MCID: PNC120
MIFTS: 28
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Pancreas, Dorsal, Agenesis of
Categories:
Endocrine diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Pancreas, Dorsal, Agenesis of:
Characteristics:Orphanet epidemiological data:58
partial pancreatic agenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
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 congenital pancreatic agenesis, is related to pancreatic agenesis and pancreatitis. 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 Cells and Lineage-specific Markers and Regulation of beta-cell development. Affiliated tissues include pancreas and heart, and related phenotypes are diabetes mellitus and abnormality of the pancreas OMIM : 56 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) |
Human phenotypes related to Pancreas, Dorsal, Agenesis of:31
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MalaCards organs/tissues related to Pancreas, Dorsal, Agenesis of:40
Pancreas,
Heart
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Articles related to Pancreas, Dorsal, Agenesis of:(show all 14)
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for disease gene expression data for Pancreas, Dorsal, Agenesis of.
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Biological processes related to Pancreas, Dorsal, Agenesis of according to GeneCards Suite gene sharing:
Molecular functions related to Pancreas, Dorsal, Agenesis of according to GeneCards Suite gene sharing:
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