ELST
MCID: END051
MIFTS: 39

Endolymphatic Sac Tumor (ELST) malady

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Summaries for Endolymphatic Sac Tumor

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 hemangioblastoma. 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 G protein signaling K RAS regulation pathway. The compounds erex and nesp have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Aliases & Classifications for Endolymphatic Sac Tumor

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43NIH Rare Diseases, 62UMLS
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Classifications:

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Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

endolymphatic sac tumor 43 62
elst 43


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 55)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.5VHL, HIF1A
2hemangioblastoma30.3VHL, HIF1A, EPOR, EPO
3adenocarcinoma30.2SETD2, EPOR, VHL, CA9, HIF1A
4pharyngitis10.3
5papillary adenoma10.3
6choroiditis10.3
7adenoma10.3
8cerebellopontine angle tumor10.3
9papillary adenocarcinoma10.3
10hypoxia10.3
11acoustic neuroma10.1VHL, EPOR
12oxyphilic adenoma10.1CA9, VHL
13paraganglioma10.0HIF1A, VHL
14retinal ischemia10.0SETD2, HIF1A
15acquired polycythemia10.0EPO, EPOR
16kidney cancer10.0VHL, CA9
17polycystic kidney disease10.0EPO, VHL
18refractory anemia10.0EPO, EPOR
19mental retardation10.0SLC1A3, AVPR2, VHL
20kidney rhabdoid cancer10.0CA9, HIF1A, VHL
21polycythemia vera10.0EPO, EPOR
22thrombocytosis10.0EPOR, EPO
23sickle cell disease10.0EPO, EPOR
24primary pulmonary hypertension10.0HIF1A, SETD2
25iron metabolism disease10.0SETD2, EPO
26glioblastoma multiforme10.0SETD2, HIF1A, VHL
27primary polycythemia10.0EPO, VHL, EPOR
28fibrosarcoma10.0HIF1A, SETD2, CA9
29congestive heart failure10.0EPO, EPOR
30cerebrovascular disease10.0SLC1A3, SETD2, EPOR
31colorectal cancer10.0HIF1A, SETD2, CA9
32congenital heart disease10.0AVPR2, HIF1A, EPO
33ovarian cancer10.0VHL, SETD2, HIF1A
34colon cancer10.0EPOR, HIF1A, SETD2
35factor v leiden thrombophilia10.0VHL, EPO, SETD2
36osteosarcoma10.0SETD2, SLC1A3, HIF1A
37pheochromocytoma10.0HIF1A, SETD2, VHL, EPOR
38myeloproliferative disorder9.9EPO, EPOR
39squamous cell carcinoma of the head and neck9.9EPOR, HIF1A, CA9, SETD2
40cervical cancer9.9HIF1A, CA9, EPOR, SETD2
41lung cancer9.9VHL, HIF1A, SETD2, CA9
42ischemia9.9SETD2, HIF1A, EPOR, SLC1A3
43polycythemia9.9EPO, EPOR, HIF1A, VHL
44pancreatic cancer9.9CA9, HIF1A, SETD2
45melanoma9.9SETD2, HIF1A, CA9, EPOR
46prostate cancer9.9EPOR, HIF1A, CA9, SETD2
47renal clear cell carcinoma9.9EPOR, VHL, SETD2, CA9, HIF1A
48non-small cell lung carcinoma9.9EPOR, VHL, CA9, SETD2, HIF1A
49deficiency anemia9.9HIF1A, EPOR, SETD2, EPO
50stomach cancer9.9HIF1A, SETD2, EPOR, VHL, CA9

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



Diseases related to endolymphatic sac tumor

Symptoms for Endolymphatic Sac Tumor

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Drugs & Therapeutics for Endolymphatic Sac Tumor

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Endolymphatic Sac Tumor

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Anatomical Context for Endolymphatic Sac Tumor

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33MalaCards
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MalaCards organs/tissues related to Endolymphatic Sac Tumor:

33
Bone

Animal Models for Endolymphatic Sac Tumor or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.9HIF1A, EPOR, EPO, VHL
2MP:00053977.9VHL, EPO, EPOR, HIF1A, AVPR2
3MP:00053807.7HIF1A, SETD2, EPOR, EPO, VHL
4MP:00053857.6VHL, EPO, EPOR, SETD2, HIF1A
5MP:00053767.0SLC1A3, AVPR2, HIF1A, SETD2, EPOR, EPO
6MP:00107686.9AVPR2, HIF1A, SETD2, EPOR, EPO, VHL

Publications for Endolymphatic Sac Tumor

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52PubMed
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Articles related to Endolymphatic Sac Tumor:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. (23070752)
2013
2
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. (24060358)
2013
3
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. (24003980)
2013
4
Imaging detection of endolymphatic sac tumor-associated hydrops. (23472846)
2013
5
Endolymphatic sac tumor and otalgia. (23543975)
2013
6
Surgical treatment of endolymphatic sac tumor. (22201305)
2012
7
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. (22706862)
2012
8
Papillary endolymphatic sac tumor: a case report. (22953101)
2012
9
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. (22777797)
2012
10
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. (21103895)
2011
11
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. (21891944)
2011
12
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. (23984214)
2011
13
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. (21574774)
2011
14
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): sine qua non radiology-pathology and the University of Texas MD Anderson Cancer Center experience. (21167761)
2011
15
Endolymphatic sac tumor presenting with MAcniA"re's disease. (20493370)
2010
16
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. (20351605)
2010
17
Endolymphatic sac tumor of cerebellopontine angle. (19670571)
2009
18
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. (20069227)
2009
19
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. (18273509)
2008
20
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. (18423895)
2008
21
Surgery for endolymphatic sac tumor: whether and when to keep hearing? (19086306)
2008
22
Endolymphatic sac tumor: a report of 3 cases and discussion of management. (17315832)
2007
23
Cochlear implantation in a bilateral endolymphatic sac tumor patient. A case report. (17825433)
2007
24
Endolymphatic sac tumor of temporal bone. (16883752)
2006
25
Endolymphatic sac tumor located around semicircular canals. (16466878)
2006
26
Endolymphatic sac tumor in a patient with von Hippel-Lindau disease: MR imaging findings. (16538578)
2006
27
Endolymphatic sac tumor metastatic to the spine. Case report. (16122027)
2005
28
Coexpression of erythropoietin and its receptor in endolymphatic sac tumors. (16175858)
2005
29
Differential grading of endolymphatic sac tumor extension by virtue of von Hippel-Lindau disease status. (15354010)
2004
30
Endolymphatic sac tumor in a 4-year-old boy. (15354011)
2004
31
Surgical treatment of endolymphatic sac tumor with adjunctive stereotactic radiation therapy--case report. (15686180)
2004
32
Endolymphatic sac tumor in von Hippel-Lindau disease. (14501465)
2003
33
Pathologic quiz case: a woman with right facial nerve paralysis. Endolymphatic sac tumor associated with von Hippel-Lindau disease. (14521446)
2003
34
Endolymphatic sac tumor: staged endovascular-neurosurgical approach. (12739230)
2003
35
Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone. (14710902)
2003
36
Endolymphatic sac tumor: unique features of two cases and review of the literature. (12382133)
2002
37
Endolymphatic sac tumor: a rare cerebellopontine angle tumor. (12577100)
2002
38
Cytology of endolymphatic sac tumor. (11557790)
2001
39
Endolymphatic sac tumor: a case report. (11489369)
2001
40
Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient: an immunohistochemical study. (11455007)
2001
41
Mutation of von Hippel-Lindau tumor suppressor gene in a sporadic endolymphatic sac tumor. (11727270)
2001
42
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. (10932304)
2000
43
Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease. (10809480)
2000
44
Endolymphatic sac tumor and von Hippel-Lindau disease: imaging features. (10954517)
2000
45
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. (10408561)
1999
46
Image interpretation session: 1998. Papillary endolymphatic sac tumor. (10722365)
1999
47
A case of endolymphatic sac tumor with long-term survival. (10746963)
1999
48
Aggressive papillary adenoma of the cerebellopontine angle: case report of an endolymphatic sac tumor. (9074741)
1997
49
von Hippel-Lindau disease gene alterations associated with endolymphatic sac tumor. (9214679)
1997
50
Endolymphatic sac tumor: a case report and review of the literature. (9315135)
1997

Variations for Endolymphatic Sac Tumor

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Expression for genes affiliated with Endolymphatic Sac Tumor

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Endolymphatic Sac Tumor

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Pathways for genes affiliated with Endolymphatic Sac Tumor

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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 5Cell Signaling Technology, 53QIAGEN, 55Reactome
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Compounds for genes affiliated with Endolymphatic Sac Tumor

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB
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Compounds related to Endolymphatic Sac Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1erex459.9EPOR, EPO
2nesp459.8EPOR, EPO
3pp 100459.8EPO, EPOR
4lenalidomide45 1110.7EPOR, EPO
5acetazolamide45 1110.6CA9, EPO
6echinomycin459.5HIF1A, SETD2
73-(5-hydroxymethyl-2-furyl)-1-benzylindazole459.5SETD2, HIF1A
8desmopressin45 61 29 1112.5EPO, AVPR2
9deferoxamine mesylate459.5SETD2, HIF1A
10sunitinib45 51 1111.4HIF1A, VHL
11chloride459.4SLC1A3, CA9, AVPR2
12apigenin45 2910.3SETD2, HIF1A
13histidine459.3VHL, SLC1A3, AVPR2
14inositol459.3EPO, EPOR, SLC1A3
155-aza-2deoxycytidine459.2VHL, EPO, CA9
16alpha-ketoglutarate459.1HIF1A, VHL, SETD2
17succinate459.1VHL, SETD2, HIF1A
18geldanamycin45 51 61 1112.1HIF1A, VHL, SETD2
19fumarate45 1110.1EPO, VHL, HIF1A
20bortezomib45 51 1111.0SETD2, CA9, HIF1A
21streptavidin458.9HIF1A, EPOR
22topotecan45 119.9SETD2, HIF1A, EPO
23mitomycin c458.8EPO, HIF1A, CA9
24asparagine458.8AVPR2, SETD2, HIF1A, EPOR
25actinomycin d458.7SETD2, EPOR, VHL, HIF1A
26wortmannin458.6HIF1A, SETD2, SLC1A3, EPOR
27phosphoinositide458.6HIF1A, SLC1A3, EPOR, SETD2
28cocl2458.6SETD2, EPO, HIF1A, VHL
29cobalt chloride458.6SETD2, HIF1A, EPO, VHL
30deferoxamine45 119.6VHL, SETD2, HIF1A, EPO
31cobalt45 249.6SETD2, HIF1A, EPO, VHL
32ascorbic acid45 249.6HIF1A, SETD2, EPO
33alanine458.6SLC1A3, EPOR, HIF1A, AVPR2
34butyrate458.4HIF1A, SETD2, EPO
35cisplatin45 51 61 1111.4EPOR, SETD2, HIF1A, EPO
36oligonucleotide458.3EPOR, SETD2, VHL, SLC1A3, HIF1A
37lactate458.3HIF1A, SETD2, EPO, CA9
38nitric oxide45 24 1110.3HIF1A, VHL, SETD2, SLC1A3, EPOR
39proline458.2SETD2, VHL, CA9, EPOR, HIF1A
40estrogen458.2HIF1A, EPOR, VHL, CA9, SETD2
41ly294002458.2EPOR, EPO, VHL, SETD2, HIF1A
42iron45 249.1SETD2, EPOR, EPO, VHL, HIF1A
43serine458.1HIF1A, SLC1A3, VHL, EPOR, SETD2
44rapamycin458.1CA9, VHL, HIF1A, SETD2, EPO
45pimonidazole458.0SETD2, EPO, HIF1A, CA9, EPOR
46phosphatidylinositol457.8VHL, SETD2, EPO, HIF1A, AVPR2, EPOR
47glucose457.8EPOR, SLC1A3, CA9, SETD2, HIF1A, VHL
48vegf457.6HIF1A, VHL, CA9, EPO, EPOR, SETD2
49oxygen45 248.6VHL, CA9, EPO, EPOR, HIF1A, SETD2
50tyrosine457.3AVPR2, SETD2, EPOR, EPO, HIF1A, VHL

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
1response to testosteroneGO:0335749.0CA9, EPO
2hemoglobin biosynthetic processGO:0425418.9EPO, HIF1A
3positive regulation of transcription, DNA-templatedGO:0458938.7VHL, EPO, HIF1A
4regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614188.2CA9, VHL, EPO, HIF1A
5cellular response to hypoxiaGO:0714568.1HIF1A, EPO, VHL, CA9

Products for genes affiliated with Endolymphatic Sac Tumor

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Sources for Endolymphatic Sac Tumor

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet