PedAM

Pediatric Disease Annotations & Medicines


	insulinoma

Disease ID	644
Disease	insulinoma
Definition	A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.
Synonym	[m]insulinoma nos [m]insulinoma nos (morphologic abnormality) adenoma, beta cell adenoma, beta-cell adenomas, beta-cell beta cell adenoma beta cell neoplasm beta cell tumor beta cell tumor of pancreas beta cell tumor of the pancreas beta-cell adenoma beta-cell adenomas beta-cell tumor beta-cell tumors insulin-producing islet cell tumor insulin-producing tumor of islet cells insulin-producing tumor of the islet cells insulinoma (disorder) insulinoma (morphologic abnormality) insulinoma [disease/finding] insulinoma, nos insulinomas insuloma insulomas islet cell insulinoma pancreas, islet-cell tumor, insulin-producing pancreatic beta cell tumor pancreatic insulin producing neoplasm pancreatic insulin producing net pancreatic insulin producing tumor pancreatic insulin-producing neuroendocrine tumor pancreatic insulin-producing tumor pancreatic insulinoma tumor, beta-cell tumors, beta-cell
Orphanet	ORPHANET:97279
DOID	DOID:3892
UMLS	C0021670
MeSH	D007340
SNOMED-CT	SNOMEDCT_US_2016_09_01:302822000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C0020598 \| hypoglycemia \| 19 C0011847 \| diabetes \| 5 C0011860 \| type 2 diabetes \| 4 C0011860 \| type 2 diabetes mellitus \| 4 C0011849 \| diabetes mellitus \| 4 C0025267 \| multiple endocrine neoplasia type 1 \| 3 C0027662 \| multiple endocrine neoplasia \| 3 C0020598 \| hypoglycaemia \| 2 C0494165 \| liver metastases \| 2 C0041341 \| tuberous sclerosis \| 1 C0014544 \| epilepsy \| 1 C0023895 \| liver disease \| 1 C0270921 \| axonal neuropathy \| 1 C0011854 \| type 1 diabetes \| 1 C0022661 \| chronic renal failure \| 1 C0022735 \| primary hypogonadism \| 1 C0020459 \| hyperinsulinism \| 1 C0442874 \| neuropathy \| 1 C0494165 \| hepatic metastasis \| 1 C0149521 \| chronic pancreatitis \| 1 C0017150 \| gastrinoma \| 1 C0206754 \| neuroendocrine tumor \| 1 C0020459 \| hyperinsulinemia \| 1 C0035078 \| renal failure \| 1 C0011570 \| depression \| 1 C0041408 \| turner syndrome \| 1 C0020459 \| hyperinsulinaemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MEN1 \| 4221 \| CTD_human;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:238) 9341 \| VAMP3 \| DISEASES 140689 \| CBLN4 \| DISEASES 6343 \| SCT \| DISEASES 27248 \| ERLEC1 \| DISEASES 1113 \| CHGA \| DISEASES 869 \| CBLN1 \| DISEASES 29106 \| SCG3 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 5864 \| RAB3A \| DISEASES 1124 \| CHN2 \| DISEASES 6804 \| STX1A \| DISEASES 2645 \| GCK \| DISEASES 5539 \| PPY \| DISEASES 7466 \| WFS1 \| DISEASES 3458 \| IFNG \| DISEASES 2026 \| ENO2 \| DISEASES 3670 \| ISL1 \| DISEASES 7799 \| PRDM2 \| DISEASES 6402 \| SELL \| DISEASES 6543 \| SLC8A2 \| DISEASES 471 \| ATIC \| DISEASES 6185 \| RPN2 \| DISEASES 79646 \| PANK3 \| DISEASES 9499 \| MYOT \| DISEASES 3375 \| IAPP \| DISEASES 9479 \| MAPK8IP1 \| DISEASES 847 \| CAT \| DISEASES 4852 \| NPY \| DISEASES 50674 \| NEUROG3 \| DISEASES 3659 \| IRF1 \| DISEASES 10047 \| CST8 \| DISEASES 2864 \| FFAR1 \| DISEASES 7425 \| VGF \| DISEASES 3630 \| INS \| DISEASES 239 \| ALOX12 \| DISEASES 3727 \| JUND \| DISEASES 3110 \| MNX1 \| DISEASES 6616 \| SNAP25 \| DISEASES 6754 \| SSTR4 \| DISEASES 6860 \| SYT4 \| DISEASES 28992 \| MACROD1 \| DISEASES 2922 \| GRP \| DISEASES 6927 \| HNF1A \| DISEASES 2572 \| GAD2 \| DISEASES 29113 \| C6orf15 \| DISEASES 6857 \| SYT1 \| DISEASES 7528 \| YY1 \| DISEASES 6855 \| SYP \| DISEASES 3553 \| IL1B \| DISEASES 5775 \| PTPN4 \| DISEASES 9066 \| SYT7 \| DISEASES 8673 \| VAMP8 \| DISEASES 1386 \| ATF2 \| DISEASES 79594 \| MUL1 \| DISEASES 8807 \| IL18RAP \| DISEASES 5443 \| POMC \| DISEASES 23242 \| COBL \| DISEASES 1950 \| EGF \| DISEASES 793 \| CALB1 \| DISEASES 51083 \| GAL \| DISEASES 399979 \| SNX19 \| DISEASES 121260 \| SLC15A4 \| DISEASES 6751 \| SSTR1 \| DISEASES 161253 \| REM2 \| DISEASES 643866 \| CBLN3 \| DISEASES 5045 \| FURIN \| DISEASES 207 \| AKT1 \| DISEASES 5694 \| PSMB6 \| DISEASES 805 \| CALM2 \| DISEASES 55502 \| HES6 \| DISEASES 133 \| ADM \| DISEASES 5741 \| PTH \| DISEASES 5140 \| PDE3B \| DISEASES 2697 \| GJA1 \| DISEASES 1360 \| CPB1 \| DISEASES 6750 \| SST \| DISEASES 23057 \| NMNAT2 \| DISEASES 776 \| CACNA1D \| DISEASES 9133 \| CCNB2 \| DISEASES 3763 \| KCNJ6 \| DISEASES 6781 \| STC1 \| DISEASES 57369 \| GJD2 \| DISEASES 808 \| CALM3 \| DISEASES 6755 \| SSTR5 \| DISEASES 3760 \| KCNJ3 \| DISEASES 4760 \| NEUROD1 \| DISEASES 3625 \| INHBB \| DISEASES 5798 \| PTPRN \| DISEASES 4825 \| NKX6-1 \| DISEASES 6853 \| SYN1 \| DISEASES 6447 \| SCG5 \| DISEASES 7226 \| TRPM2 \| DISEASES 51435 \| SCARA3 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 5068 \| REG3A \| DISEASES 219409 \| GSX1 \| DISEASES 25998 \| IBTK \| DISEASES 3761 \| KCNJ4 \| DISEASES 4884 \| NPTX1 \| DISEASES 5122 \| PCSK1 \| DISEASES 2820 \| GPD2 \| DISEASES 25992 \| SNED1 \| DISEASES 8763 \| CD164 \| DISEASES 26512 \| INTS6 \| DISEASES 836 \| CASP3 \| DISEASES 5771 \| PTPN2 \| DISEASES 7351 \| UCP2 \| DISEASES 3642 \| INSM1 \| DISEASES 3172 \| HNF4A \| DISEASES 6844 \| VAMP2 \| DISEASES 10240 \| MRPS31 \| DISEASES 1442 \| CSH1 \| DISEASES 80153 \| EDC3 \| DISEASES 81618 \| ITM2C \| DISEASES 6514 \| SLC2A2 \| DISEASES 3309 \| HSPA5 \| DISEASES 55553 \| SOX6 \| DISEASES 389692 \| MAFA \| DISEASES 6753 \| SSTR3 \| DISEASES 11099 \| PTPN21 \| DISEASES 2520 \| GAST \| DISEASES 3772 \| KCNJ15 \| DISEASES 796 \| CALCA \| DISEASES 4887 \| NPY2R \| DISEASES 9899 \| SV2B \| DISEASES 885 \| CCK \| DISEASES 4221 \| MEN1 \| DISEASES 135138 \| PACRG \| DISEASES 6645 \| SNTB2 \| DISEASES 817 \| CAMK2D \| DISEASES 5078 \| PAX4 \| DISEASES 3762 \| KCNJ5 \| DISEASES 3329 \| HSPD1 \| DISEASES 84258 \| SYT3 \| DISEASES 285533 \| RNF175 \| DISEASES 126364 \| LRRC25 \| DISEASES 1447 \| CSN2 \| DISEASES 51393 \| TRPV2 \| DISEASES 2305 \| FOXM1 \| DISEASES 2701 \| GJA4 \| DISEASES 3638 \| INSIG1 \| DISEASES 8328 \| GFI1B \| DISEASES 10019 \| SH2B3 \| DISEASES 3767 \| KCNJ11 \| DISEASES 6227 \| RPS21 \| DISEASES 797 \| CALCB \| DISEASES 11259 \| FILIP1L \| DISEASES 6815 \| STYX \| DISEASES 5906 \| RAP1A \| DISEASES 723961 \| INS-IGF2 \| DISEASES 63979 \| FIGNL1 \| DISEASES 801 \| CALM1 \| DISEASES 1996 \| ELAVL4 \| DISEASES 439 \| ASNA1 \| DISEASES 2695 \| GIP \| DISEASES 6752 \| SSTR2 \| DISEASES 54097 \| FAM3B \| DISEASES 2571 \| GAD1 \| DISEASES 5599 \| MAPK8 \| DISEASES 1002 \| CDH4 \| DISEASES 1803 \| DPP4 \| DISEASES 23560 \| GTPBP4 \| DISEASES 10367 \| MICU1 \| DISEASES 2475 \| MTOR \| DISEASES 280 \| AMY2B \| DISEASES 3151 \| HMGN2 \| DISEASES 23038 \| WDTC1 \| DISEASES 5693 \| PSMB5 \| DISEASES 28514 \| DLL1 \| DISEASES 55532 \| SLC30A10 \| DISEASES 81788 \| NUAK2 \| DISEASES 9580 \| SOX13 \| DISEASES 7432 \| VIP \| DISEASES 4817 \| NIT1 \| DISEASES 57549 \| IGSF9 \| DISEASES 115352 \| FCRL3 \| DISEASES 84504 \| NKX6-2 \| DISEASES 23557 \| SNAPIN \| DISEASES 6566 \| SLC16A1 \| DISEASES 3725 \| JUN \| DISEASES 51213 \| LUZP4 \| DISEASES 63935 \| PCIF1 \| DISEASES 310 \| ANXA7 \| DISEASES 2740 \| GLP1R \| DISEASES 9355 \| LHX2 \| DISEASES 8473 \| OGT \| DISEASES 5592 \| PRKG1 \| DISEASES 3710 \| ITPR3 \| DISEASES 5774 \| PTPN3 \| DISEASES 57818 \| G6PC2 \| DISEASES 8660 \| IRS2 \| DISEASES 30813 \| VSX1 \| DISEASES 4821 \| NKX2-2 \| DISEASES 6461 \| SHB \| DISEASES 8718 \| TNFRSF25 \| DISEASES 10590 \| SCGN \| DISEASES 2710 \| GK \| DISEASES 1114 \| CHGB \| DISEASES 190 \| NR0B1 \| DISEASES 5080 \| PAX6 \| DISEASES 2308 \| FOXO1 \| DISEASES 55787 \| TXLNG \| DISEASES 57393 \| TMEM27 \| DISEASES 3150 \| HMGN1 \| DISEASES 3651 \| PDX1 \| DISEASES 8618 \| CADPS \| DISEASES 5799 \| PTPRN2 \| DISEASES 6833 \| ABCC8 \| DISEASES 3898 \| LAD1 \| DISEASES 1443 \| CSH2 \| DISEASES 685 \| BTC \| DISEASES 5137 \| PDE1C \| DISEASES 3382 \| ICA1 \| DISEASES 594857 \| NPS \| DISEASES 4905 \| NSF \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 3166 \| HMX1 \| DISEASES 24144 \| TFIP11 \| DISEASES 3033 \| HADH \| DISEASES 6611 \| SMS \| DISEASES 1363 \| CPE \| DISEASES 23274 \| CLEC16A \| DISEASES 2641 \| GCG \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 3481 \| IGF2 \| DISEASES 7124 \| TNF \| DISEASES 55655 \| NLRP2 \| DISEASES 116 \| ADCYAP1 \| DISEASES 54475 \| NLE1 \| DISEASES 169026 \| SLC30A8 \| DISEASES 846 \| CASR \| DISEASES 22987 \| SV2C \| DISEASES 22999 \| RIMS1 \| DISEASES 5452 \| POU2F2 \| DISEASES 1649 \| DDIT3 \| DISEASES 6209 \| RPS15 \| DISEASES 100126781 \| SNAR-F \| DISEASES
Locus	(Waiting for update.)

Disease ID	644
Disease	insulinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:34) HP:0004372 \| Reduced consciousness/confusion HP:0010534 \| Transient global amnesia HP:0000739 \| Anxiety HP:0002044 \| Zollinger-Ellison syndrome HP:0003324 \| Generalized muscle weakness HP:0010832 \| Abnormality of pain sensation HP:0000708 \| Behavioral abnormality HP:0000364 \| Hearing abnormality HP:0002591 \| Polyphagia HP:0100631 \| Neoplasm of the adrenal gland HP:0001254 \| Lethargy HP:0000504 \| Abnormality of vision HP:0100785 \| Insomnia HP:0002494 \| Abnormal rapid eye movement (REM) sleep HP:0001250 \| Seizures HP:0001958 \| Nonketotic hypoglycemia HP:0008283 \| Fasting hyperinsulinemia HP:0001259 \| Coma HP:0100634 \| Neuroendocrine neoplasm HP:0012378 \| Fatigue HP:0000825 \| Hyperinsulinemic hypoglycemia HP:0000975 \| Hyperhidrosis HP:0006476 \| Abnormality of the pancreatic islet cells HP:0004324 \| Increased body weight HP:0000842 \| Hyperinsulinemia HP:0001988 \| Recurrent hypoglycemia HP:0001962 \| Palpitations HP:0008200 \| Primary hyperparathyroidism HP:0003401 \| Paresthesia HP:0006767 \| Pituitary prolactin cell adenoma HP:0007159 \| Fluctuations in consciousness HP:0012051 \| Reactive hypoglycemia HP:0011446 \| Abnormality of higher mental function HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0001943 \| Hypoglycemia \| 21 HP:0002664 \| Neoplasia \| 6 HP:0000819 \| Diabetes mellitus \| 4 HP:0003162 \| Low blood sugar when fasting \| 3 HP:0100568 \| Endocrine neoplasia \| 2 HP:0012051 \| Low blood sugar after a meal \| 2 HP:0001695 \| Cardiac arrest \| 1 HP:0008720 \| Primary testicular failure \| 1 HP:0000815 \| Primary hypogonadism \| 1 HP:0000716 \| Depression \| 1 HP:0000842 \| Elevated insulin level \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000746 \| Delusions \| 1 HP:0006280 \| Chronic pancreas inflammation \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0001289 \| Confusion \| 1 HP:0001734 \| Annular pancreas \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1

Disease ID	644
Disease	insulinoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0020598 \| hypoglycemia \| 19 C0271708 \| fasting hypoglycemia \| 3 C0020598 \| hypoglycaemia \| 2 C0020459 \| hyperinsulinism \| 1 C0020459 \| hyperinsulinaemia \| 1 C0494165 \| hepatic metastasis \| 1 C0020459 \| hyperinsulinemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908261	18192540	3630	INS	umls:C0021670	BeFree	In type 1 diabetic patients, we found the INS mutation c.163C>T (R55C) in a girl who at 10 years of age presented with ketoacidosis and insulin-dependent, GAD, and insulinoma-associated antigen-2 (IA-2) antibody-negative diabetes.	0.018729489	2008	INS;INS-IGF2	11	2160809	G	A
rs121908261	18192540	2571	GAD1	umls:C0021670	BeFree	In type 1 diabetic patients, we found the INS mutation c.163C>T (R55C) in a girl who at 10 years of age presented with ketoacidosis and insulin-dependent, GAD, and insulinoma-associated antigen-2 (IA-2) antibody-negative diabetes.	0.001357209	2008	INS;INS-IGF2	11	2160809	G	A
rs121908273	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160868	A	G
rs121908274	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159935	C	T
rs121908276	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159883	G	C
rs1801483	8635644	2642	GCGR	umls:C0021670	BeFree	In the present study, the signaling properties of this mutant receptor were examined in baby hamster kidney cells and rat insulinoma cells (RIN-5AH) stably transfected with either the wild type or Gly40Ser mutant human glucagon receptor cDNAs.	0.000271442	1996	GCGR	17	81809839	G	A
rs386834266	24326773	7528	YY1	umls:C0021670	BeFree	T372R mutation alters the expression of YY1 target genes in insulinomas.	0.000271442	2013	YY1;MIR6764	14	100277470	C	G
rs80356663	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160901	G	T,A
rs80356664	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160878	C	T,G
rs80356666	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160845	A	C
rs80356667	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160832	C	A
rs80356668	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2160829	A	G,C
rs80356669	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159920	G	A
rs80356670	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159917	C	A
rs80356671	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159898	C	T,G
rs80356672	20034470	2305	FOXM1	umls:C0021670	BeFree	We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.	0.007328931	2010	INS;INS-IGF2	11	2159862	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0021670	streptozocin	D013311	18883-66-4	insulinoma	MESH:D007340	marker/mechanism	6225653
C0021670	streptozocin	D013311	18883-66-4	insulinoma	MESH:D007340	therapeutic	199092

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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