Pancreatic agenesis

Common Name(s)

Pancreatic agenesis

Pancreatic agenesis is a rare condition that occurs when the pancreas fails to develop before birth. The severity depends on how much functional pancreatic tissue is present. Children with this condition usually have permanent neonatal diabetes mellitus due to a lack of insulin. Pancreatic agenesis can also be associated with abnormalities in other parts of the body. Mutations in the GATA6, PDX1, and PTF1A genes have been found to cause pancreatic agenesis.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pancreatic agenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pancreatic agenesis" returned 12 free, full-text research articles on human participants. First 3 results:

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
 

Author(s): Daphne Yau, Elisa De Franco, Sarah E Flanagan, Sian Ellard, Miriam Blumenkrantz, John J Mitchell

Journal:

 

Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the ...

Last Updated: 4 Jan 2017

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Successful Pancreatic Duct Stent Placement for Recurrent Pancreatitis in a Patient with Polysplenia with Agenesis of the Dorsal Pancreas and Peutz-Jeghers Syndrome.
 

Author(s): Shintaro Kawasaki, Takao Itoi, Eisuke Iwasaki, Naoki Hosoe, Haruhiko Ogata, Takanori Kanai

Journal: Intern. Med.. 2016 ;55(13):1743-6.

 

A 52-year-old woman presented with relapsing acute pancreatitis. A contrast CT scan revealed polysplenia, agenesis of the dorsal pancreas, preduodenal portal vein, inferior vena cava with persistent continuity of the azygos vein, abnormal lung lobation with bilateral left bronchial ...

Last Updated: 4 Jul 2016

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Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
 

Author(s): Christina S Chao, Kristen D McKnight, Kenneth L Cox, Anne L Chang, Seung K Kim, Brian J Feldman

Journal:

 

Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is ...

Last Updated: 24 Feb 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pancreatic agenesis" returned 1 free, full-text review articles on human participants. First 3 results:

The novel triad of dorsal agenesis of the pancreas with concurrent pancreatic ductal adenocarcinoma and nonalcoholic chronic calcific pancreatitis: a case series and review of the literature.
 

Author(s): David W Rittenhouse, Eugene P Kennedy, Andres A Mascaro, Jennifer L Brumbaugh, Louis H Stein, Laura H Rosenberger, Patricia K Sauter, Charles J Yeo, Harish Lavu

Journal: J. Gastrointest. Surg.. 2011 Sep;15(9):1643-9.

 

Dorsal agenesis of the pancreas (DAP) is a rare congenital anomaly, with only 44 cases having been reported in the English literature since 1966.

Last Updated: 23 Aug 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Investigations of Childhood Cancer Predisposition
 

Status: Recruiting

Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

 

Last Updated: 11 Oct 2017

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Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Transfusion Dependent Alpha- or Beta- Thalassemia; Diamond Blackfan Anemia; Paroxysmal Nocturnal Hemoglobinuria; Glanzmann Thrombasthenia; Severe Congenital Neutropenia; Shwachman-Diamond Syndrome; Non-Malignant Hematologic Disorders

 

Last Updated: 4 Oct 2017

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CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndrome; Severe Aplastic Anemia; Severe Congenital Neutropenia; Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Schwachman Diamond Syndrome; Primary Immunodeficiency Syndromes; Acquired Immunodeficiency Syndromes; Histiocytic Syndrome; Familial Hemophagocytic Lymphocytosis; Lymphohistiocytosis; Macrophage Activation Syndrome; Langerhans Cell Histiocytosis (LCH); Hemoglobinopathies; Sickle Cell Disease; Sickle Cell-beta-thalassemia

 

Last Updated: 13 Jul 2017

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