MCID: BLD087
MIFTS: 51

Bladder Cancer, Somatic malady

Categories: Genetic diseases (common), Cancer diseases, Nephrological diseases

Aliases & Classifications for Bladder Cancer, Somatic

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Aliases & Descriptions for Bladder Cancer, Somatic:

Name: Bladder Cancer, Somatic 49 11 22
Bladder Carcinoma 32 10 47 12
Carcinoma of Bladder 10 65
Bladder Cancer 67 35
Malignant Neoplasm of Urinary Bladder 65
Urothelial Carcinoma of the Bladder 67
 
Carcinoma of Urinary Bladder 10
Urinary Bladder Cancer 67
Cancer of the Bladder 24
Carcinoma Bladder 10
Blc 67

Characteristics:

HPO:

61
bladder cancer, somatic:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 109800
Disease Ontology10 DOID:4007
NCIt42 C4912
MedGen34 C0005684
MeSH36 D001749
UMLS65 C0699885

Summaries for Bladder Cancer, Somatic

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MedlinePlus:35 The bladder is a hollow organ in your lower abdomen that stores urine. bladder cancer occurs in the lining of the bladder. it is the sixth most common type of cancer in the united states. symptoms include blood in your urine a frequent urge to urinate pain when you urinate low back pain risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. people with a family history of bladder cancer or who are older, white, or male have a higher risk. treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. biologic therapy boosts your body's own ability to fight cancer. nih: national cancer institute

MalaCards based summary: Bladder Cancer, Somatic, also known as bladder carcinoma, is related to glioma and ovarian cancer, and has symptoms including transitional cell carcinoma of the bladder An important gene associated with Bladder Cancer, Somatic is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are p38MAPK events and Transcriptional activation of p53 responsive genes. Related mouse phenotypes are liver/biliary system and limbs/digits/tail.

Disease Ontology:10 A urinary bladder cancer that has material basis in abnormally proliferating cells derives from epithelial cells.

UniProtKB/Swiss-Prot:67 Bladder cancer: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences.

Genetics Home Reference:23 Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC).

Description from OMIM:49 109800

Related Diseases for Bladder Cancer, Somatic

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Diseases related to Bladder Cancer, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 657)
idRelated DiseaseScoreTop Affiliating Genes
1glioma30.9CDKN1A, CDKN2A, ERBB2, RB1, TP53
2ovarian cancer30.9KRT20, UPK3A
3prostate cancer30.7CD44, CDH1, CDKN1A, ERBB2, EZH2, GSTP1
4acute pancreatitis30.6CDKN2A, FGFR3, TP53
5scrapie30.6FGFR3, KRT20, TP53, UPK3A
6breast cancer30.6CD44, CDH1, CDKN1A, ERBB2, EZH2, GNL3
7osteoblastoma30.6ERBB2, MKI67, TP53
8hepatocellular carcinoma30.6CDH1, CDKN1A, CDKN2A, EZH2, GSTP1, RASSF1
9vascular dementia30.6CDH1, CDKN2A, ERBB2, TP53
10pancreatic cancer30.6CDH1, CDKN2A, RASSF1, TP53
11proctitis30.5CDH1, CDKN2A, ERBB2, KRAS, TP53
12vasculitis30.5CD44, CDH1, CDKN1A, CDKN2A, TP53
13charcot-marie-tooth disease30.4CDH1, CDKN2A, DAPK1, MKI67, RASSF1, TP53
14cholecystolithiasis30.4HRAS, KRAS, RB1, TP53
15gastrointestinal stromal tumor30.4CD44, CDH1, CDKN2A, ERBB2, MKI67, TP53
16colorectal cancer30.4CD44, CDH1, CDKN1A, CDKN2A, ERBB2, FGFR3
17esophageal cancer30.2CDH1, CDKN1A, CDKN2A, ERBB2, GSTP1, KRAS
18lung cancer30.1CD44, CDH1, CDKN1A, CDKN2A, DAPK1, ERBB2
19bladder carcinoma in situ12.3
20gall bladder carcinoma in situ12.2
21urinary bladder urothelial carcinoma11.6
22bladder cancer, childhood11.5
23congenital intrauterine infection-like syndrome11.5
24small cell carcinoma of the bladder11.4
25chondrodysplasia, blomstrand type11.3
26urinary bladder cancer11.3
27transitional cell carcinoma11.3
28bladder squamous cell carcinoma11.3
29jewett-marshall bladder cancer11.3
30superficial urinary bladder cancer11.3
31tetrasomy 12p10.8HRAS, KRAS
32epidermal nevus, somatic10.8FGFR3, HRAS, KRAS
33transient hypogammaglobulinemia of infancy10.8FGFR3, TP53, UPK3A
34intracystic papillary adenoma10.8HRAS, KRAS, TP53
35gastric cancer risk after h. pylori infection10.7CDH1, GNL3, KRAS
36eccrine papillary adenocarcinoma10.7ERBB2, HRAS, KRAS
37migraine with aura10.7HRAS, KRAS, KRT20
38sweat gland cancer10.7CDKN2A, HRAS, KRAS
39schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.7FGFR3, GNL3, HRAS, KRAS
40malignant giant cell tumor of soft parts10.7HRAS, KRAS, KRT20
41sigmoid disease10.7HRAS, KRAS
42neuromuscular disease10.7ERBB2, HRAS, KRAS
43serous surface papilloma10.7HRAS, KRAS, KRT20
44spindle cell carcinoma10.7CDH1, TP53
45thymic dysplasia10.7CDH1, MKI67
46benign mesenchymoma10.7CDKN2A, KRAS, TP53
47spinal cord astrocytoma10.7CDKN2A, TP53
48intracranial sinus thrombosis10.7CDH1, KRAS, TP53
49superficial basal cell carcinoma10.7CDH1, KRT20, TP53
50cervix erosion10.7KRT20, UPK3A

Graphical network of the top 20 diseases related to Bladder Cancer, Somatic:



Diseases related to bladder cancer, somatic

Symptoms for Bladder Cancer, Somatic

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Symptoms by clinical synopsis from OMIM:

109800

Clinical features from OMIM:

109800

HPO human phenotypes related to Bladder Cancer, Somatic:

id Description Frequency HPO Source Accession
1 transitional cell carcinoma of the bladder HP:0006740

Drugs & Therapeutics for Bladder Cancer, Somatic

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Valstar15 VALRUBICIN Anthra Pharmaceuticals October 1998
FDA Label: Valstar
Disease/s that Drug Treats:Bladder Cancer
Indications and Usage:15 VALSTAR is indicated for intravesical therapy of BCG-refractory carcinoma in situ (CIS) of theurinary bladder in patients for whom immediate cystectomy would be associated withunacceptable morbidity or mortality.
DrugBank Targets:13 1. DNA;2. DNA topoisomerase 2-alpha
Mechanism of Action:15 
Target: DNA topoisomerase II
Action: interferes with normal breaking-resealing action
FDA: Valrubicin is an anthracycline that affects a variety of inter-relatedbiological functions, most of which involve nucleic acid metabolism. It readily penetrates intocells, where it inhibits the incorporation of nucleosides into nucleic acids, causes extensivechromosomal damage, and arrests cell cycle in G2. Although valrubicin does not bind strongly toDNA, a principal mechanism of its action, mediated by valrubicin metabolites, is interferencewith the normal DNA breaking-resealing action of DNA topoisomerase II.

Drugs for Bladder Cancer, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 21386
2
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3pancreatin880

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Open-label, Phase 2 Study of Neratinib in Patients With Solid Tumors With Somatic Human Epidermal Growth Factor Receptor (EGFR, HER2, HER3) Mutations or EGFR Gene AmplificationRecruitingNCT01953926Phase 2
2Personalized Cancer TherapyRecruitingNCT01772771

Search NIH Clinical Center for Bladder Cancer, Somatic

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Bladder Cancer, Somatic cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Bladder Cancer, Somatic:
Neo-Urinary Conduit
Embryonic/Adult Cultured Cells Related to Bladder Cancer, Somatic:
Neo-Urinary Conduit, PMID: 22136657

Genetic Tests for Bladder Cancer, Somatic

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Genetic tests related to Bladder Cancer, Somatic:

id Genetic test Affiliating Genes
1 Bladder Cancer, Somatic22 FGFR3, HRAS, KRAS, RB1

Anatomical Context for Bladder Cancer, Somatic

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Animal Models for Bladder Cancer, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Bladder Cancer, Somatic:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.4CD44, CDKN1A, CDKN2A, KRAS, RB1, TP53
2MP:000537110.4CD44, CDKN1A, ERBB2, FGFR3, KRAS, RB1
3MP:000538210.3CDKN1A, ERBB2, FGFR3, HRAS, KRAS, RB1
4MP:000301210.3CDH1, CDKN1A, CDKN2A, EZH2, FGFR3, HRAS
5MP:000538010.2CDH1, CDKN1A, CDKN2A, ERBB2, EZH2, GNL3
6MP:000538910.2CD44, CDH1, CDKN1A, CDKN2A, ERBB2, FGFR3
7MP:000538110.2CD44, CDH1, CDKN1A, CDKN2A, ERBB2, FGFR3
8MP:000537910.1CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2
9MP:000538810.1CD44, CDKN1A, CDKN2A, ERBB2, FGFR3, GNL3
10MP:000287310.1CD44, CDH1, ERBB2, EZH2, FGFR3, HRAS
11MP:000536910.1CD44, CDKN1A, CDKN2A, ERBB2, EZH2, KRAS
12MP:000536710.1CD44, CDKN1A, DAPK1, FGFR3, HRAS, KRAS
13MP:00053869.9CD44, CDKN1A, CDKN2A, DAPK1, ERBB2, EZH2
14MP:00107719.9CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2
15MP:00020069.9CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2
16MP:00036319.9CD44, CDKN1A, CDKN2A, DAPK1, ERBB2, EZH2
17MP:00053859.8CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2
18MP:00053909.7CD44, CDKN1A, CDKN2A, ERBB2, FGFR3, HRAS
19MP:00053849.7CD44, CDH1, CDKN1A, CDKN2A, DAPK1, ERBB2
20MP:00053769.6CD44, CDH1, CDKN1A, CDKN2A, DAPK1, ERBB2
21MP:00107689.6CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2
22MP:00053789.5CD44, CDH1, CDKN1A, CDKN2A, ERBB2, EZH2

Publications for Bladder Cancer, Somatic

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Variations for Bladder Cancer, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Bladder Cancer, Somatic:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Lys650GluVAR_004160
5FGFR3p.Lys650GlnVAR_018390

Clinvar genetic disease variations for Bladder Cancer, Somatic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs121913530GRCh37Chr 12, 25398285: 25398285
2NM_005343.3(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3RB1RB1, IVS20, A-G, -2single nucleotide variantPathogenic
4FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
5FGFR3NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
6TSC1NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter)single nucleotide variantPathogenicrs118203542GRCh37Chr 9, 135781440: 135781440
7TSC1NM_000368.4(TSC1): c.2074C> T (p.Arg692Ter)single nucleotide variantPathogenicrs118203631GRCh37Chr 9, 135779172: 135779172

Cosmic variations for Bladder Cancer, Somatic:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM45297TP53urinary tract,bladder,carcinoma,adenocarcinoma1
2COSM43778TP53urinary tract,bladder,carcinoma,adenocarcinoma1
3COSM11073TP53urinary tract,bladder,carcinoma,adenocarcinoma1
4COSM6932TP53urinary tract,bladder,carcinoma,adenocarcinoma1
5COSM532KRASurinary tract,bladder,carcinoma,adenocarcinoma1
6COSM532KRASurinary tract,bladder,carcinoma,adenocarcinoma1
7COSM520KRASurinary tract,bladder,carcinoma,adenocarcinoma1
8COSM763PIK3CAurinary tract,bladder,carcinoma,adenocarcinoma1

Expression for genes affiliated with Bladder Cancer, Somatic

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Search GEO for disease gene expression data for Bladder Cancer, Somatic.

Pathways for genes affiliated with Bladder Cancer, Somatic

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Pathways related to Bladder Cancer, Somatic according to GeneCards Suite gene sharing:

(show all 47)
idSuper pathwaysScoreTop Affiliating Genes
110.4HRAS, KRAS
2
Show member pathways
10.3CDKN1A, TP53
310.3FGFR3, HRAS, KRAS
410.3HRAS, KRAS, RB1
510.3CDKN2A, RB1, TP53
610.3ERBB2, HRAS, KRAS
710.3CDH1, ERBB2, HRAS
810.2CDH1, ERBB2, TP53
910.2CDKN1A, ERBB2, HRAS
10
Show member pathways
10.2CDKN1A, CDKN2A, TP53
11
Show member pathways
10.2HRAS, RB1, TP53, TSC1
12
Show member pathways
10.2HRAS, KRAS, TP53, TSC1
1310.2CDH1, HRAS, KRAS, TP53
1410.2CDKN1A, HRAS, KRAS, TP53
15
Show member pathways
10.2CDH1, ERBB2, HRAS, KRAS
16
Show member pathways
10.2CDKN1A, HRAS, TP53, TSC1
1710.2CDH1, CDKN1A, KRAS, TP53
18
Show member pathways
10.2CDKN1A, CDKN2A, RB1, TP53
19
Show member pathways
10.2CDKN1A, CDKN2A, RB1, TP53
2010.2CDKN1A, CDKN2A, RB1, TP53
2110.2CD44, CDKN1A, RB1, TP53
2210.2CD44, CDKN1A, RB1, TP53
2310.2CD44, EZH2, FGFR3, GNL3
2410.1CDH1, KRAS, RB1, TP53, TSC1
25
Show member pathways
10.1ERBB2, FGFR3, HRAS, KRAS, TP53
2610.1ERBB2, FGFR3, HRAS, KRAS, TP53
27
Show member pathways
10.1ERBB2, FGFR3, KRAS, TP53, TSC1
28
Show member pathways
10.1CDH1, FGFR3, HRAS, KRAS, RASSF1
29
Show member pathways
10.1CDH1, FGFR3, HRAS, KRAS, RASSF1
30
Show member pathways
10.1CDKN1A, ERBB2, HRAS, KRAS, TP53
3110.1CDH1, CDKN1A, CDKN2A, RB1, TP53
3210.1CDKN1A, ERBB2, EZH2, KRAS, TP53
3310.1CDKN1A, FGFR3, HRAS, KRAS, TP53, TSC1
3410.1CDKN1A, CDKN2A, HRAS, KRAS, RB1, TP53
3510.1CDKN1A, CDKN2A, HRAS, KRAS, RB1, TP53
36
Show member pathways
10.1CDKN1A, CDKN2A, HRAS, KRAS, RB1, TP53
37
Show member pathways
10.0CDH1, CDKN1A, ERBB2, HRAS, KRAS, TP53
3810.0CD44, CDKN1A, CDKN2A, HRAS, RB1, TP53
3910.0CD44, CDKN1A, ERBB2, HRAS, KRAS, TP53
40
Show member pathways
10.0CDKN1A, ERBB2, FGFR3, KRAS, RB1, TP53
4110.0CDKN1A, CDKN2A, HRAS, KRAS, RB1, TP53
42
Show member pathways
10.0CDKN1A, CDKN2A, ERBB2, HRAS, KRAS, RB1
43
Show member pathways
9.9CDKN1A, CDKN2A, EZH2, GSTP1, RB1, TP53
449.7CD44, CDKN1A, CDKN2A, ERBB2, EZH2, FGFR3
45
Show member pathways
9.6CDH1, CDKN1A, CDKN2A, ERBB2, GSTP1, HRAS
469.6CDH1, CDKN1A, CDKN2A, DAPK1, ERBB2, FGFR3
479.6CDH1, CDKN1A, CDKN2A, DAPK1, ERBB2, FGFR3

GO Terms for genes affiliated with Bladder Cancer, Somatic

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Biological processes related to Bladder Cancer, Somatic according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1striated muscle cell differentiationGO:005114610.9KRAS, RB1
2cell cycle arrestGO:000705010.8CDKN2A, RB1, TP53
3ERBB2 signaling pathwayGO:003812810.7ERBB2, HRAS, KRAS
4epidermal growth factor receptor signaling pathwayGO:000717310.6CDKN1A, FGFR3, HRAS, KRAS
5negative regulation of cell growthGO:003030810.5CDKN1A, CDKN2A, TP53
6fibroblast growth factor receptor signaling pathwayGO:000854310.5CDKN1A, ERBB2, FGFR3, HRAS, KRAS
7Ras protein signal transductionGO:000726510.5CDKN1A, CDKN2A, FGFR3, RB1
8negative regulation of gene expressionGO:001062910.4CDKN1A, EZH2, HRAS
9replicative senescenceGO:009039910.4CDKN1A, CDKN2A, TP53
10regulation of long-term neuronal synaptic plasticityGO:004816910.4HRAS, KRAS
11apoptotic processGO:000691510.3CDH1, CDKN2A, DAPK1, HRAS, TP53
12insulin receptor signaling pathwayGO:000828610.3ERBB2, FGFR3, HRAS, KRAS, TSC1
13leukocyte migrationGO:005090010.2CD44, HRAS, KRAS
14negative regulation of G1/S transition of mitotic cell cycleGO:200013410.1CDKN1A, EZH2, RB1
15negative regulation of apoptotic processGO:004306610.1CD44, CDKN1A, DAPK1, GSTP1, TP53
16regulation of cell cycleGO:005172610.0CDKN1A, RB1, TSC1

Molecular functions related to Bladder Cancer, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.3ERBB2, FGFR3

Sources for Bladder Cancer, Somatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet