ELST
MCID: END051
MIFTS: 39

Endolymphatic Sac Tumor (ELST) malady

Rare diseases, Cancer diseases categories
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Summaries for Endolymphatic Sac Tumor

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Wikipedia:65 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 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 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 42 62
 
Elst 42


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/GeneDecks gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.8HIF1A, 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
18kidney cancer10.1CA9, VHL
19polycystic kidney disease10.1VHL, EPO
20refractory anemia10.1EPO, EPOR
21mental retardation10.1SLC1A3, VHL, AVPR2
22kidney rhabdoid cancer10.1CA9, VHL, HIF1A
23polycythemia vera10.1EPO, EPOR
24thrombocytosis10.0EPO, EPOR
25squamous cell carcinoma of the 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
33cerebrovascular disease9.9SLC1A3, EPOR, SETD2
34colorectal cancer9.9HIF1A, SETD2, CA9
35congenital heart disease9.9AVPR2, HIF1A, EPO
36ovarian cancer9.9HIF1A, SETD2, VHL
37colonic benign neoplasm9.8EPOR, SETD2, HIF1A
38factor v leiden thrombophilia9.8SETD2, EPO, VHL
39osteosarcoma9.8SLC1A3, SETD2, HIF1A
40pheochromocytoma9.8VHL, EPOR, SETD2, HIF1A
41bone marrow cancer9.8EPO, EPOR
42cervical cancer9.8CA9, EPOR, SETD2, HIF1A
43lung cancer9.8HIF1A, SETD2, VHL, CA9
44ischemia9.7SLC1A3, EPOR, SETD2, HIF1A
45polycythemia9.7VHL, EPO, EPOR, HIF1A
46pancreatic cancer9.7CA9, SETD2, HIF1A
47melanoma9.7HIF1A, SETD2, EPOR, CA9
48prostate cancer9.7HIF1A, SETD2, EPOR, CA9
49renal clear cell carcinoma9.6HIF1A, SETD2, EPOR, VHL, CA9
50non-small cell lung carcinoma9.6HIF1A, 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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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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MalaCards organs/tissues related to Endolymphatic Sac Tumor:

32
Bone

Animal Models for Endolymphatic Sac Tumor or affiliated genes

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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

36
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 74)
idTitleAuthorsYear
1
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. (24881035)
2014
2
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. (24966979)
2014
3
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor. (24966975)
2014
4
Cerebrospinal fluid cytology of an endolymphatic sac tumor. (25354959)
2014
5
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. (23070752)
2013
6
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. (24060358)
2013
7
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. (24003980)
2013
8
Surgical treatment of endolymphatic sac tumor. (22201305)
2012
9
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. (22706862)
2012
10
Papillary endolymphatic sac tumor: a case report. (22953101)
2012
11
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. (22777797)
2012
12
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. (21103895)
2011
13
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. (21891944)
2011
14
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. (23984214)
2011
15
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. (21574774)
2011
16
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
17
Endolymphatic sac tumor presenting with MAcniA"re's disease. (20493370)
2010
18
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. (20351605)
2010
19
Endolymphatic sac tumor of cerebellopontine angle. (19670571)
2009
20
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. (20069227)
2009
21
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. (18273509)
2008
22
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. (18423895)
2008
23
Surgery for endolymphatic sac tumor: whether and when to keep hearing? (19086306)
2008
24
Endolymphatic sac tumor: a report of 3 cases and discussion of management. (17315832)
2007
25
Cochlear implantation in a bilateral endolymphatic sac tumor patient. A case report. (17825433)
2007
26
Endolymphatic sac tumor of temporal bone. (16883752)
2006
27
Endolymphatic sac tumor located around semicircular canals. (16466878)
2006
28
Endolymphatic sac tumor metastatic to the spine. Case report. (16122027)
2005
29
Coexpression of erythropoietin and its receptor in endolymphatic sac tumors. (16175858)
2005
30
Differential grading of endolymphatic sac tumor extension by virtue of von Hippel-Lindau disease status. (15354010)
2004
31
Endolymphatic sac tumors in von Hippel-Lindau disease. (15035284)
2004
32
Endolymphatic sac tumor in a 4-year-old boy. (15354011)
2004
33
Endolymphatic sac tumor in von Hippel-Lindau disease. (14501465)
2003
34
Pathologic quiz case: a woman with right facial nerve paralysis. Endolymphatic sac tumor associated with von Hippel-Lindau disease. (14521446)
2003
35
Endolymphatic sac tumor: staged endovascular-neurosurgical approach. (12739230)
2003
36
Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone. (14710902)
2003
37
Endolymphatic sac tumor: unique features of two cases and review of the literature. (12382133)
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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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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Compounds for genes affiliated with Endolymphatic Sac Tumor

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Compounds related to Endolymphatic Sac Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1erex449.9EPO, EPOR
2nesp449.8EPOR, EPO
3pp 100449.8EPO, EPOR
4lenalidomide44 1110.7EPOR, EPO
5acetazolamide44 1110.6EPO, CA9
6echinomycin449.5HIF1A, SETD2
73-(5-hydroxymethyl-2-furyl)-1-benzylindazole449.5HIF1A, SETD2
8desmopressin44 61 28 1112.5EPO, AVPR2
9deferoxamine mesylate449.5SETD2, HIF1A
10sunitinib44 50 1111.4HIF1A, VHL
11chloride449.4SLC1A3, CA9, AVPR2
12apigenin44 2810.3SETD2, HIF1A
13histidine449.3SLC1A3, VHL, AVPR2
14inositol449.3SLC1A3, EPO, EPOR
155-aza-2deoxycytidine449.2CA9, VHL, EPO
16alpha-ketoglutarate449.1VHL, SETD2, HIF1A
17succinate449.1VHL, SETD2, HIF1A
18geldanamycin44 50 61 1112.1HIF1A, SETD2, VHL
19fumarate44 1110.1VHL, EPO, HIF1A
20bortezomib44 50 1111.0CA9, SETD2, HIF1A
21streptavidin448.9EPOR, HIF1A
22topotecan44 119.9HIF1A, SETD2, EPO
23mitomycin c448.8CA9, EPO, HIF1A
24asparagine448.8AVPR2, HIF1A, SETD2, EPOR
25actinomycin d448.7HIF1A, SETD2, EPOR, VHL
26wortmannin448.6HIF1A, SETD2, EPOR, SLC1A3
27phosphoinositide448.6HIF1A, SETD2, EPOR, SLC1A3
28cocl2448.6HIF1A, SETD2, EPO, VHL
29cobalt chloride448.6HIF1A, SETD2, EPO, VHL
30deferoxamine44 119.6VHL, EPO, SETD2, HIF1A
31cobalt44 249.6HIF1A, SETD2, EPO, VHL
32ascorbic acid44 249.6HIF1A, SETD2, EPO
33alanine448.6SLC1A3, EPOR, HIF1A, AVPR2
34butyrate448.4HIF1A, SETD2, EPO
35cisplatin44 50 61 1111.4HIF1A, SETD2, EPOR, EPO
36oligonucleotide448.3SLC1A3, VHL, EPOR, SETD2, HIF1A
37lactate448.3HIF1A, SETD2, EPO, CA9
38nitric oxide44 24 1110.3HIF1A, SETD2, EPOR, VHL, SLC1A3
39proline448.2HIF1A, SETD2, EPOR, VHL, CA9
40estrogen448.2HIF1A, SETD2, EPOR, VHL, CA9
41ly294002448.2HIF1A, SETD2, EPOR, EPO, VHL
42iron44 249.1HIF1A, SETD2, EPOR, EPO, VHL
43serine448.1HIF1A, SETD2, EPOR, VHL, SLC1A3
44rapamycin448.1HIF1A, SETD2, EPO, VHL, CA9
45pimonidazole448.0CA9, EPO, EPOR, SETD2, HIF1A
46phosphatidylinositol447.8AVPR2, HIF1A, SETD2, EPOR, EPO, VHL
47glucose447.8HIF1A, SETD2, EPOR, VHL, CA9, SLC1A3
48vegf447.6HIF1A, SETD2, EPOR, EPO, VHL, CA9
49oxygen44 248.6HIF1A, SETD2, EPOR, EPO, VHL, CA9
50tyrosine447.3AVPR2, 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/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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet