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MCID: PSD007
MIFTS: 53

Pseudomyxoma Peritonei

Categories: Rare diseases, Cancer diseases, Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pseudomyxoma Peritonei

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MalaCards integrated aliases for Pseudomyxoma Peritonei:

Name: Pseudomyxoma Peritonei 12 76 53 59 55 44 15 73
Pmp 53 59
Syndrome of Pseudomyxoma Peritonei 53
Gelatinous Ascites 59
Mucinous Ascites 12
Adenomucinosis 59

Characteristics:

Orphanet epidemiological data:

59
pseudomyxoma peritonei
Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:3559
MeSH 44 D011553
NCIt 50 C3345
SNOMED-CT 68 112679004 307601000
Orphanet 59 ORPHA26790
MESH via Orphanet 45 D011553
UMLS via Orphanet 74 C0033822
ICD10 via Orphanet 34 C78.6
UMLS 73 C0033822
Sources

Summaries for Pseudomyxoma Peritonei

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NIH Rare Diseases : 53 Pseudomyxoma peritonei (PMP) is a rare disease characterized by the presence of mucin in the abdominal (peritoneal) cavity. While the most common cause of PMP is appendix cancer, several types of tumors (including non-cancerous tumors) can cause PMP. Signs and symptoms may include an increase in abdominal size or bloating; inguinal hernia (in men); an ovarian mass that may be felt during a routine pelvic exam (in women); pain or discomfort in the abdomen; and/or appendicitis. Treatment depends on the underlying cause of the condition (the location and type of the original tumor, including whether it is malignant) and the extent of spreading. A combination of cytoreductive surgery and hyperthermic intraperitoneal chemotherapy is often the most successful treatment.

MalaCards based summary : Pseudomyxoma Peritonei, also known as pmp, is related to microinvasive gastric cancer and mucinous adenocarcinoma. An important gene associated with Pseudomyxoma Peritonei is MUC2 (Mucin 2, Oligomeric Mucus/Gel-Forming), and among its related pathways/superpathways are Gastric cancer and O-linked glycosylation. The drugs Cisplatin and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include appendix, colon and small intestine, and related phenotypes are ascites and weight loss

Disease Ontology : 12 An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.

Wikipedia : 76 Pseudomyxoma peritonei (PMP) is a clinical condition caused by cancerous cells (mucinous adenocarcinoma)... more...

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Related Diseases for Pseudomyxoma Peritonei

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Diseases related to Pseudomyxoma Peritonei via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 microinvasive gastric cancer 30.9 CDX2 MUC2
2 mucinous adenocarcinoma 30.7 CDX2 KRAS KRT20 KRT7 MUC1 MUC2
3 teratoma 30.3 CDX2 KRT7 TP53
4 mucinous cystadenocarcinoma 30.3 KRT20 KRT7 MUC1 MUC2
5 mature teratoma 29.9 KRAS TP53
6 adenomyoma 29.7 KRT7 MUC1 MUC6
7 cystadenocarcinoma 29.5 KRT7 MUC1 MUC2 TP53
8 lynch syndrome 29.5 KRAS MUC2 TP53
9 adenocarcinoma 29.4 KRAS MUC1 TP53
10 villous adenoma 29.2 CDX2 KRAS KRT20 MUC1
11 cystadenoma 29.2 KRT20 KRT7 MUC1 MUC2 MUC6
12 colloid carcinoma of the pancreas 29.2 KRAS MUC1 MUC2 MUC5AC
13 appendix cancer 28.7 CDX2 KRAS KRT20 KRT7 MUC1 MUC2
14 cystic teratoma 28.2 CDX2 KRT20 KRT7 MUC2 MUC6 TP53
15 ovarian cancer 27.8 KRAS KRT7 MUC1 MUC2 TP53
16 gastric cancer 27.2 CDX2 KRAS MUC2 MUC5AC MUC6 TP53
17 colorectal cancer 25.4 CDX2 KRAS KRT20 MUC1 MUC2 MUC5AC
18 gelatinous ascites 11.9
19 handl syndrome 10.9
20 cystic basal cell carcinoma 10.8 KRT20 KRT7
21 seminal vesicle adenocarcinoma 10.8 KRT20 KRT7
22 transverse colon cancer 10.8 KRT20 KRT7
23 ovarian large-cell neuroendocrine carcinoma 10.8 KRT20 KRT7
24 eyelid neoplasm 10.8 KRT20 KRT7
25 malignant syringoma 10.8 KRT20 KRT7
26 krukenberg carcinoma 10.8 KRT20 KRT7
27 large intestine adenocarcinoma 10.8 KRT20 KRT7
28 linitis plastica 10.8 KRT20 KRT7
29 lung acinar adenocarcinoma 10.8 KRT20 KRT7
30 small cell carcinoma of the bladder 10.8 KRT20 KRT7
31 ovary neuroendocrine neoplasm 10.8 CDX2 KRT7
32 adenoid squamous cell carcinoma 10.7 KRT20 KRT7
33 mucinous adenofibroma 10.7 CDX2 KRT7
34 vulval paget's disease 10.7 KRT20 KRT7
35 intratubular embryonal carcinoma 10.7 KRT20 KRT7
36 meibomian cyst 10.7 KRT20 KRT7
37 bladder lymphoma 10.7 KRT20 KRT7
38 chronic cholangitis 10.7 CDX2 MUC2
39 epithelial predominant wilms' tumor 10.7 CDX2 KRT7
40 medulloepithelioma 10.7 KRT20 KRT7
41 renal pelvis carcinoma 10.7 KRT20 KRT7
42 peritonitis 10.7
43 cap polyposis 10.7 MUC2 MUC5AC
44 infiltrative basal cell carcinoma 10.7 KRT20 KRT7
45 anal gland adenocarcinoma 10.6 KRT7 MUC5AC
46 immune system organ benign neoplasm 10.6 KRT20 KRT7
47 thymus lipoma 10.6 KRT20 KRT7
48 clear cell adenoma 10.6 MUC2 MUC5AC
49 ovarian cystic teratoma 10.6 KRT20 KRT7
50 large cell neuroendocrine carcinoma 10.5 KRT20 KRT7

Graphical network of the top 20 diseases related to Pseudomyxoma Peritonei:



Diseases related to Pseudomyxoma Peritonei
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Symptoms & Phenotypes for Pseudomyxoma Peritonei

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Human phenotypes related to Pseudomyxoma Peritonei:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
2 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
3 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
4 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
5 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
6 inflammation of the large intestine 59 32 frequent (33%) Frequent (79-30%) HP:0002037
7 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
8 abnormality of the peritoneum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002585
9 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
10 abnormality of the abdominal wall 59 32 hallmark (90%) Very frequent (99-80%) HP:0004298
11 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
12 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790

MGI Mouse Phenotypes related to Pseudomyxoma Peritonei:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 CA2 CDX2 KRAS MUC2 MUC5AC TP53
Sources

Drugs & Therapeutics for Pseudomyxoma Peritonei

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Drugs for Pseudomyxoma Peritonei (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Fluorouracil Approved Phase 2 51-21-8 3385
3
Oxaliplatin Approved, Investigational Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
4
Amoxicillin Approved, Vet_approved Phase 2 26787-78-0 33613
5
Clarithromycin Approved Phase 2 81103-11-9 84029
6
Dexlansoprazole Approved, Investigational Phase 2 138530-94-6, 103577-45-3 9578005
7
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
8
nivolumab Approved Phase 2 946414-94-4
9
leucovorin Approved, Nutraceutical Phase 2,Phase 1 58-05-9 143 6006
10 Anti-Infective Agents Phase 2,Phase 1
11 Antimetabolites Phase 2,Phase 1
12 Antimetabolites, Antineoplastic Phase 2,Phase 1
13 Immunosuppressive Agents Phase 2,Phase 1
14 Antacids Phase 2
15 Anti-Bacterial Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Antitubercular Agents Phase 2
18 Anti-Ulcer Agents Phase 2
19 Cytochrome P-450 CYP3A Inhibitors Phase 2
20 Cytochrome P-450 Enzyme Inhibitors Phase 2
21 Gastrointestinal Agents Phase 2
22 Proton Pump Inhibitors Phase 2
23 Antibodies Phase 2
24 Antibodies, Monoclonal Phase 2
25 Immunoglobulins Phase 2
26 Mitomycins Phase 2
27 Alkylating Agents Phase 2
28 Nucleic Acid Synthesis Inhibitors Phase 2
29
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
30
Gemcitabine Approved Phase 1 95058-81-4 60750
31
Floxuridine Approved Phase 1 50-91-9 5790
32
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
33 Pancreatic Polypeptide Investigational Phase 1 59763-91-6
34 Antiviral Agents Phase 1
35 Antidotes Phase 1
36 Calcium, Dietary Phase 1
37 Liver Extracts Phase 1
38 Protective Agents Phase 1
39 Cola Nutraceutical Phase 1
40
Doxorubicin Approved, Investigational 23214-92-8 31703
41
Ifosfamide Approved 3778-73-2 3690
42
Thrombin Approved, Investigational
43
Paclitaxel Approved, Vet_approved 33069-62-4 36314
44
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
45
Doxil Approved June 1999 31703
46 Coagulants
47 Hemostatics
48
Isophosphamide mustard 0
49 Albumin-Bound Paclitaxel
50 Antimitotic Agents

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 HIPEC Using High Intra-abdominal Pressure Completed NCT02949791 Phase 2
2 Antibiotic Treatment and Long-term Outcomes of Patients With Pseudomyxoma Peritonei of Appendiceal Origin Recruiting NCT02387203 Phase 2 PrevPac (Prevacid, Amoxicillin, Clarithromycin)
3 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
4 Single Arm Study Treating Patients of Peritoneal Surface Malignancy (Colorectal, Appendical, Pseudomyxoma, Gastric) With Cytoreductive Surgery and Hyperthermic Intraperitoneal Mitomycin-C Enrolling by invitation NCT02040142 Phase 2
5 A Phase II Study of Surgical Debulking With Peritonectomy and Biweekly Intraperitoneal 5FU With Systemic Oxaliplatin/5FU/Leucovorin in Patients With Pseudomyxoma Peritonei or Peritoneal Carcinomatosis Terminated NCT00352755 Phase 2 Intraperitoneal 5FU;FOLFOX
6 Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer Completed NCT01652794 Phase 1 carboplatin;gemcitabine hydrochloride
7 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1 floxuridine;leucovorin calcium;oxaliplatin
8 Results of CRS and Debulking in PMP Patients Unknown status NCT01427101
9 Thrombin Generation and Platelet Activation in CRS/HIPEC Completed NCT03034850
10 Knowledge, Attitudes, and Practice of Surgeons Toward Nutrition Support in HIPEC Patients Completed NCT02374411
11 Stress Reduction in Improving Quality of Life in Patients With Recurrent Gynecologic or Breast Cancer Completed NCT01764789 Not Applicable
12 Quality of Life and Survivorship Care in Patients Undergoing Hyperthermic Intraperitoneal Chemotherapy (HIPEC) Completed NCT01126346 Not Applicable
13 Crossover Trial of Systemic Chemotherapy in Patients With Metastatic Well-Differentiated Mucinous Appendiceal Adenocarcinomas With Pseudomyxoma Peritonei Recruiting NCT01946854 Not Applicable
14 Register With Patients in Which Hyperthermic Intra-Peritoneal Chemotherapy (HIPEC) Was Performed Recruiting NCT01617382
15 Gastrointestinal Microbiome Study of Appendiceal Cancer Recruiting NCT02599116 Not Applicable
16 Peritoneal Surface Malignancies - Characterization, Models and Treatment Strategies Recruiting NCT02073500
17 International Registry of Patients Treated With Pressurized IntraPeritoneal Aerosol Chemotherapy (PIPAC) Recruiting NCT03210298
18 French National Registry of Rare Peritoneal Surface Malignancies Active, not recruiting NCT02834169
19 Quality of Life After Cytoreductive Surgery and Intraperitoneal Chemotherapy Not yet recruiting NCT03503071

Search NIH Clinical Center for Pseudomyxoma Peritonei

Cochrane evidence based reviews: pseudomyxoma peritonei

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Genetic Tests for Pseudomyxoma Peritonei

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Anatomical Context for Pseudomyxoma Peritonei

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MalaCards organs/tissues related to Pseudomyxoma Peritonei:

41
Appendix, Colon, Small Intestine, Ovary, Liver, Pancreas, Testes
Sources

Publications for Pseudomyxoma Peritonei

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Articles related to Pseudomyxoma Peritonei:

(show top 50) (show all 603)
# Title Authors Year
1
Prediction of Resectability in Pseudomyxoma Peritonei with a New CT Score. ( 29192372 )
2018
2
Laparoscopic approach in complete cytoreductive surgery and hyperthermic intraperitoneal chemotherapy by CO<sub>2</sub> closed system in a low grade pseudomyxoma peritonei. ( 29937297 )
2018
3
Impact of Cellularity on Oncologic Outcomes Following Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemoperfusion for Pseudomyxoma Peritonei. ( 29110275 )
2018
4
Referral and treatment pathways for pseudomyxoma peritonei of appendiceal origin within a national treatment programme. ( 29920919 )
2018
5
Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for pseudomyxoma peritonei of appendicular and extra-appendicular origin. ( 29412465 )
2018
6
Pseudomyxoma peritonei: A case report and review of the literature. ( 29521268 )
2018
7
Analysis of mutation and loss of heterozygosity by whole-exome sequencing yields insights into pseudomyxoma peritonei. ( 29936255 )
2018
8
Long-term Quality of Life After Cytoreductive Surgery and Heated Intraperitoneal Chemotherapy for Pseudomyxoma Peritonei: A Prospective Longitudinal Study. ( 29313146 )
2018
9
Low-dose Pressurized Intrathoracic Aerosol Chemotherapy (PITAC) as an Alternative Therapy for Pleuropulmonary Involvement in Pseudomyxoma Peritonei. ( 29374723 )
2018
10
Mucinous Neoplasm of the Appendix and Pseudomyxoma Peritonei. ( 29406206 )
2018
11
Pseudomyxoma peritonei in a pediatric patient: A case report and literature review. ( 29641675 )
2018
12
Pseudomyxoma Peritonei Arising From Urachal Mucinous Adenocarcinoma. ( 29024737 )
2018
13
Validation of the Recent PSOGI Pathological Classification of Pseudomyxoma Peritonei in a Single-Center Series of 265 Patients Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy. ( 29159742 )
2018
14
The value of grading dysplasia in appendiceal mucinous neoplasm in the absence of pseudomyxoma peritonei. ( 29572977 )
2018
15
An unusual case of pseudomyxoma peritonei associated with synchronous primary mucinous tumors of the ovary and appendix: A case report. ( 28599482 )
2017
16
Pseudomyxoma Peritonei: A Case Report Diagnosed in a 47-Year-Old Woman with Chronic Pelvic Abdominal Pain and Appendicular Origin: Review of the Literature and Management. ( 29326943 )
2017
17
Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy in the management of pseudomyxoma peritonei: A single-center experience. ( 29185227 )
2017
18
A Patient With a Low-grade Mucinous Neoplasm Involving the Ovary and Pseudomyxoma Peritonei Originating in an Isolated Intestinal Duplication. ( 28700427 )
2017
19
Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for pseudomyxoma peritonei and appendix tumours in elderly patients: Is it justified? ( 28812240 )
2017
20
The histopathological classification, diagnosis and differential diagnosis of mucinous appendiceal neoplasms, appendiceal adenocarcinomas and pseudomyxoma peritonei. ( 28746986 )
2017
21
Targeting G-protein coupled receptor-related signaling pathway in a murine xenograft model of appendiceal pseudomyxoma peritonei. ( 29290997 )
2017
22
Carbonic anhydrase II: a novel biomarker for pseudomyxoma peritonei. ( 28233447 )
2017
23
The modified Glasgow prognosis score predicts for overall and disease-free survival following cytoreductive surgery and HIPEC in patients with pseudomyxoma peritonei of appendiceal origin. ( 27866811 )
2017
24
Repeat extraperitoneal cesarean section on a woman with pseudomyxoma peritonei. ( 28388871 )
2017
25
Pseudomyxoma peritonei: natural history and treatment. ( 28540829 )
2017
26
HIV patient with pseudomyxoma peritonei of extra-appendiceal origin is disease-free and alive 9 years after complete cytoreductive surgery. ( 28975983 )
2017
27
Physical and chemical characteristics of mucin secreted by pseudomyxoma peritonei (PMP). ( 28138305 )
2017
28
Palliative Radiation Therapy for Symptom Control in an Advanced Case of Pseudomyxoma Peritonei. ( 28852603 )
2017
29
Haemodynamic changes during hyperthermic intra-thoracic chemotherapy for pseudomyxoma peritonei. ( 28540781 )
2017
30
Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy. ( 28263231 )
2017
31
Diagnosis of Pseudomyxoma peritonei via endoscopic ultrasound guided fine needle aspiration: a case report and review of literature. ( 28155576 )
2017
32
Pseudomyxoma Peritonei as a First Manifestation of KRAS-Mutated Urachal Mucinous Cystadenocarcinoma of the Bladder: A Case Report. ( 28449606 )
2017
33
Anaesthetic management of patients undergoing cytoreductive surgery with hyperthermic intraperitoneal chemotherapy for pseudomyxoma peritonei: a retrospective audit. ( 28673220 )
2017
34
Outcomes of cytoreductive surgery and HIPEC for pseudomyxoma peritonei of appendiceal origin from two Indian centers: A preliminary five-year experience. ( 28365962 )
2017
35
Prediction of clinical outcome using blood flow volume in the superior mesenteric artery in patients with pseudomyxoma peritonei treated by cytoreductive surgery. ( 28587731 )
2017
36
Early Postoperative Intraperitoneal Chemotherapy for Low-Grade Appendiceal Mucinous Neoplasms with Pseudomyxoma Peritonei: Is it Beneficial? ( 27718032 )
2017
37
Urachal mucinous adenocarcinoma with pseudomyxoma peritonei: A case report. ( 28858081 )
2017
38
Synchronous Ovarian and Appendiceal Mucinous Neoplasms in the Absence of Pseudomyxoma Peritonei. ( 27870702 )
2017
39
Computed Tomography Follow-Up Assessment of Patients with Low-Grade Appendiceal Mucinous Neoplasms: Evaluation of Risk for Pseudomyxoma Peritonei. ( 28474197 )
2017
40
Multiple components of PKA and TGF-I^ pathways are mutated in pseudomyxoma peritonei. ( 28426742 )
2017
41
Liver scalloping in pseudomyxoma peritonei. ( 28255672 )
2017
42
Incidentally discovered low-grade appendiceal mucinous neoplasm: a precursor to pseudomyxoma peritonei. ( 27980743 )
2016
43
Expression of CEA, CA19-9, CA125, and EpCAM in pseudomyxoma peritonei. ( 27038681 )
2016
44
Huge pseudomyxoma peritonei: Surgical strategies and procedures to employ to optimize the rate of complete cytoreductive surgery. ( 26868165 )
2016
45
Appendicular mucinous adenocarcinoma associated with pseudomyxoma peritonei, a rare and difficult imaging diagnosis. ( 27239665 )
2016
46
A rare, low-grade appendiceal mucinous neoplasm (Pseudomyxoma peritonei) with ossification: A case report with morphoproteomic analysis of bone formation. ( 27712976 )
2016
47
Preoperative CT and MRI prediction of non-resectability in patients treated for pseudomyxoma peritonei from mucinous appendiceal neoplasms. ( 26856956 )
2016
48
Significance of epithelial cell clusters in pseudomyxoma peritonei. ( 27121698 )
2016
49
Pathology of Mucinous Appendiceal Tumors and Pseudomyxoma Peritonei. ( 27065718 )
2016
50
Can a Benefit be Expected from Surgical Debulking of Unresectable Pseudomyxoma Peritonei? ( 26678404 )
2016
Sources

Variations for Pseudomyxoma Peritonei

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Cosmic variations for Pseudomyxoma Peritonei:

9
(show top 50) (show all 75)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1035874 VHL peritoneum,appendix,other,pseudomyxoma peritonei c.430G>A p.G144R 3:10146603-10146603 8
2 COSM10659 TP53 peritoneum,appendix,other,pseudomyxoma peritonei c.817C>T p.R273C 17:7673803-7673803 8
3 COSM10777 TP53 peritoneum,appendix,other,pseudomyxoma peritonei c.715A>G p.N239D 17:7674248-7674248 8
4 COSM10648 TP53 peritoneum,appendix,other,pseudomyxoma peritonei c.524G>A p.R175H 17:7675088-7675088 8
5 COSM11205 TP53 peritoneum,appendix,other,pseudomyxoma peritonei c.796G>C p.G266R 17:7673824-7673824 8
6 COSM10771 TP53 peritoneum,appendix,other,pseudomyxoma peritonei c.749C>T p.P250L 17:7674214-7674214 8
7 COSM14122 SMAD4 peritoneum,appendix,other,pseudomyxoma peritonei c.1082G>A p.R361H 18:51065549-51065549 8
8 COSM1150828 SMAD4 peritoneum,appendix,other,pseudomyxoma peritonei c.1495T>C p.C499R 18:51078303-51078303 8
9 COSM1150895 SMAD4 peritoneum,appendix,other,pseudomyxoma peritonei c.1157G>A p.G386D 18:51067036-51067036 8
10 COSM4169135 SMAD2 peritoneum,appendix,other,pseudomyxoma peritonei c.1388G>A p.C463Y 18:47841843-47841843 8
11 COSM4169134 SMAD2 peritoneum,appendix,other,pseudomyxoma peritonei c.1400C>T p.S467L 18:47841831-47841831 8
12 COSM4169157 SMAD2 peritoneum,appendix,other,pseudomyxoma peritonei c.1391C>T p.S464L 18:47841840-47841840 8
13 COSM1570338 RET peritoneum,appendix,other,pseudomyxoma peritonei c.2651A>T p.E884V 10:43120124-43120124 8
14 COSM12591 PIK3CA peritoneum,appendix,other,pseudomyxoma peritonei c.3127A>G p.M1043V 3:179234284-179234284 8
15 COSM763 PIK3CA peritoneum,appendix,other,pseudomyxoma peritonei c.1633G>A p.E545K 3:179218303-179218303 8
16 COSM4755600 PDGFRA peritoneum,appendix,other,pseudomyxoma peritonei c.1658C>T p.P553L 4:54274845-54274845 8
17 COSM580 NRAS peritoneum,appendix,other,pseudomyxoma peritonei c.181C>A p.Q61K 1:114713909-114713909 8
18 COSM532 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.38G>A p.G13D 12:25245347-25245347 8
19 COSM521 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.35G>A p.G12D 12:25245350-25245350 8
20 COSM520 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.35G>T p.G12V 12:25245350-25245350 8
21 COSM1169214 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.101C>T p.P34L 12:25245284-25245284 8
22 COSM4169147 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.412G>A p.G138R 12:25225652-25225652 8
23 COSM4169137 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.418C>T p.P140S 12:25225646-25225646 8
24 COSM516 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.34G>T p.G12C 12:25245351-25245351 8
25 COSM539 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.44G>A p.G15D 12:25245341-25245341 8
26 COSM110699 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.29G>A p.G10E 12:25245356-25245356 8
27 COSM3727814 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.91G>A p.E31K 12:25245294-25245294 8
28 COSM4169161 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.59C>T p.T20M 12:25245326-25245326 8
29 COSM51382 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.50G>A p.S17N 12:25245335-25245335 8
30 COSM4169149 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.380C>T p.T127I 12:25225684-25225684 8
31 COSM12722 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.40G>A p.V14I 12:25245345-25245345 8
32 COSM527 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.37G>T p.G13C 12:25245348-25245348 8
33 COSM517 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.34G>A p.G12S 12:25245351-25245351 8
34 COSM1360888 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.28G>A p.G10R 12:25245357-25245357 8
35 COSM529 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.37G>C p.G13R 12:25245348-25245348 8
36 COSM4169153 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.389C>T p.A130V 12:25225675-25225675 8
37 COSM1562184 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.25G>A p.V9I 12:25245360-25245360 8
38 COSM522 KRAS peritoneum,appendix,other,pseudomyxoma peritonei c.35G>C p.G12A 12:25245350-25245350 8
39 COSM27887 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.601C>T p.R201C 20:58909365-58909365 8
40 COSM27895 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.602G>A p.R201H 20:58909366-58909366 8
41 COSM4169145 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.643G>A p.D215N 20:58909407-58909407 8
42 COSM302311 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.692G>A p.R231H 20:58909553-58909553 8
43 COSM4169159 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.596G>A p.R199H 20:58909360-58909360 8
44 COSM4169155 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.706C>T p.Q236* 20:58909567-58909567 8
45 COSM1685346 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.677G>A p.G226D 20:58909538-58909538 8
46 COSM99221 GNAS peritoneum,appendix,other,pseudomyxoma peritonei c.602G>T p.R201L 20:58909366-58909366 8
47 COSM4386691 ATM peritoneum,appendix,other,pseudomyxoma peritonei c.3980T>G p.L1327* 11:108284460-108284460 8
48 COSM33765 AKT1 peritoneum,appendix,other,pseudomyxoma peritonei c.49G>A p.E17K 14:104780214-104780214 8
49 COSM4169138 peritoneum,appendix,other,pseudomyxoma peritonei c.29G>A p.G10E 12:25245356-25245356 8
50 COSM4169136 peritoneum,appendix,other,pseudomyxoma peritonei c.418C>T p.P140S 12:25225646-25225646 8
Sources

Expression for Pseudomyxoma Peritonei

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Search GEO for disease gene expression data for Pseudomyxoma Peritonei.
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Pathways for Pseudomyxoma Peritonei

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Pathways related to Pseudomyxoma Peritonei according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gastric cancer 37
Show member pathways
 12.29 CDX2 KRAS MUC2 TP53
2
O-linked glycosylation 66
Show member pathways
 11.82 MUC1 MUC2 MUC5AC MUC6
3
Diseases of glycosylation 66
Show member pathways
 11.62 MUC1 MUC2 MUC5AC MUC6
4
CLEC7A (Dectin-1) signaling 66
Show member pathways
 11.43 KRAS MUC1 MUC2 MUC5AC MUC6
5
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) 66
Show member pathways
 11.29 MUC1 MUC2 MUC5AC MUC6
Sources

GO Terms for Pseudomyxoma Peritonei

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Cellular components related to Pseudomyxoma Peritonei according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 8.92 MUC1 MUC2 MUC5AC MUC6

Biological processes related to Pseudomyxoma Peritonei according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 MUC1 TP53
2 O-glycan processing GO:0016266 9.26 MUC1 MUC2 MUC5AC MUC6
3 maintenance of gastrointestinal epithelium GO:0030277 9.16 MUC2 MUC6
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.02 KRAS MUC1 MUC2 MUC5AC MUC6
Sources

Sources for Pseudomyxoma Peritonei

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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