MCID: RRC013
MIFTS: 34

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 58
Rare Pancreatic Carcinoma 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 44 D010190
UMLS via Orphanet 72 C0235974 C0346647
Orphanet 58 ORPHA217074

Summaries for Rare Carcinoma of Pancreas

MalaCards based summary : Rare Carcinoma of Pancreas, also known as rare pancreatic carcinoma, is related to serous cystadenocarcinoma 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, lung and colon, 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 102)
# Related Disease Score Top Affiliating Genes
1 serous cystadenocarcinoma 10.1 TP53 KRAS
2 hyperplastic polyposis syndrome 10.1 TP53 KRAS
3 rare adenocarcinoma of the breast 10.1 TP53 KRAS
4 wolffian duct adenocarcinoma 10.1 TP53 KRAS
5 liver angiosarcoma 10.1 TP53 KRAS
6 angiosarcoma 10.1 TP53 KRAS
7 biliary tract benign neoplasm 10.1 TP53 KRAS
8 endosalpingiosis 10.1 TP53 KRAS
9 appendix disease 10.1 TP53 KRAS
10 mucinous adenocarcinoma 10.1 TP53 KRAS
11 appendix cancer 10.1 TP53 KRAS
12 papillary adenoma 10.1 TP53 KRAS
13 ovarian benign neoplasm 10.1 TP53 KRAS
14 endometrioid ovary carcinoma 10.0 TP53 KRAS
15 uterine corpus serous adenocarcinoma 10.0 TP53 KRAS
16 nasal cavity cancer 10.0 TP53 KRAS
17 female reproductive endometrioid cancer 10.0 TP53 KRAS
18 uterine body mixed cancer 10.0 TP53 KRAS
19 anus cancer 10.0 TP53 KRAS
20 mature teratoma 10.0 TP53 KRAS
21 papillary serous adenocarcinoma 10.0 TP53 KRAS
22 respiratory system benign neoplasm 10.0 TP53 KRAS
23 pseudomyxoma peritonei 10.0 TP53 KRAS
24 rectum adenocarcinoma 10.0 TP53 KRAS
25 signet ring cell adenocarcinoma 10.0 TP53 KRAS
26 mixed cell type cancer 10.0 TP53 KRAS
27 cystic teratoma 10.0 TP53 KRAS
28 lung adenoma 10.0 TP53 KRAS
29 pulmonary blastoma 10.0 TP53 KRAS
30 uterine corpus cancer 10.0 TP53 KRAS
31 uterine benign neoplasm 10.0 TP53 KRAS
32 pancreatic intraductal papillary-mucinous neoplasm 10.0 SMAD4 KRAS
33 large intestine adenocarcinoma 10.0 TP53 SMAD4
34 thyroid tumor 10.0 TP53 KRAS
35 pancreatic acinar cell adenocarcinoma 10.0 SMAD4 KRAS
36 reproductive organ benign neoplasm 10.0 TP53 KRAS
37 small intestine adenocarcinoma 10.0 SMAD4 KRAS
38 colonic benign neoplasm 10.0 TP53 KRAS
39 ovarian serous carcinoma 10.0 TP53 KRAS
40 urethra clear cell adenocarcinoma 10.0 TP53 SMAD4
41 clear cell adenocarcinoma 10.0 TP53 SMAD4
42 papillary adenocarcinoma 10.0 TP53 KRAS
43 neurofibromatosis, type iv, of riccardi 10.0 TP53 KRAS
44 duodenum cancer 10.0 SMAD4 KRAS
45 ovarian clear cell carcinoma 10.0 TP53 KRAS
46 differentiated thyroid carcinoma 9.9 TP53 KRAS
47 endometrial adenocarcinoma 9.9 TP53 KRAS
48 small cell carcinoma 9.9 TP53 KRAS
49 pancreatic ductal carcinoma 9.9 TP53 SMAD4
50 endometrial hyperplasia 9.9 TP53 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:

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

40
Pancreas, Lung, Colon, Small Intestine, Thyroid, Breast, Ovary

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. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STK11 NM_000455.4(STK11):c.108C>A (p.Tyr36Ter)SNV Pathogenic 7452 rs137853079 19:1207020-1207020 19:1207021-1207021
2 STK11 NM_000455.4(STK11):c.650del (p.Pro217fs)deletion Pathogenic 7453 rs397518442 19:1220629-1220629 19:1220630-1220630
3 STK11 NM_000455.4(STK11):c.936del (p.Lys312fs)deletion Pathogenic 7454 rs397518443 19:1222997-1222997 19:1222998-1222998
4 ACVR1B NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs)deletion Pathogenic 8227 rs387906389 12:52380624-52380628 12:51986840-51986844
5 ACVR1B NM_004302.5(ACVR1B):c.1262-502_1392+24deldeletion Pathogenic 8228 rs1555162597 12:52385141-52385797 12:51991357-51992013
6 SMAD4 NM_005359.5(SMAD4):c.1072G>T (p.Gly358Ter)SNV Pathogenic 8536 rs121912576 18:48591909-48591909 18:51065539-51065539
7 SMAD4 NM_005359.5(SMAD4):c.1477G>C (p.Asp493His)SNV Pathogenic 8538 rs121912578 18:48604655-48604655 18:51078285-51078285
8 SMAD4 NM_005359.5(SMAD4):c.1543A>T (p.Arg515Ter)SNV Pathogenic 8539 rs121912579 18:48604721-48604721 18:51078351-51078351
9 TP53 NM_000546.5(TP53):c.743G>A (p.Arg248Gln)SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
10 TP53 NM_000546.5(TP53):c.818G>A (p.Arg273His)SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802
11 TP53 NM_000546.5(TP53):c.105G>T (p.Leu35Phe)SNV Pathogenic 12371 rs121912661 17:7579582-7579582 17:7676264-7676264
12 TP53 NM_000546.5(TP53):c.524G>A (p.Arg175His)SNV Pathogenic 12374 rs28934578 17:7578406-7578406 17:7675088-7675088
13 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
14 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
15 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
16 SMAD4 NM_005359.5(SMAD4):c.1082G>A (p.Arg361His)SNV Pathogenic 24832 rs377767347 18:48591919-48591919 18:51065549-51065549
17 SMAD4 NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter)SNV Pathogenic 24845 rs121912577 18:48593485-48593485 18:51067115-51067115
18 SMAD4 NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val)SNV Pathogenic 30150 rs281875322 18:48604676-48604676 18:51078306-51078306
19 SMAD4 NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)deletion Pathogenic 142253 rs80338965 18:48593491-48593494 18:51067121-51067124
20 TP53 NM_000546.5(TP53):c.559+1G>ASNV Pathogenic/Likely pathogenic 428908 rs1131691042 17:7578370-7578370 17:7675052-7675052
21 TP53 NM_000546.5(TP53):c.96+1G>TSNV Pathogenic/Likely pathogenic 482212 rs1131691003 17:7579699-7579699 17:7676381-7676381
22 TP53 NM_000546.5(TP53):c.799C>T (p.Arg267Trp)SNV Likely pathogenic 141764 rs55832599 17:7577139-7577139 17:7673821-7673821
23 STK11 NM_000455.4(STK11):c.719C>G (p.Ser240Trp)SNV Likely pathogenic 182902 rs730881976 19:1220701-1220701 19:1220702-1220702
24 SMAD4 NM_005359.5(SMAD4):c.677C>T (p.Ala226Val)SNV Conflicting interpretations of pathogenicity 182869 rs539739051 18:48584504-48584504 18:51058134-51058134
25 STK11 NM_000455.4(STK11):c.632G>A (p.Arg211Gln)SNV Conflicting interpretations of pathogenicity 182910 rs730881982 19:1220614-1220614 19:1220615-1220615
26 PALLD NM_001166108.2(PALLD):c.1040C>T (p.Thr347Met)SNV Conflicting interpretations of pathogenicity 128094 rs150711066 4:169589472-169589472 4:168668321-168668321
27 PALLD NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser)SNV Conflicting interpretations of pathogenicity 128095 rs140454899 4:169606648-169606648 4:168685497-168685497
28 PALLD NM_001166108.2(PALLD):c.1289G>A (p.Arg430Gln)SNV Conflicting interpretations of pathogenicity 128096 rs145571230 4:169606664-169606664 4:168685513-168685513
29 PALLD NM_001166108.2(PALLD):c.1394G>A (p.Arg465His)SNV Conflicting interpretations of pathogenicity 128097 rs115372194 4:169611812-169611812 4:168690661-168690661
30 PALLD NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg)SNV Conflicting interpretations of pathogenicity 128101 rs139375029 4:169812192-169812192 4:168891041-168891041
31 PALLD NM_001166108.2(PALLD):c.539C>T (p.Thr180Ile)SNV Conflicting interpretations of pathogenicity 128111 rs146387060 4:169433194-169433194 4:168512043-168512043
32 PALLD NM_001166108.2(PALLD):c.731A>G (p.Gln244Arg)SNV Conflicting interpretations of pathogenicity 128113 rs114946738 4:169433386-169433386 4:168512235-168512235
33 TP53 NM_000546.5(TP53):c.466C>T (p.Arg156Cys)SNV Conflicting interpretations of pathogenicity 127810 rs563378859 17:7578464-7578464 17:7675146-7675146
34 PALLD NM_001166108.2(PALLD):c.909A>T (p.Arg303Ser)SNV Conflicting interpretations of pathogenicity 128115 rs138897963 4:169589341-169589341 4:168668190-168668190
35 PALLD NM_001166108.2(PALLD):c.2199+8G>ASNV Conflicting interpretations of pathogenicity 136011 rs200060953 4:169815836-169815836 4:168894685-168894685
36 PALLD NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr)SNV Conflicting interpretations of pathogenicity 136014 rs142116575 4:169819786-169819786 4:168898635-168898635
37 PALLD NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys)SNV Conflicting interpretations of pathogenicity 348045 rs548068667 4:169845492-169845492 4:168924341-168924341
38 PALLD NM_001166108.2(PALLD):c.365C>T (p.Pro122Leu)SNV Conflicting interpretations of pathogenicity 348028 rs116158771 4:169433020-169433020 4:168511869-168511869
39 PALLD NM_001166108.2(PALLD):c.1386C>T (p.Cys462=)SNV Uncertain significance 348038 rs199755853 4:169611804-169611804 4:168690653-168690653
40 PALLD NM_001166108.2(PALLD):c.*1011_*1014dupduplication Uncertain significance 348056 rs1363457314 4:169848340-169848341 4:168927189-168927190
41 PALLD NM_001166108.2(PALLD):c.*2184G>ASNV Uncertain significance 348077 rs769635594 4:169849515-169849515 4:168928364-168928364
42 PALLD NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu)SNV Uncertain significance 348039 rs201816881 4:169611851-169611851 4:168690700-168690700
43 PALLD NM_001166108.2(PALLD):c.1842T>A (p.His614Gln)SNV Uncertain significance 348041 rs150443035 4:169632952-169632952 4:168711801-168711801
44 STK11 NM_000455.4(STK11):c.566C>T (p.Thr189Ile)SNV Uncertain significance 141128 rs587781515 19:1220473-1220473 19:1220474-1220474
45 STK11 NM_000455.4(STK11):c.464+5G>ASNV Uncertain significance 141354 rs587781681 19:1219417-1219417 19:1219418-1219418
46 STK11 NM_000455.4(STK11):c.1243C>G (p.Arg415Gly)SNV Uncertain significance 220264 rs864622448 19:1226587-1226587 19:1226588-1226588
47 RBBP8 NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)SNV Uncertain significance 5824 rs121434388 18:20572799-20572799 18:22992836-22992836
48 SMAD4 NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser)SNV Uncertain significance 142165 rs139569694 18:48591943-48591943 18:51065573-51065573
49 STK11 NM_000455.4(STK11):c.1012G>A (p.Val338Met)SNV Uncertain significance 142198 rs587782302 19:1223075-1223075 19:1223076-1223076
50 PALLD NM_001166108.2(PALLD):c.-139G>TSNV Uncertain significance 348022 rs886059208 4:169418289-169418289 4:168497138-168497138

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 24)
# 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
Show member pathways
12 TP53 SMAD4 ACVR1B
8 11.97 TP53 SMAD4 KRAS
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 11.64 SMAD4 KRAS ACVR1B
13 11.59 SMAD4 ACVR1B
14
Show member pathways
11.57 STK11 SMAD4 KRAS
15 11.51 TP53 SMAD4
16 11.45 TP53 KRAS
17 11.42 TP53 KRAS
18 11.39 TP53 KRAS
19 11.39 TP53 SMAD4 KRAS
20 11.26 TP53 SMAD4
21
Show member pathways
11.24 SMAD4 ACVR1B
22 11.11 TP53 STK11 SMAD4 KRAS
23 10.99 SMAD4 KRAS
24 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 positive regulation of gene expression GO:0010628 9.61 TP53 KRAS ACVR1B
2 negative regulation of cell proliferation GO:0008285 9.58 TP53 STK11 SMAD4
3 Ras protein signal transduction GO:0007265 9.46 TP53 KRAS
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.37 SMAD4 ACVR1B
5 gastrulation GO:0007369 9.32 TP53 SMAD4
6 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.26 STK11 SMAD4
7 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.16 TP53 STK11
8 in utero embryonic development GO:0001701 9.13 TP53 SMAD4 ACVR1B
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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