MCID: PNC045
MIFTS: 41

Pancreatic Agenesis malady

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

Aliases & Classifications for Pancreatic Agenesis

About this section
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

About this section
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 pancreatic agenesis and congenital heart defects and pancreatic agenesis 2, 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, retina and spinal cord, and related mouse phenotypes are liver/biliary system and normal.

Related Diseases for Pancreatic Agenesis

About this section

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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic agenesis and congenital heart defects12.6
2pancreatic agenesis 212.6
3pancreatic agenesis 112.6
4agenesis of the dorsal pancreas11.6
5maturity-onset diabetes of the young, type 1310.2ABCC8, KCNJ11
6usher syndrome, type 1c10.2ABCC8, KCNJ11
7diabetes mellitus, transient neonatal, 310.2ABCC8, KCNJ11
8familial nephrotic syndrome10.2PDX1, PTF1A
9aphasia10.2ABCC8, KCNJ11
10sparse hair-short stature-skin anomalies syndrome10.2ABCC8, KCNJ11
11conversion disorder10.2ABCC8, KCNJ11
12perlman syndrome10.1ABCC8, KCNJ11
13univentricular heart with single atrio-ventricular valve10.1GATA4, GATA6
14primary hypertrophic osteoarthropathy10.0ABCC8, KCNJ11
15partial deletion of y10.0GATA4, GATA6
16leukemia10.0
17myeloid leukemia10.0
18endotheliitis10.0
19uterine corpus serous adenocarcinoma10.0GATA4, GATA6
20hepatic flexure cancer9.9ABCC8, KCNJ11
21intermittent claudication9.9ABCC8, INS, PDX1
22acute insulin response9.9ABCC8, INS, KCNJ11
23vitelliform macular dystrophy9.9GATA4, GATA6
24chronic follicular conjunctivitis9.9ABCC8, INS, KCNJ11
25schizophrenia9.9
26atopy9.9
27asthma9.9
28chronic granulomatous disease9.9
29nephrolithiasis9.9
30omphalocele9.9
31neuroretinitis9.9
32varicocele9.9
33down syndrome9.9
34cholera9.9
35cervicitis9.9
36retinitis9.9
37cranial nerve palsy9.9
38angiokeratoma9.9
39hyperglycemia9.9ABCC8, INS, KCNJ11
40placental choriocarcinoma9.8ABCC8, INS, KCNJ11
41congenital heart disease9.8GATA4, GATA6
42supratentorial cancer9.8GATA4, GATA6
43transmitted_by9.8ABCC8, INS, KCNJ11
44monomelic amyotrophy9.7ABCC8, INS, KCNJ11, PDX1
45diaphanospondylodysostosis9.7ABCC8, INS, KCNJ11, PDX1
46femoral neuropathy9.7ABCC8, INS, KCNJ11, PDX1
47nephronophthisis 199.7ABCC8, INS, KCNJ11, PTF1A
48campylobacteriosis9.6GATA4, GATA6
49hepatic adenoma, somatic9.6ABCC8, INS, KCNJ11, PDX1
50diabetes mellitus, noninsulin-dependent9.6ABCC8, INS, KCNJ11, PDX1

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



Diseases related to pancreatic agenesis

Symptoms for Pancreatic Agenesis

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

About this section

Anatomical Context for Pancreatic Agenesis

About this section

MalaCards organs/tissues related to Pancreatic Agenesis:

33
Pancreas, Retina, Spinal cord, Skeletal muscle, T cells

Animal Models for Pancreatic Agenesis or affiliated genes

About this section

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

About this section

Articles related to Pancreatic Agenesis:

(show all 30)
idTitleAuthorsYear
1
Case 2/2015 a 33-year-old woman with double right ventricular chamber and ventricular septal defect. (25830858)
2015
2
Amyotrophic lateral sclerosis: an update on recent genetic insights. (24085347)
2013
3
Effect of dual-task interference on the hand flexibility of patients with Parkinson's disease carrying the leucine-rich repeat kinase 2 gene mutation. (24255677)
2013
4
Variants in the genes encoding TNF-I+, IL-10, and GSTP1 influence the effect of I+-tocopherol on inflammatory cell responses in healthy men. (22572643)
2012
5
Differential expression of Kv1.3 and Kv1.5 voltage-dependent K+ channels in human skeletal muscle sarcomas. (22360360)
2012
6
Reduced expression of Tis7/IFRD1 protein in murine and human cystic fibrosis airway epithelial cell models homozygous for the F508del-CFTR mutation. (21723850)
2011
7
Successful management of aortic thrombi resulting in spinal cord infarction in a patient with antiphospholipid antibody syndrome and acute cholecystitis. (23754914)
2011
8
BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia. (20807888)
2010
9
Definitive engagement of cytotoxic CD8 T cells in C protein-induced myositis, a murine model of polymyositis. (20583106)
2010
10
Differential regulation of dopamine transporter function and location by low concentrations of environmental estrogens and 17beta-estradiol. (19479021)
2009
11
Evaluation and treatment of osteochondritis dissecans lesions of the knee. (18500061)
2008
12
Regulation of KCNQ4 potassium channel prepulse dependence and current amplitude by SGK1 in Xenopus oocytes. (16301825)
2005
13
Effect of treatment of rheumatoid arthritis with infliximab on IFN gamma, IL4, T-bet, and GATA-3 expression: link with improvement of systemic inflammation and disease activity. (15286007)
2005
14
Antitumor activity of cationic liposome-mediated Bax gene transfer in osteosarcoma cells: induction of apoptosis and caspase-independent cell death. (16010425)
2005
15
Study of portal vein thrombosis in patients with idiopathic portal hypertension in Japan. (16162156)
2005
16
Biochemical and ultrastructural studies in the neural retina and retinal pigment epithelium of STZ-diabetic rats: effect of captopril. (11777181)
2001
17
Significance of K-ras mutation and CEA level in pancreatic juice in the diagnosis of pancreatic cancer. (10982594)
2000
18
Giardiasis surveillance--United States, 1992-1997. (10955980)
2000
19
STAT5 activation correlates with erythropoietin receptor-mediated erythroid differentiation of an erythroleukemia cell line. (9079629)
1997
20
Vortex keratopathy in a patient with multiple myeloma. (9294696)
1997
21
EJ-Ras inhibits phospholipase C gamma 1 but not actin polymerization induced by platelet-derived growth factor-BB via phosphatidylinositol 3-kinase. (8575075)
1996
22
Molecular forms of adenosine deaminase do not aid the diagnosis of tuberculosis. (9015506)
1996
23
Vesicular stomatitis virus transcription inhibited by purified MxA protein. (7831809)
1995
24
Tennis elbow (lateral epicondylitis). (1729672)
1992
25
Cystic teratoma of the mediastinum: demonstration of fat/fluid level. (2105009)
1990
26
Occupational dermatitis in a butcher. (6241129)
1984
27
A variant of western equine encephalitis virus with nonglycosylated E3 protein. (6829167)
1983
28
Sirenomelia. Angiographic demonstration of vascular anomalies. (6896449)
1982
29
Elastosis perforans serpiginosa associated with morphea. An example of &quot;performing morphea&quot;. (7400416)
1980
30
Pleural tuberculosis. (6051438)
1967

Variations for Pancreatic Agenesis

About this section

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

About this section
Search GEO for disease gene expression data for Pancreatic Agenesis.

Pathways for genes affiliated with Pancreatic Agenesis

About this section

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

About this section

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

About this section
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