MCID: END051
MIFTS: 24

Endolymphatic Sac Tumor malady

Category: Rare diseases

Aliases & Classifications for Endolymphatic Sac Tumor

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Aliases & Descriptions for Endolymphatic Sac Tumor:

Name: Endolymphatic Sac Tumor 46 66
 
Elst 46

Classifications:



Summaries for Endolymphatic Sac Tumor

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Wikipedia:69 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 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome. An important gene associated with Endolymphatic Sac Tumor is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways are EGFR1 Signaling Pathway and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone, and related mouse phenotype renal/urinary system.

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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome10.7
2global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.1KRT7, VHL
3pancreatic serous cystic neoplasm10.1KRT7, VHL
4aneurysmal bone cysts9.9
5choroiditis9.9
6pharyngitis9.9
7adenocarcinoma9.9
8papillary adenocarcinoma9.9
9papillary adenoma9.9
10cerebellopontine angle tumor9.9
11hemangioblastoma9.9
12adenoma9.9
13aneurysm9.9
14hypoxia9.9
15propriospinal myoclonus9.9KRT7, KRT8
16anterior horn cell disease9.9KRT7, KRT8
17familial periodic paralysis9.9KRT7, KRT8
18epidermal nevus vitamin d resistant rickets9.9KRT7, KRT8
19mast-cell sarcoma9.8KRT7, KRT8
20uterine benign neoplasm9.8KRT7, KRT8
21rectal neoplasm9.8KRT7, KRT8
22rhinitis9.8KRT7, KRT8
23male reproductive organ cancer9.8KRT7, KRT8
24bronchiolo-alveolar adenocarcinoma9.8KRT7, KRT8
25pediatric meningioma9.8KRT7, KRT8
26kummell's disease9.8KRT7, KRT8
27renal tubular transport disease9.8KRT7, VHL
28mucinous adenofibroma9.8KRT7, KRT8
29nerve fibre bundle defect9.8KRT7, KRT8
30nerve root neoplasm9.7KRT7, KRT8
31retroperitoneal germ cell neoplasm9.7KRT7, KRT8
32cystic nephroma9.7KRT7, KRT8
33distal arthrogryposis9.7KRT7, KRT8
34central nervous system vasculitis9.5KRT8, VHL
35kidney hemangiopericytoma9.5KRT7, KRT8
36ectodermal dysplasia with natal teeth, turnpenny type9.4KRT7, KRT8
37amyloidosis, hereditary, transthyretin-related9.2KRT7, KRT8
38renal cell carcinoma8.9KRT7, KRT8, VHL
39embryonal sarcoma8.8AVPR2, KRT7, KRT8, VHL

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac TumorsCompletedNCT00001668
2Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) PatientsRecruitingNCT02420067

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:

34
Bone

Animal Models for Endolymphatic Sac Tumor or affiliated genes

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MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1AVPR2, KRT7, VHL

Publications for Endolymphatic Sac Tumor

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Articles related to Endolymphatic Sac Tumor:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
An Unusual Outcome After Mastoidectomy. Endolymphatic sac tumor. (26633706)
2016
2
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. (26991214)
2016
3
Clinicopathologic study of endolymphatic sac tumor (ELST) and differential diagnosis of papillary tumors located at the cerebellopontine angle. (25944396)
2015
4
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. (24881035)
2014
5
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. (24966979)
2014
6
Cerebrospinal fluid cytology of an endolymphatic sac tumor. (25354959)
2014
7
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. (23070752)
2013
8
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. (24060358)
2013
9
Imaging detection of endolymphatic sac tumor-associated hydrops. (23472846)
2013
10
Endolymphatic sac tumor and otalgia. (23543975)
2013
11
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. (22706862)
2012
12
Papillary endolymphatic sac tumor: a case report. (22953101)
2012
13
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. (22777797)
2012
14
Surgical treatment of endolymphatic sac tumor. (22201305)
2012
15
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. (21891944)
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
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. (21103895)
2011
19
Endolymphatic sac tumor presenting with MAcniA"re's disease. (20493370)
2010
20
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. (20351605)
2010
21
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. (20850701)
2010
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
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. (18273509)
2008
25
Endolymphatic sac tumor: a report of 3 cases and discussion of management. (17315832)
2007
26
Endolymphatic sac tumors in von Hippel-Lindau disease. (17875849)
2007
27
Re: Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. (17728688)
2007
28
Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. (17468670)
2007
29
Spinal metastasis from endolymphatic sac tumor. (17416807)
2007
30
Metastatic squamous carcinoma with features typical of an endolymphatic sac tumor. (16691152)
2006
31
Endolymphatic sac tumor of temporal bone. (16883752)
2006
32
Differential grading of endolymphatic sac tumor extension by virtue of von Hippel-Lindau disease status. (15354010)
2004
33
Surgical treatment of endolymphatic sac tumor with adjunctive stereotactic radiation therapy--case report. (15686180)
2004
34
Endolymphatic sac tumors in von Hippel-Lindau disease. (15035284)
2004
35
Endolymphatic sac tumor in von Hippel-Lindau disease. (14501465)
2003
36
Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone. (14710902)
2003
37
Pathologic quiz case: a woman with right facial nerve paralysis. Endolymphatic sac tumor associated with von Hippel-Lindau disease. (14521446)
2003
38
Cytology of endolymphatic sac tumor. (11557790)
2001
39
Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient: an immunohistochemical study. (11455007)
2001
40
Pathology quiz case 1: Endolymphatic sac tumor (ELST). (11735824)
2001
41
Endolymphatic sac tumor: a case report. (11489369)
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
Endolymphatic sac tumor: a case report and review of the literature. (9315135)
1997
50
Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. (9145719)
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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Pathways related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1KRT7, KRT8
2
Show member pathways
9.1KRT7, KRT8

GO Terms for genes affiliated with Endolymphatic Sac Tumor

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Cellular components related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.1KRT7, KRT8
2keratin filamentGO:00450958.8KRT7, KRT8

Molecular functions related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1KRT7, KRT8

Sources for Endolymphatic Sac Tumor

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet