MCID: RRC013
MIFTS: 32

Rare Carcinoma of Pancreas

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Rare Carcinoma of Pancreas

MalaCards integrated aliases for Rare Carcinoma of Pancreas:

Name: Rare Carcinoma of Pancreas 59
Rare Pancreatic Carcinoma 59

Characteristics:

Orphanet epidemiological data:

59
rare carcinoma of pancreas
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

MESH via Orphanet 45 D010190
UMLS via Orphanet 73 C0235974 C0346647
Orphanet 59 ORPHA217074

Summaries for Rare Carcinoma of Pancreas

MalaCards based summary : Rare Carcinoma of Pancreas, also known as rare pancreatic carcinoma, is related to rare adenocarcinoma of the breast and hyperplastic polyposis syndrome. An important gene associated with Rare Carcinoma of Pancreas is ACVR1B (Activin A Receptor Type 1B), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include pancreas, and related phenotypes are cellular and craniofacial

Related Diseases for Rare Carcinoma of Pancreas

Diseases related to Rare Carcinoma of Pancreas via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 rare adenocarcinoma of the breast 10.2 TP53 KRAS
2 hyperplastic polyposis syndrome 10.2 TP53 KRAS
3 nasal cavity adenocarcinoma 10.2 TP53 KRAS
4 mature teratoma 10.2 TP53 KRAS
5 biliary papillomatosis 10.1 TP53 KRAS
6 pulmonary blastoma 10.1 TP53 KRAS
7 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 TP53 KRAS
8 liver angiosarcoma 10.1 TP53 KRAS
9 pseudomyxoma peritonei 10.1 TP53 KRAS
10 ampulla of vater cancer 10.1 TP53 KRAS
11 barrett's adenocarcinoma 10.1 TP53 KRAS
12 bile duct adenocarcinoma 10.1 TP53 KRAS
13 ovary adenocarcinoma 10.1 TP53 KRAS
14 gastrointestinal system benign neoplasm 10.1 TP53 KRAS
15 intestinal benign neoplasm 10.1 TP53 KRAS
16 ovarian clear cell carcinoma 10.1 TP53 KRAS
17 lung benign neoplasm 10.1 TP53 KRAS
18 ovary epithelial cancer 10.1 TP53 KRAS
19 malignant ovarian surface epithelial-stromal neoplasm 10.1 TP53 KRAS
20 esophagus adenocarcinoma 10.1 TP53 SMAD4
21 colloid carcinoma of the pancreas 10.0 SMAD4 KRAS
22 ovarian cancer 1 10.0 TP53 KRAS
23 acinar cell carcinoma 10.0 TP53 SMAD4
24 adenosquamous carcinoma 10.0 TP53 KRAS
25 cell type benign neoplasm 10.0 TP53 KRAS
26 colorectal adenoma 10.0 TP53 KRAS
27 pancreatic ductal carcinoma 10.0 TP53 SMAD4
28 carcinosarcoma 10.0 TP53 KRAS
29 colonic disease 10.0 TP53 KRAS
30 leukemia, chronic lymphocytic 2 9.9 TP53 KRAS
31 colorectal adenocarcinoma 9.9 TP53 KRAS
32 endometrial adenocarcinoma 9.9 TP53 KRAS
33 differentiated thyroid carcinoma 9.8 TP53 KRAS
34 juvenile polyposis syndrome 9.7 STK11 SMAD4
35 intrahepatic cholangiocarcinoma 9.7 TP53 KRAS
36 suppression of tumorigenicity 12 9.7 TP53 SMAD4
37 mutyh-associated polyposis 9.6 TP53 SMAD4 KRAS
38 pancreas disease 9.6 TP53 SMAD4 KRAS
39 gastrointestinal system cancer 9.6 TP53 SMAD4 KRAS
40 endocrine gland cancer 9.6 TP53 SMAD4 KRAS
41 familial adenomatous polyposis 9.6 TP53 SMAD4 KRAS
42 adenoma 9.6 TP53 SMAD4 KRAS
43 breast adenocarcinoma 9.6 TP53 SMAD4 KRAS
44 cholangiocarcinoma 9.6 TP53 SMAD4 KRAS
45 large intestine cancer 9.5 TP53 SMAD4 KRAS
46 testicular germ cell tumor 9.5 TP53 STK11
47 gastric adenocarcinoma 9.5 TP53 SMAD4 KRAS
48 respiratory system disease 9.5 TP53 KRAS
49 respiratory system cancer 9.4 TP53 STK11 KRAS
50 intestinal disease 9.4 TP53 STK11 KRAS

Graphical network of the top 20 diseases related to Rare Carcinoma of Pancreas:



Diseases related to Rare Carcinoma of Pancreas

Symptoms & Phenotypes for Rare Carcinoma of Pancreas

MGI Mouse Phenotypes related to Rare Carcinoma of Pancreas:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 ACVR1B KRAS SMAD4 STK11 TP53
2 craniofacial MP:0005382 9.95 ACVR1B KRAS SMAD4 STK11 TP53
3 digestive/alimentary MP:0005381 9.93 ACVR1B KRAS SMAD4 STK11 TP53
4 embryo MP:0005380 9.92 ACVR1B KRAS SMAD4 STK11 TP53
5 endocrine/exocrine gland MP:0005379 9.91 ACVR1B KRAS SMAD4 STK11 TP53
6 growth/size/body region MP:0005378 9.89 ACVR1B KRAS SMAD4 STK11 TP53
7 integument MP:0010771 9.88 ACVR1B KRAS SMAD4 STK11 TP53
8 nervous system MP:0003631 9.77 ACVR1B KRAS SMAD4 STK11 TP53
9 liver/biliary system MP:0005370 9.76 KRAS SMAD4 STK11 TP53
10 muscle MP:0005369 9.73 KRAS SMAD4 STK11 TP53
11 neoplasm MP:0002006 9.71 KRAS SMAD4 STK11 TP53
12 normal MP:0002873 9.65 ACVR1B KRAS SMAD4 STK11 TP53
13 no phenotypic analysis MP:0003012 9.62 ACVR1B KRAS STK11 TP53
14 renal/urinary system MP:0005367 9.46 KRAS SMAD4 STK11 TP53
15 reproductive system MP:0005389 9.35 ACVR1B KRAS SMAD4 STK11 TP53
16 respiratory system MP:0005388 8.92 ACVR1B KRAS STK11 TP53

Drugs & Therapeutics for Rare Carcinoma of Pancreas

Search Clinical Trials , NIH Clinical Center for Rare Carcinoma of Pancreas

Genetic Tests for Rare Carcinoma of Pancreas

Anatomical Context for Rare Carcinoma of Pancreas

MalaCards organs/tissues related to Rare Carcinoma of Pancreas:

41
Pancreas

Publications for Rare Carcinoma of Pancreas

Articles related to Rare Carcinoma of Pancreas:

# Title Authors PMID Year
1
New-onset diabetes mellitus as a harbinger of pancreatic carcinoma. A case report and literature review. 38
2661661 1989

Variations for Rare Carcinoma of Pancreas

ClinVar genetic disease variations for Rare Carcinoma of Pancreas:

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STK11 NM_000455.4(STK11): c.108C> A (p.Tyr36Ter) single nucleotide variant Pathogenic rs137853079 19:1207020-1207020 19:1207021-1207021
2 STK11 NM_000455.4(STK11): c.650del (p.Pro217fs) deletion Pathogenic rs397518442 19:1220632-1220632 19:1220633-1220633
3 STK11 NM_000455.4(STK11): c.936del (p.Lys312fs) deletion Pathogenic rs397518443 19:1222999-1222999 19:1223000-1223000
4 ACVR1B NM_020328.4(ACVR1B): c.1282_1286del (p.Asp428fs) deletion Pathogenic rs387906389 12:52380624-52380628 12:51986840-51986844
5 ACVR1B NM_020328.4(ACVR1B): c.1385-502_1515+24del deletion Pathogenic rs1555162597 12:52385145-52385801 12:51991361-51992017
6 SMAD4 NM_005359.5(SMAD4): c.1072G> T (p.Gly358Ter) single nucleotide variant Pathogenic rs121912576 18:48591909-48591909 18:51065539-51065539
7 SMAD4 NM_005359.5(SMAD4): c.1477G> C (p.Asp493His) single nucleotide variant Pathogenic rs121912578 18:48604655-48604655 18:51078285-51078285
8 SMAD4 NM_005359.5(SMAD4): c.1543A> T (p.Arg515Ter) single nucleotide variant Pathogenic rs121912579 18:48604721-48604721 18:51078351-51078351
9 TP53 NM_000546.5(TP53): c.105G> T (p.Leu35Phe) single nucleotide variant Pathogenic rs121912661 17:7579582-7579582 17:7676264-7676264
10 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 17:7578406-7578406 17:7675088-7675088
11 KRAS NM_004985.5(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 12:25398284-25398284 12:25245350-25245350
12 KRAS NM_004985.5(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 12:25398284-25398284 12:25245350-25245350
13 KRAS NM_004985.5(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 12:25362838-25362838 12:25209904-25209904
14 SMAD4 NM_005359.5(SMAD4): c.1082G> A (p.Arg361His) single nucleotide variant Pathogenic rs377767347 18:48591919-48591919 18:51065549-51065549
15 SMAD4 NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter) single nucleotide variant Pathogenic rs121912577 18:48593485-48593485 18:51067115-51067115
16 SMAD4 NM_005359.5(SMAD4): c.1498A> G (p.Ile500Val) single nucleotide variant Pathogenic rs281875322 18:48604676-48604676 18:51078306-51078306
17 SMAD4 NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs) deletion Pathogenic rs80338965 18:48593494-48593497 18:51067124-51067127
18 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
19 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
20 TP53 NM_000546.5(TP53): c.559+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1131691042 17:7578370-7578370 17:7675052-7675052
21 TP53 NM_000546.5(TP53): c.96+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1131691003 17:7579699-7579699 17:7676381-7676381
22 TP53 NM_000546.5(TP53): c.799C> T (p.Arg267Trp) single nucleotide variant Likely pathogenic rs55832599 17:7577139-7577139 17:7673821-7673821
23 STK11 NM_000455.4(STK11): c.719C> G (p.Ser240Trp) single nucleotide variant Likely pathogenic rs730881976 19:1220701-1220701 19:1220702-1220702
24 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 18:48584504-48584504 18:51058134-51058134
25 STK11 NM_000455.4(STK11): c.632G> A (p.Arg211Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730881982 19:1220614-1220614 19:1220615-1220615
26 PALLD NM_016081.4(PALLD): c.3094C> T (p.Arg1032Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs548068667 4:169845492-169845492 4:168924341-168924341
27 PALLD NM_016081.4(PALLD): c.909A> T (p.Arg303Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138897963 4:169589341-169589341 4:168668190-168668190
28 PALLD NM_016081.4(PALLD): c.2084T> G (p.Leu695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139375029 4:169812192-169812192 4:168891041-168891041
29 PALLD NM_016081.4(PALLD): c.539C> T (p.Thr180Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146387060 4:169433194-169433194 4:168512043-168512043
30 PALLD NM_016081.4(PALLD): c.731A> G (p.Gln244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs114946738 4:169433386-169433386 4:168512235-168512235
31 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 17:7578464-7578464 17:7675146-7675146
32 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 17:7577091-7577091 17:7673773-7673773
33 PALLD NM_016081.4(PALLD): c.1040C> T (p.Thr347Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150711066 4:169589472-169589472 4:168668321-168668321
34 PALLD NM_016081.4(PALLD): c.1273A> T (p.Thr425Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140454899 4:169606648-169606648 4:168685497-168685497
35 PALLD NM_016081.4(PALLD): c.1289G> A (p.Arg430Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145571230 4:169606664-169606664 4:168685513-168685513
36 PALLD NM_016081.4(PALLD): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs115372194 4:169611812-169611812 4:168690661-168690661
37 SMAD4 NM_005359.5(SMAD4): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs759288477 18:48581262-48581262 18:51054892-51054892
38 SMAD4 NM_005359.5(SMAD4): c.1219G> C (p.Val407Leu) single nucleotide variant Uncertain significance rs147621330 18:48593468-48593468 18:51067098-51067098
39 TP53 NM_000546.5(TP53): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs746601313 17:7577521-7577521 17:7674203-7674203
40 STK11 NM_000455.4(STK11): c.1195C> A (p.Gln399Lys) single nucleotide variant Uncertain significance rs1060499968 19:1226539-1226539 19:1226540-1226540
41 SMAD4 NM_005359.5(SMAD4): c.181A> G (p.Ile61Val) single nucleotide variant Uncertain significance rs1064794204 18:48573597-48573597 18:51047227-51047227
42 RBBP8 NM_002894.3(RBBP8): c.1009A> G (p.Lys337Glu) single nucleotide variant Uncertain significance rs121434388 18:20572799-20572799 18:22992836-22992836
43 STK11 NM_000455.4(STK11): c.566C> T (p.Thr189Ile) single nucleotide variant Uncertain significance rs587781515 19:1220473-1220473 19:1220474-1220474
44 STK11 NM_000455.4(STK11): c.464+5G> A single nucleotide variant Uncertain significance rs587781681 19:1219417-1219417 19:1219418-1219418
45 PALLD NM_016081.4(PALLD): c.*1011_*1014dup duplication Uncertain significance rs1363457314 4:169848342-169848345 4:168927191-168927194
46 PALLD NM_016081.4(PALLD): c.*2184G> A single nucleotide variant Uncertain significance rs769635594 4:169849515-169849515 4:168928364-168928364
47 PALLD NM_016081.4(PALLD): c.-172C> A single nucleotide variant Uncertain significance rs777479051 4:169418256-169418256 4:168497105-168497105
48 PALLD NM_016081.4(PALLD): c.-139G> T single nucleotide variant Uncertain significance rs886059208 4:169418289-169418289 4:168497138-168497138
49 PALLD NM_016081.4(PALLD): c.1433G> A (p.Gly478Glu) single nucleotide variant Uncertain significance rs201816881 4:169611851-169611851 4:168690700-168690700
50 PALLD NM_016081.4(PALLD): c.1842T> A (p.His614Gln) single nucleotide variant Uncertain significance rs150443035 4:169632952-169632952 4:168711801-168711801

Expression for Rare Carcinoma of Pancreas

Search GEO for disease gene expression data for Rare Carcinoma of Pancreas.

Pathways for Rare Carcinoma of Pancreas

Pathways related to Rare Carcinoma of Pancreas according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 TP53 SMAD4 KRAS
2 12.5 TP53 SMAD4 KRAS
3 12.41 TP53 KRAS ACVR1B
4
Show member pathways
12.4 TP53 SMAD4 KRAS
5
Show member pathways
12.17 TP53 STK11 KRAS
6
Show member pathways
12.09 TP53 KRAS ACVR1B
7 11.99 TP53 SMAD4 KRAS
8
Show member pathways
11.98 TP53 SMAD4 ACVR1B
9 11.83 TP53 SMAD4 KRAS
10
Show member pathways
11.79 TP53 KRAS ACVR1B
11
Show member pathways
11.72 TP53 STK11 KRAS
12 11.66 TP53 SMAD4
13 11.64 SMAD4 KRAS ACVR1B
14 11.63 SMAD4 KRAS
15 11.61 SMAD4 KRAS
16 11.59 SMAD4 ACVR1B
17
Show member pathways
11.57 STK11 SMAD4 KRAS
18 11.52 TP53 SMAD4
19 11.45 TP53 KRAS
20 11.41 TP53 KRAS
21 11.4 TP53 KRAS
22 11.39 TP53 SMAD4 KRAS
23 11.26 TP53 SMAD4
24
Show member pathways
11.24 SMAD4 ACVR1B
25 11.11 TP53 STK11 SMAD4 KRAS
26 11.04 TP53 KRAS
27 10.99 SMAD4 KRAS
28 10.76 TP53 STK11 SMAD4

GO Terms for Rare Carcinoma of Pancreas

Biological processes related to Rare Carcinoma of Pancreas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.54 TP53 STK11 SMAD4
2 positive regulation of gene expression GO:0010628 9.5 TP53 KRAS ACVR1B
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.46 SMAD4 ACVR1B
4 regulation of signal transduction by p53 class mediator GO:1901796 9.43 TP53 STK11
5 Ras protein signal transduction GO:0007265 9.4 TP53 KRAS
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 SMAD4 ACVR1B
7 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.16 STK11 SMAD4
8 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 8.96 TP53 STK11
9 negative regulation of cell growth GO:0030308 8.92 TP53 STK11 SMAD4 ACVR1B

Molecular functions related to Rare Carcinoma of Pancreas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 9.16 TP53 STK11
2 RNA polymerase II transcription factor binding GO:0001085 8.96 TP53 SMAD4
3 LRR domain binding GO:0030275 8.62 STK11 KRAS

Sources for Rare Carcinoma of Pancreas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....