2ABCC8, GATA4, HMX1, INS, KCNJ11, PDX1
7MP:00053766.7ABCC8, GATA4, GATA6, INS, KCNJ11, PDX1
8MP:00053786.5GATA4, GATA6, HMX1, INS, KCNJ11, PDX1
9MP:00107686.2GATA4, GATA6, HMX1, INS, KCNJ11, PDX1

Publications for Pancreatic Agenesis

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Articles related to Pancreatic Agenesis:

(show all 31)
idTitleAuthorsYear
1
Dorsal pancreatic agenesis: description of CT signs. (26976832)
2016
2
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. (25706805)
2015
3
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. (25791554)
2015
4
MR in complete dorsal pancreatic agenesis: Case report and review of literature. (25024525)
2014
5
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (24212882)
2014
6
A novel mutation in GATA6 causes pancreatic agenesis. (24433315)
2014
7
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (24382792)
2014
8
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. (25584257)
2014
9
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. (23223019)
2013
10
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay. (24310933)
2013
11
Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. (24147249)
2013
12
GATA6 haploinsufficiency causes pancreatic agenesis in humans. (22158542)
2012
13
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. (22806356)
2012
14
Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. (23006325)
2012
15
Laparoscopic imaging of pancreatic agenesis with congenital absence of the gallbladder. (22270042)
2012
16
Education and Imaging: Hepatobiliary and pancreatic: agenesis of the gallbladder. (21488951)
2011
17
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. (20854389)
2010
18
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. (20621032)
2010
19
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. (19496967)
2009
20
Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder. (19646249)
2009
21
Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. (21589822)
2009
22
Neonatal diabetes mellitus due to pancreatic agenesis. (18426328)
2008
23
Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. (18547237)
2008
24
Dorsal pancreatic agenesis. (17625298)
2007
25
Hepatobiliary and pancreatic: agenesis of the dorsal pancreas. (16677169)
2006
26
Pancreatic agenesis as cause for neonatal diabetes mellitus. (15770578)
2005
27
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. (11193482)
2000
28
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (8988180)
1997
29
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
30
Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum. (3443265)
1987
31
Long-term survival in a case of functional pancreatic agenesis. (7000995)
1980

Variations for Pancreatic Agenesis

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Clinvar genetic disease variations for Pancreatic Agenesis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic

Expression for genes affiliated with Pancreatic Agenesis

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Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for genes affiliated with Pancreatic Agenesis

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Pathways related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6ABCC8, KCNJ11
29.6ABCC8, KCNJ11
39.6ABCC8, KCNJ11
49.3GATA4, GATA6
59.3GATA4, GATA6
69.1GATA4, INS
7
Show member pathways
9.1ABCC8, INS, KCNJ11
88.9GATA4, GATA6, PTF1A
9
Show member pathways
8.8ABCC8, INS, KCNJ11, PDX1
10
Show member pathways
8.8ABCC8, INS, KCNJ11, PDX1
118.8ABCC8, INS, KCNJ11, PDX1
12
Show member pathways
8.8INS, PDX1, PTF1A, RFX6
138.5GATA4, INS, PDX1, PTF1A

GO Terms for genes affiliated with Pancreatic Agenesis

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Biological processes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1exocrine pancreas developmentGO:003101710.3PDX1, PTF1A
2type B pancreatic cell differentiationGO:000330910.3GATA6, PDX1
3pancreas developmentGO:003101610.3GATA6, PDX1
4pancreatic A cell differentiationGO:000331010.3GATA6, RFX6
5glucose homeostasisGO:004259310.0PDX1, RFX6
6positive regulation of insulin secretion involved in cellular response to glucose stimulusGO:00357749.9PDX1, RFX6
7transdifferentiationGO:00602909.9GATA4, PDX1
8positive regulation of BMP signaling pathwayGO:00305139.8GATA4, GATA6
9endocrine pancreas developmentGO:00310189.8INS, PDX1, PTF1A
10cardiac muscle cell differentiationGO:00550079.8GATA4, GATA6
11cell fate commitmentGO:00451659.4GATA4, GATA6, PTF1A
12regulation of insulin secretionGO:00507969.3ABCC8, INS, RFX6
13negative regulation of transcription, DNA-templatedGO:00458929.2GATA6, HMX1, PDX1
14transcription from RNA polymerase II promoterGO:00063668.8GATA4, GATA6, PDX1, PTF1A
15response to drugGO:00424938.8ABCC8, GATA4, GATA6
16positive regulation of transcription from RNA polymerase II promoterGO:00459448.5GATA4, PDX1, PTF1A, RFX6
17positive regulation of transcription, DNA-templatedGO:00458938.5GATA4, GATA6, PDX1, PTF1A, RFX6

Molecular functions related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:00152729.6ABCC8, KCNJ11

Sources for Pancreatic Agenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet