ELST
MCID: END051
MIFTS: 23

Endolymphatic Sac Tumor (ELST) malady

Cancer category

Summaries for Endolymphatic Sac Tumor

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 An endolymphatic sac tumor is a very uncommon papillary epithelial neoplasm arising within the... more...

MalaCards: Endolymphatic Sac Tumor, also known as ELST, is related to adenoma and von hippel-lindau disease. An important gene associated with Endolymphatic Sac Tumor is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways are HIF-2-alpha transcription factor network and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. The compounds asparagine and echinomycin have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and embryogenesis.

Aliases & Classifications for Endolymphatic Sac Tumor

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer


Aliases & Descriptions:

endolymphatic sac tumor 43 61
elst 43


Related Diseases for Endolymphatic Sac Tumor

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Endolymphatic Sac Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.3SETD2, VHL
2von hippel-lindau disease30.3HIF1A, VHL
3adenocarcinoma30.3VHL, CA9, HIF1A, EPOR, SETD2
4cochlear disease10.4
5endolymphatic hydrops10.4
6papillary adenoma10.2
7hypoxia10.2
8wilms tumor10.0VHL
9hemangioma10.0VHL
10cystadenoma10.0VHL
11primary hyperoxaluria10.0EPOR
12multiple endocrine neoplasia10.0VHL
13amyotrophic lateral sclerosis10.0SLC1A3
14sarcoma10.0CA9
15schizophrenia10.0SLC1A3
16proliferative diabetic retinopathy10.0HIF1A
17acoustic neuroma10.0EPOR, VHL
18diabetic retinopathy10.0HIF1A
19oral cancer10.0HIF1A
20kidney cancer10.0CA9, VHL
21acquired polycythemia10.0EPOR, EPO
22myeloma10.0EPOR, EPO
23sickle cell disease10.0EPO, EPOR
24refractory anemia10.0EPO, EPOR
25polycystic kidney disease10.0EPO, VHL
26paraganglioma10.0VHL, HIF1A
27primary polycythemia10.0EPOR, EPO, VHL
28iron metabolism disease10.0SETD2, EPO
29oxyphilic adenoma10.0CA9, VHL
30endometrial carcinoma10.0HIF1A, CA9
31malignant glioma10.0SETD2, HIF1A
32myocardial infarction10.0HIF1A
33hypoglycemia10.0HIF1A, SETD2
34retinal ischemia10.0HIF1A, SETD2
35colon cancer10.0HIF1A, SETD2
36factor v leiden thrombophilia10.0SETD2, EPO, VHL
37kidney rhabdoid cancer10.0VHL, CA9, HIF1A
38glioblastoma multiforme10.0SETD2, HIF1A, VHL
39retinal disease10.0VHL, HIF1A, SETD2
40fibrosarcoma10.0CA9, HIF1A, SETD2
41ovarian cancer10.0CA9, HIF1A, SETD2
42cadasil10.0SETD2, SLC1A3, EPOR
43congenital heart defect10.0HIF1A, EPO, AVPR2
44hemangioblastoma10.0EPOR, EPO, HIF1A, VHL
45polycythemia10.0VHL, HIF1A, EPO, EPOR
46pheochromocytoma10.0VHL, HIF1A, EPOR, SETD2
47pancreatic cancer10.0SETD2, HIF1A, CA9
48ischemia10.0SETD2, SLC1A3, EPOR, HIF1A
49squamous cell carcinoma of the head and neck10.0SETD2, EPOR, HIF1A, CA9
50colorectal cancer10.0CA9, HIF1A, SETD2

Graphical network of the top 20 diseases related to Endolymphatic Sac Tumor:



Diseases related to endolymphatic sac tumor

Clinical Features for Endolymphatic Sac Tumor

Drugs & Therapeutics for Endolymphatic Sac Tumor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Endolymphatic Sac Tumor

Anatomical Context for Endolymphatic Sac Tumor

Animal Models for Endolymphatic Sac Tumor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1SETD2, SLC1A3, AVPR2
2MP:00053807.7SETD2, EPOR, EPO, HIF1A, VHL
3MP:00107686.6VHL, CA9, HIF1A, EPO, EPOR, AVPR2

Publications for Endolymphatic Sac Tumor

Genetic Variations for Endolymphatic Sac Tumor

Expression for genes affiliated with Endolymphatic Sac Tumor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Endolymphatic Sac Tumor

Search GEO for disease gene expression data for Endolymphatic Sac Tumor.

Pathways for genes affiliated with Endolymphatic Sac Tumor

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 30KEGG, 52QIAGEN, 54Reactome
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Compounds for genes affiliated with Endolymphatic Sac Tumor

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
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Compounds related to Endolymphatic Sac Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1asparagine4510.2AVPR2, EPOR
2echinomycin459.7SETD2, HIF1A
33-(5-hydroxymethyl-2-furyl)-1-benzylindazole459.7SETD2, HIF1A
4deferoxamine mesylate459.7HIF1A, SETD2
5sunitinib45 50 1111.7VHL, HIF1A
6erex459.7EPOR, EPO
7nesp459.6EPOR, EPO
8pp 100459.6EPO, EPOR
9streptavidin459.6EPOR, HIF1A
10apigenin45 2910.6HIF1A, SETD2
11lenalidomide45 1110.5EPO, EPOR
12acetazolamide45 1110.4CA9, EPO
13chloride459.4SLC1A3, AVPR2, CA9
14alpha-ketoglutarate459.3SETD2, HIF1A, VHL
15bapta459.3SETD2, HIF1A
16succinate459.3SETD2, HIF1A, VHL
17histidine459.3SLC1A3, AVPR2, VHL
18geldanamycin45 50 60 1112.3VHL, HIF1A, SETD2
19desmopressin45 60 29 1112.2EPO, AVPR2
20bortezomib45 1110.2SETD2, HIF1A, CA9
21fumarate45 1110.1EPO, HIF1A, VHL
22inositol459.1SLC1A3, EPOR, EPO
23nickel45 2410.0HIF1A, SETD2
245-aza-2deoxycytidine459.0EPO, CA9, VHL
25topotecan45 119.9HIF1A, EPO, SETD2
26actinomycin d458.9SETD2, EPOR, HIF1A, VHL
27mitomycin c458.8EPO, HIF1A, CA9
28wortmannin458.8HIF1A, EPOR, SLC1A3, SETD2
29phosphoinositide458.8HIF1A, EPOR, SLC1A3, SETD2
30glucose458.8CA9, HIF1A, SLC1A3, SETD2
31cocl2458.6VHL, HIF1A, EPO, SETD2
32cobalt chloride458.6VHL, HIF1A, EPO, SETD2
33deferoxamine45 119.6SETD2, EPO, HIF1A, VHL
34cobalt45 249.6VHL, HIF1A, EPO, SETD2
35ascorbic acid45 249.6HIF1A, EPO, SETD2
36oligonucleotide458.5VHL, HIF1A, EPOR, SLC1A3, SETD2
37nitric oxide45 11 2410.5VHL, HIF1A, EPOR, SLC1A3, SETD2
38proline458.4VHL, CA9, HIF1A, EPOR, SETD2
39cisplatin45 50 60 1111.4SETD2, EPOR, EPO, HIF1A
40estrogen458.3VHL, CA9, HIF1A, EPOR, SETD2
41lactate458.3CA9, HIF1A, EPO, SETD2
42serine458.2SETD2, SLC1A3, EPOR, HIF1A, VHL
43ly294002458.2VHL, HIF1A, EPO, EPOR, SETD2
44iron45 249.1VHL, HIF1A, EPO, EPOR, SETD2
45rapamycin458.1VHL, CA9, HIF1A, EPO, SETD2
46pimonidazole458.0SETD2, EPOR, EPO, HIF1A, CA9
47phosphatidylinositol457.8VHL, HIF1A, EPO, EPOR, AVPR2, SETD2
48vegf457.6VHL, CA9, HIF1A, EPO, EPOR, SETD2
49oxygen45 248.6VHL, CA9, HIF1A, EPO, EPOR, SETD2
50tyrosine457.3VHL, CA9, HIF1A, EPO, EPOR, AVPR2

GO Terms for genes affiliated with Endolymphatic Sac Tumor

Sources:
16Gene Ontology
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Biological processes related to Endolymphatic Sac Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:0425419.0EPO, HIF1A
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614188.0EPO, HIF1A, CA9, VHL
3cellular response to hypoxiaGO:0714567.8VHL, CA9, HIF1A, EPO

Products for genes affiliated with Endolymphatic Sac Tumor

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  • Proteins
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Sources for Endolymphatic Sac Tumor

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet