ELST
MCID: END051
MIFTS: 27

Endolymphatic Sac Tumor (ELST) malady

Cancer diseases category

Summaries for Endolymphatic Sac Tumor

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 von hippel-lindau disease and adenoma. 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

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42NIH Rare Diseases, 60UMLS
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Classifications:

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Global: Cancer diseases


Aliases & Descriptions:

endolymphatic sac tumor 42 60
elst 42


Related Diseases for Endolymphatic Sac Tumor

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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 67)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.3HIF1A, VHL
2adenoma30.3SETD2, VHL
3hemangioblastoma30.3EPOR, EPO, HIF1A, VHL
4adenocarcinoma30.2VHL, CA9, HIF1A, EPOR, SETD2
5cerebellopontine angle tumor10.5
6cochlear disease10.4
7choroiditis10.2
8pharyngitis10.2
9papillary adenoma10.2
10central nervous system disease10.2
11facial nerve disease10.2
12facial paralysis10.2
13nervous system disease10.2
14papillary adenocarcinoma10.2
15wilms tumor10.0VHL
16hemangioma10.0VHL
17cystadenoma10.0VHL
18primary hyperoxaluria10.0EPOR
19multiple endocrine neoplasia10.0VHL
20amyotrophic lateral sclerosis10.0SLC1A3
21sarcoma10.0CA9
22schizophrenia10.0SLC1A3
23proliferative diabetic retinopathy10.0HIF1A
24acoustic neuroma10.0EPOR, VHL
25diabetic retinopathy10.0HIF1A
26oral cancer10.0HIF1A
27kidney cancer10.0CA9, VHL
28acquired polycythemia10.0EPOR, EPO
29myeloma10.0EPOR, EPO
30sickle cell disease10.0EPO, EPOR
31refractory anemia10.0EPO, EPOR
32polycystic kidney disease10.0EPO, VHL
33paraganglioma10.0VHL, HIF1A
34primary polycythemia10.0EPOR, EPO, VHL
35iron metabolism disease10.0SETD2, EPO
36oxyphilic adenoma10.0CA9, VHL
37endometrial carcinoma10.0HIF1A, CA9
38malignant glioma10.0SETD2, HIF1A
39myocardial infarction10.0HIF1A
40hypoglycemia10.0HIF1A, SETD2
41retinal ischemia10.0HIF1A, SETD2
42colon cancer10.0HIF1A, SETD2
43factor v leiden thrombophilia10.0SETD2, EPO, VHL
44kidney rhabdoid cancer10.0VHL, CA9, HIF1A
45glioblastoma multiforme10.0SETD2, HIF1A, VHL
46retinal disease10.0VHL, HIF1A, SETD2
47fibrosarcoma10.0CA9, HIF1A, SETD2
48ovarian cancer10.0CA9, HIF1A, SETD2
49cadasil10.0SETD2, SLC1A3, EPOR
50congenital heart defect10.0HIF1A, EPO, AVPR2

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



Diseases related to endolymphatic sac tumor

Clinical Features for Endolymphatic Sac Tumor

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Drugs & Therapeutics for Endolymphatic Sac Tumor

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Endolymphatic Sac Tumor

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Anatomical Context for Endolymphatic Sac Tumor

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Animal Models for Endolymphatic Sac Tumor or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

36
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

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Genetic Variations for Endolymphatic Sac Tumor

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Expression for genes affiliated with Endolymphatic Sac Tumor

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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

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37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 29KEGG, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Endolymphatic Sac Tumor

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris 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
1asparagine4410.2AVPR2, EPOR
2echinomycin449.7HIF1A, SETD2
33-(5-hydroxymethyl-2-furyl)-1-benzylindazole449.7SETD2, HIF1A
4deferoxamine mesylate449.7SETD2, HIF1A
5sunitinib44 49 1111.7VHL, HIF1A
6erex449.7EPO, EPOR
7nesp449.6EPOR, EPO
8pp 100449.6EPOR, EPO
9streptavidin449.6HIF1A, EPOR
10apigenin44 2810.6SETD2, HIF1A
11lenalidomide44 1110.5EPOR, EPO
12acetazolamide44 1110.4EPO, CA9
13chloride449.4SLC1A3, CA9, AVPR2
14alpha-ketoglutarate449.3VHL, HIF1A, SETD2
15bapta449.3SETD2, HIF1A
16succinate449.3HIF1A, VHL, SETD2
17histidine449.3VHL, AVPR2, SLC1A3
18geldanamycin44 49 59 1112.3SETD2, HIF1A, VHL
19nickel44 2410.2HIF1A, SETD2
20bortezomib44 1110.2HIF1A, SETD2, CA9
21fumarate44 1110.1HIF1A, VHL, EPO
22inositol449.1SLC1A3, EPO, EPOR
23desmopressin44 59 28 1112.0AVPR2, EPO
245-aza-2deoxycytidine449.0EPO, CA9, VHL
25topotecan44 119.9HIF1A, EPO, SETD2
26actinomycin d448.9SETD2, EPOR, HIF1A, VHL
27mitomycin c448.8HIF1A, EPO, CA9
28wortmannin448.8EPOR, SLC1A3, HIF1A, SETD2
29phosphoinositide448.8HIF1A, EPOR, SLC1A3, SETD2
30glucose448.8SLC1A3, HIF1A, CA9, SETD2
31cocl2448.6HIF1A, VHL, SETD2, EPO
32cobalt chloride448.6VHL, HIF1A, EPO, SETD2
33deferoxamine44 119.6VHL, EPO, HIF1A, SETD2
34cobalt44 249.6VHL, HIF1A, EPO, SETD2
35ascorbic acid44 249.6SETD2, EPO, HIF1A
36oligonucleotide448.5EPOR, SETD2, VHL, HIF1A, SLC1A3
37nitric oxide44 11 2410.5VHL, HIF1A, SLC1A3, SETD2, EPOR
38proline448.4HIF1A, EPOR, CA9, VHL, SETD2
39cisplatin44 49 59 1111.4SETD2, HIF1A, EPOR, EPO
40estrogen448.3CA9, VHL, HIF1A, EPOR, SETD2
41lactate448.3CA9, HIF1A, EPO, SETD2
42serine448.2EPOR, SETD2, VHL, HIF1A, SLC1A3
43ly294002448.2SETD2, EPOR, EPO, HIF1A, VHL
44iron44 249.1SETD2, EPOR, VHL, EPO, HIF1A
45rapamycin448.1SETD2, EPO, HIF1A, CA9, VHL
46pimonidazole448.0EPOR, EPO, HIF1A, CA9, SETD2
47phosphatidylinositol447.8VHL, HIF1A, EPO, AVPR2, SETD2, EPOR
48vegf447.6SETD2, EPOR, EPO, HIF1A, CA9, VHL
49oxygen44 248.6EPOR, EPO, HIF1A, CA9, VHL, SETD2
50tyrosine447.3SETD2, AVPR2, EPOR, EPO, CA9, HIF1A

GO Terms for genes affiliated with Endolymphatic Sac Tumor

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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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Sources for Endolymphatic Sac Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet