MCID: END051
MIFTS: 33

Endolymphatic Sac Tumor malady

Rare diseases, Cancer diseases categories

Summaries for Endolymphatic Sac Tumor

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Wikipedia:63 An endolymphatic sac tumor is a very uncommon papillary epithelial neoplasm arising within the... more...

MalaCards based summary: Endolymphatic Sac Tumor, also known as elst, is related to von hippel-lindau syndrome 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 Development EPO induced Jak STAT 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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Endolymphatic Sac Tumor, Aliases & Descriptions:

Name: Endolymphatic Sac Tumor 41 60
 
Elst 41


Classifications:

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


Related Diseases for Endolymphatic Sac Tumor

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Diseases related to Endolymphatic Sac Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome30.7HIF1A, VHL
2hemangioblastoma30.0VHL, EPO, EPOR, HIF1A
3adenocarcinoma29.8HIF1A, SETD2, EPOR, VHL, CA9
4acoustic neuroma10.3VHL, EPOR
5aneurysmal bone cysts10.3
6pharyngitis10.3
7papillary adenoma10.3
8choroiditis10.3
9adenoma10.3
10cerebellopontine angle tumor10.3
11papillary adenocarcinoma10.3
12aneurysm10.3
13hypoxia10.3
14oxyphilic adenoma10.2CA9, VHL
15paraganglioma10.2VHL, HIF1A
16retinal ischemia10.1HIF1A, SETD2
17acquired polycythemia10.1EPOR, EPO
18renal cell carcinoma10.1CA9, VHL
19polycystic kidney disease10.1VHL, EPO
20refractory anemia10.1EPO, EPOR
21mental retardation10.1SLC1A3, VHL, AVPR2
22kidney cancer10.1CA9, VHL, HIF1A
23polycythemia vera10.0EPO, EPOR
24thrombocytosis10.0EPO, EPOR
25squamous cell carcinoma, head and neck10.0CA9, EPOR, HIF1A
26sickle cell disease10.0EPO, EPOR
27pulmonary hypertension10.0HIF1A, SETD2
28iron metabolism disease10.0EPO, SETD2
29glioblastoma multiforme10.0HIF1A, SETD2, VHL
30primary polycythemia10.0VHL, EPO, EPOR
31fibrosarcoma9.9HIF1A, SETD2, CA9
32congestive heart failure9.9EPO, EPOR
33stroke, ischemic9.9SLC1A3, EPOR, SETD2
34congenital heart disease9.9AVPR2, HIF1A, EPO
35ovarian cancer, somatic9.9HIF1A, SETD2, VHL
36colorectal cancer9.8EPOR, SETD2, HIF1A
37factor v leiden thrombophilia9.8SETD2, EPO, VHL
38osteosarcoma, somatic9.8SLC1A3, SETD2, HIF1A
39pheochromocytoma9.8VHL, EPOR, SETD2, HIF1A
40bone marrow cancer9.8EPO, EPOR
41cervical cancer, somatic9.8CA9, EPOR, SETD2, HIF1A
42lung cancer9.8HIF1A, SETD2, VHL, CA9
43ischemia9.7SLC1A3, EPOR, SETD2, HIF1A
44polycythemia9.7VHL, EPO, EPOR, HIF1A
45pancreatic cancer9.7CA9, SETD2, HIF1A
46melanoma9.7HIF1A, SETD2, EPOR, CA9
47prostate cancer9.7HIF1A, SETD2, EPOR, CA9
48renal clear cell carcinoma9.6HIF1A, SETD2, EPOR, VHL, CA9
49deficiency anemia9.6HIF1A, SETD2, EPOR, EPO
50gastric cancer, somatic9.6CA9, VHL, EPOR, SETD2, HIF1A

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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Drug clinical trials:

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Search NIH Clinical Center for Endolymphatic Sac Tumor

Genetic Tests for Endolymphatic Sac Tumor

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Anatomical Context for Endolymphatic Sac Tumor

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MalaCards organs/tissues related to Endolymphatic Sac Tumor:

31
Bone

Animal Models for Endolymphatic Sac Tumor or affiliated genes

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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

35
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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Articles related to Endolymphatic Sac Tumor:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the international ELST registry. (25867206)
2015
2
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. (24881035)
2014
3
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. (24966979)
2014
4
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor. (24966975)
2014
5
Cerebrospinal fluid cytology of an endolymphatic sac tumor. (25354959)
2014
6
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. (23070752)
2013
7
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. (24060358)
2013
8
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. (24003980)
2013
9
Surgical treatment of endolymphatic sac tumor. (22201305)
2012
10
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. (22706862)
2012
11
Papillary endolymphatic sac tumor: a case report. (22953101)
2012
12
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. (22777797)
2012
13
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. (21103895)
2011
14
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. (21891944)
2011
15
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. (23984214)
2011
16
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. (21574774)
2011
17
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
18
Endolymphatic sac tumor presenting with MAcniA"re's disease. (20493370)
2010
19
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. (20351605)
2010
20
Endolymphatic sac tumor of cerebellopontine angle. (19670571)
2009
21
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. (20069227)
2009
22
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. (18273509)
2008
23
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. (18423895)
2008
24
Surgery for endolymphatic sac tumor: whether and when to keep hearing? (19086306)
2008
25
Endolymphatic sac tumor: a report of 3 cases and discussion of management. (17315832)
2007
26
Cochlear implantation in a bilateral endolymphatic sac tumor patient. A case report. (17825433)
2007
27
Endolymphatic sac tumor of temporal bone. (16883752)
2006
28
Endolymphatic sac tumor located around semicircular canals. (16466878)
2006
29
Endolymphatic sac tumor metastatic to the spine. Case report. (16122027)
2005
30
Coexpression of erythropoietin and its receptor in endolymphatic sac tumors. (16175858)
2005
31
Differential grading of endolymphatic sac tumor extension by virtue of von Hippel-Lindau disease status. (15354010)
2004
32
Endolymphatic sac tumors in von Hippel-Lindau disease. (15035284)
2004
33
Endolymphatic sac tumor in a 4-year-old boy. (15354011)
2004
34
Endolymphatic sac tumor in von Hippel-Lindau disease. (14501465)
2003
35
Pathologic quiz case: a woman with right facial nerve paralysis. Endolymphatic sac tumor associated with von Hippel-Lindau disease. (14521446)
2003
36
Endolymphatic sac tumor: staged endovascular-neurosurgical approach. (12739230)
2003
37
Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone. (14710902)
2003
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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Search GEO for disease gene expression data for Endolymphatic Sac Tumor.

Pathways for genes affiliated with Endolymphatic Sac Tumor

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Compounds for genes affiliated with Endolymphatic Sac Tumor

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Compounds related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1erex439.9EPO, EPOR
2nesp439.8EPOR, EPO
3pp 100439.8EPO, EPOR
4lenalidomide43 1210.7EPOR, EPO
5acetazolamide43 1210.6EPO, CA9
6echinomycin439.5HIF1A, SETD2
73-(5-hydroxymethyl-2-furyl)-1-benzylindazole439.5HIF1A, SETD2
8desmopressin43 59 28 1212.5EPO, AVPR2
9deferoxamine mesylate439.5SETD2, HIF1A
10sunitinib43 49 1211.4HIF1A, VHL
11chloride439.4SLC1A3, CA9, AVPR2
12apigenin43 2810.3SETD2, HIF1A
13histidine439.3SLC1A3, VHL, AVPR2
14inositol439.3SLC1A3, EPO, EPOR
155-aza-2deoxycytidine439.2CA9, VHL, EPO
16alpha-ketoglutarate439.1VHL, SETD2, HIF1A
17succinate439.1VHL, SETD2, HIF1A
18geldanamycin43 49 59 1212.1HIF1A, SETD2, VHL
19fumarate43 1210.1VHL, EPO, HIF1A
20bortezomib43 49 1211.0CA9, SETD2, HIF1A
21streptavidin438.9EPOR, HIF1A
22topotecan43 129.9HIF1A, SETD2, EPO
23mitomycin c438.8CA9, EPO, HIF1A
24asparagine438.8AVPR2, HIF1A, SETD2, EPOR
25actinomycin d438.7HIF1A, SETD2, EPOR, VHL
26wortmannin438.6HIF1A, SETD2, EPOR, SLC1A3
27phosphoinositide438.6HIF1A, SETD2, EPOR, SLC1A3
28cocl2438.6HIF1A, SETD2, EPO, VHL
29cobalt chloride438.6HIF1A, SETD2, EPO, VHL
30deferoxamine43 129.6VHL, EPO, SETD2, HIF1A
31cobalt43 249.6HIF1A, SETD2, EPO, VHL
32ascorbic acid43 249.6HIF1A, SETD2, EPO
33alanine438.6SLC1A3, EPOR, HIF1A, AVPR2
34butyrate438.4HIF1A, SETD2, EPO
35cisplatin43 49 59 1211.4HIF1A, SETD2, EPOR, EPO
36oligonucleotide438.3SLC1A3, VHL, EPOR, SETD2, HIF1A
37lactate438.3HIF1A, SETD2, EPO, CA9
38nitric oxide43 24 1210.3HIF1A, SETD2, EPOR, VHL, SLC1A3
39proline438.2HIF1A, SETD2, EPOR, VHL, CA9
40estrogen438.2HIF1A, SETD2, EPOR, VHL, CA9
41ly294002438.2HIF1A, SETD2, EPOR, EPO, VHL
42iron43 249.1HIF1A, SETD2, EPOR, EPO, VHL
43serine438.1HIF1A, SETD2, EPOR, VHL, SLC1A3
44rapamycin438.1HIF1A, SETD2, EPO, VHL, CA9
45pimonidazole438.0CA9, EPO, EPOR, SETD2, HIF1A
46phosphatidylinositol437.8AVPR2, HIF1A, SETD2, EPOR, EPO, VHL
47glucose437.8HIF1A, SETD2, EPOR, VHL, CA9, SLC1A3
48vegf437.6HIF1A, SETD2, EPOR, EPO, VHL, CA9
49oxygen43 248.6HIF1A, SETD2, EPOR, EPO, VHL, CA9
50tyrosine437.3AVPR2, HIF1A, SETD2, EPOR, EPO, VHL

GO Terms for genes affiliated with Endolymphatic Sac Tumor

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Biological processes related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to testosteroneGO:00335749.0CA9, EPO
2hemoglobin biosynthetic processGO:00425418.9EPO, HIF1A
3positive regulation of transcription, DNA-templatedGO:00458938.7VHL, EPO, HIF1A
4regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614188.2CA9, VHL, EPO, HIF1A
5cellular response to hypoxiaGO:00714568.1HIF1A, EPO, VHL, CA9

Products for genes affiliated with Endolymphatic Sac Tumor

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Sources for Endolymphatic Sac Tumor

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3CDC
13ExPASy
14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet