Pancreas, Dorsal, Agenesis of

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OMIM 57 167755 MedGen 42 C1868659

SNOMED-CT via HPO 69 263681008 73211009 3855007 UMLS 73 C1850096

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 pancreatitis and diabetes mellitus. An important gene associated with Pancreas, Dorsal, Agenesis of is PDX1 (Pancreatic And Duodenal Homeobox 1). 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)

Clinical features from OMIM:

167755

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