Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the endocrine system (HP:0100568)help
Grandparent Node:
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Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
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Neuroendocrine neoplasm (HP:0100634)help
..Starting node
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Pancreatic endocrine tumor (HP:0030405)help
Term ID: 30405
Name: Pancreatic endocrine tumor
Synonym: Pancreatic endocrine tumour
Definition: A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.
Comments:
Reference: HP:0030405
Genes and Diseases:
 
       Child Nodes:
........expandPancreatic islet cell adenoma (HP:0008261) help
................... HP:0008194 Multiple pancreatic beta-cell adenomas
................... HP:0012197 Insulinoma
........expandGlucagonoma (HP:0030404) help

 Sister Nodes: 
..expandCarcinoid tumor (HP:0100570) help
..expandParaganglioma (HP:0002668) help
..expandPheochromocytoma (HP:0002666) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030405HP:0030405Pancreatic endocrine tumor0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0030405HP:0030405Pancreatic endocrine tumor0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0030405HP:0030405Pancreatic endocrine tumor0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0030405HP:0030405Pancreatic endocrine tumor0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0030405HP:0030405Pancreatic endocrine tumor0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0030405HP:0030405Pancreatic endocrine tumor0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0030405HP:0030405Pancreatic endocrine tumor0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0030405HP:0030405Pancreatic endocrine tumor0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0030405HP:0030405Pancreatic endocrine tumor0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0030405HP:0030405Pancreatic endocrine tumor0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0030405HP:0030405Pancreatic endocrine tumor0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0030405HP:0008261Pancreatic islet cell adenoma1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0030405HP:0030404Glucagonoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0030405HP:0008261Pancreatic islet cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0030405HP:0030404Glucagonoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0030405HP:0008261Pancreatic islet cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0030405HP:0008261Pancreatic islet cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0030405HP:0008261Pancreatic islet cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0030405HP:0030404Glucagonoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0030405HP:0008261Pancreatic islet cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0030405HP:0030404Glucagonoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0030405HP:0030404Glucagonoma1GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemiaHP:0040282 - Frequent1
HP:0030405HP:0008261Pancreatic islet cell adenoma1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0030405HP:0008261Pancreatic islet cell adenoma1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0030405HP:0008261Pancreatic islet cell adenoma1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0030405HP:0030404Glucagonoma1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0030405HP:0030404Glucagonoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0030405HP:0008261Pancreatic islet cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0030405HP:0008261Pancreatic islet cell adenoma1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0030405HP:0012197Insulinoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0030405HP:0012197Insulinoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0030405HP:0012197Insulinoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0030405HP:0012197Insulinoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0030405HP:0012197Insulinoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0030405HP:0008194Multiple pancreatic beta-cell adenomas2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0030405HP:0012197Insulinoma2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0030405HP:0008194Multiple pancreatic beta-cell adenomas2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0030405HP:0012197Insulinoma2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0030405HP:0012197Insulinoma2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462


Genes (13) :CCND1 CDKN1A CDKN1B CDKN2B CDKN2C GCGR IFNG KCNJ11 MAFA MEN1 TSC1 TSC2 VHL

Diseases (9) :ORPHA:892 ORPHA:652 ORPHA:276152 OMIM:610755 ORPHA:438274 ORPHA:805 ORPHA:79644 OMIM:147630 OMIM:131100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.