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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Digestive System Neoplasms (D004067)
Parent Node: Endocrine Gland Neoplasms (D004701)
Parent Node: Pancreatic Diseases (D010182)
..Starting node ..Pancreatic Neoplasms (D010190)
Child Nodes:
........Adenoma, Islet Cell (D007516) 2
........Carcinoma, Islet Cell (D018273) 4
........Carcinoma, Pancreatic Ductal (D021441)
........Gastro-enteropancreatic neuroendocrine tumor (C535650)
........Islet cell tumor syndrome (C531777)
........Melanoma-Pancreatic Cancer Syndrome (C563985)
........Non functioning pancreatic endocrine tumor (C536126)
........Pancreatic adenoma (C538110)
........Pancreatic cancer, adult (C535836)
........Pancreatic Carcinoma (C562463)
........Pancreatic carcinoma, familial (C535837)
........Pancreatic Lymphoma, Familial (C566516)
........Pancreatoblastoma (C537162)
........Pheochromocytoma Islet Cell Tumor Syndrome (C566807)
Sister Nodes:
..Annular pancreas (C536376)
..Congenital Hyperinsulinism (D044903) 2
..Cystic Fibrosis (D003550) 4
..Exocrine Pancreatic Insufficiency (D010188) 3
..Johanson Blizzard syndrome (C535880)
..Pancreatic Agenesis, Congenital (C564908)
..Pancreatic Cyst (D010181) 2
..Pancreatic Fistula (D010185)
..Pancreatic lipomatosis duodenal stenosis (C535839)
..Pancreatic Neoplasms (D010190) 20
..Pancreatitis (D010195) 8
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8551

Name:

Pancreatic Neoplasms

Definition:

Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).

Alternative IDs:

OMIM:260350|OMIM:606856|OMIM:613347|OMIM:613348

ParentIDs:

MESH:D004067|MESH:D004701|MESH:D010182

TreeNumbers:

C04.588.274.761 |C04.588.322.475 |C06.301.761 |C06.689.667 |C19.344.421

Synonyms:

Slim Mappings:

Cancer|Digestive system disease|Endocrine system disease

Reference:

MedGen: D010190
MeSH: D010190
OMIM: 260350;

Genes: BRCA2; KRAS; PALB2; PALLD; SMAD4; STK11; TP53;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0410067	Increased level of L-fucose in urine
3	HP:0002894	Neoplasm of the pancreas
4	HP:0001428	Somatic mutation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020328.3(ACVR1B):c.1282_1286delGATGA (p.Asp428Asnfs)	91	ACVR1B	Pathogenic	387906389	RCV000008710;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	12	52380624	52380628	NM_020328.3:c.1282_1286delGATGA	NP_064733.3:p.Asp428Asnfs	NC_000012.11:g.52380624_52380628delGATGA	OMIM Allelic Variant:601300.0001	C0235974 260350 Carcinoma of pancreas
NM_020328.3(ACVR1B):c.1385-502_1515+24del	91	ACVR1B	Pathogenic	-1	RCV000008711;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	12	52385145	52385801	NM_020328.3:c.1385-502_1515+24del			OMIM Allelic Variant:601300.0002,dbVar:nssv3761578,dbVar:nsv1067872	C0235974 260350 Carcinoma of pancreas
NM_033360.3(KRAS):c.35G>A (p.Gly12Asp)	3845	KRAS	Pathogenic	121913529	RCV000144969; RCV000144970; RCV000150896; RCV000022799; RCV000150897; RCV000013411; RCV000013412; RCV000029214; RCV000029215;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0007131,SNOMED CT:254637007; MedGen:C0038356,OMIM:613659,SNOMED CT:126824007; MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; Me	12	25398284	25398284	NM_033360.3:c.35G>A	NP_203524.1:p.Gly12Asp	NC_000012.11:g.25398284C>A,NC_000012.11:g.25398284C>G,NC_000012.11:g.25398284C>T	OMIM Allelic Variant:190070.0005	C0235974 260350 Carcinoma of pancreas; C0265318 163200 Epidermal nevus syndrome; C0919267 167000 Neoplasm of ovary; C0038356 613659 Neoplasm of stomach; C0007131 Non-small cell lung cancer
NM_004985.4(KRAS):c.35G>T (p.Gly12Val)	3845	KRAS	Pathogenic	121913529	RCV000150895; RCV000154262; RCV000013413; RCV000029216; RCV000157944;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002; MedGen:C0349639,OMIM:607785,ORPHA:86834; MedGen:C0853032; MedGen:CN221809	12	25398284	25398284	NM_004985.4:c.35G>T	NP_004976.2:p.Gly12Val	NC_000012.11:g.25398284C>A,NC_000012.11:g.25398284C>G,NC_000012.11:g.25398284C>T	OMIM Allelic Variant:190070.0006	C0235974 260350 Carcinoma of pancreas; C0349639 607785 Juvenile myelomonocytic leukemia; C0853032 Nevus sebaceous; C0007131 Non-small cell lung cancer; CN221809 not provided
NM_002894.2(RBBP8):c.1009A>G (p.Lys337Glu)	5932	RBBP8	Pathogenic	121434388	RCV000006180;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	18	20572799	20572799	NM_002894.2:c.1009A>G	NP_002885.1:p.Lys337Glu	NC_000018.9:g.20572799A>G	OMIM Allelic Variant:604124.0001	C0235974 260350 Carcinoma of pancreas
NM_005359.5(SMAD4):c.1072G>T (p.Gly358Ter)	4089	SMAD4	Pathogenic	121912576	RCV000009062;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	18	48591909	48591909	NM_005359.5:c.1072G>T	NP_005350.1:p.Gly358Ter	NC_000018.9:g.48591909G>T	OMIM Allelic Variant:600993.0001	C0235974 260350 Carcinoma of pancreas
NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter)	4089	SMAD4	Pathogenic	121912577	RCV000021726; RCV000009063;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002; MedGen:C0345893,OMIM:	18	48593485	48593485	NM_005359.5:c.1236C>G	NP_005350.1:p.Tyr412Ter	NC_000018.9:g.48593485C>G	ARUP_SMAD4:NM_005359.5:c.1236C>G,OMIM Allelic Variant:600993.0002	C0235974 260350 Carcinoma of pancreas; C0345893 174900 Juvenile polyposis syndrome
NM_005359.5(SMAD4):c.1477G>C (p.Asp493His)	4089	SMAD4	Pathogenic	121912578	RCV000009064;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	18	48604655	48604655	NM_005359.5:c.1477G>C	NP_005350.1:p.Asp493His	NC_000018.9:g.48604655G>C	OMIM Allelic Variant:600993.0003	C0235974 260350 Carcinoma of pancreas
NM_005359.5(SMAD4):c.1543A>T (p.Arg515Ter)	4089	SMAD4	Pathogenic	121912579	RCV000009065;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	18	48604721	48604721	NM_005359.5:c.1543A>T	NP_005350.1:p.Arg515Ter	NC_000018.9:g.48604721A>T	OMIM Allelic Variant:600993.0004	C0235974 260350 Carcinoma of pancreas
NM_000455.4(STK11):c.108C>A (p.Tyr36Ter)	6794	STK11	Pathogenic	137853079	RCV000007878;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	19	1207020	1207020	NM_000455.4:c.108C>A	NP_000446.1:p.Tyr36Ter	NC_000019.9:g.1207020C>A	OMIM Allelic Variant:602216.0015	C0235974 260350 Carcinoma of pancreas
NM_000455.4(STK11):c.650delC (p.Pro217Argfs)	6794	STK11	Pathogenic	397518442	RCV000007879;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	19	1220632	1220632	NM_000455.4:c.650delC	NP_000446.1:p.Pro217Argfs	NC_000019.9:g.1220632delC	OMIM Allelic Variant:602216.0016	C0235974 260350 Carcinoma of pancreas
NM_000455.4(STK11):c.936delA (p.Lys312Asnfs)	6794	STK11	Pathogenic	397518443	RCV000007880;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	19	1222999	1222999	NM_000455.4:c.936delA	NP_000446.1:p.Lys312Asnfs	NC_000019.9:g.1222999delA	OMIM Allelic Variant:602216.0017	C0235974 260350 Carcinoma of pancreas
NM_000546.5(TP53):c.105G>T (p.Leu35Phe)	7157	TP53	Pathogenic	121912661	RCV000013170;	N	MedGen:C0235974,OMIM:260350,ORPHA:217074,SNOMED CT:372142002	17	7579582	7579582	NM_000546.5:c.105G>T	NP_000537.3:p.Leu35Phe	NC_000017.10:g.7579582C>A,NC_000017.10:g.7579582C>G	OMIM Allelic Variant:191170.0027	C0235974 260350 Carcinoma of pancreas