ELST
MCID: END051
MIFTS: 25

Endolymphatic Sac Tumor (ELST) malady

Category: Rare diseases

Aliases & Classifications for Endolymphatic Sac Tumor

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Aliases & Descriptions for Endolymphatic Sac Tumor:

Name: Endolymphatic Sac Tumor 48 68
 
Elst 48

Classifications:



Summaries for Endolymphatic Sac Tumor

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Wikipedia:71 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 proteus-like syndrome. An important gene associated with Endolymphatic Sac Tumor is KRT8 (Keratin 8), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Increased shRNA abundance (Z-score > 2).

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 41)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome11.4
2proteus-like syndrome10.1KRT7, KRT8
3bartholin's gland adenoid cystic carcinoma10.1KRT7, KRT8
4prostate lymphoma10.1KRT7, KRT8
5middle ear adenocarcinoma10.1KRT7, KRT8
6duodenal obstruction10.1KRT7, KRT8
7sarcomatoid mesothelioma10.1KRT7, KRT8
8adenoid squamous cell carcinoma10.1KRT7, KRT8
9sensory organ benign neoplasm10.1KRT7, KRT8
10rectum lymphoma10.1KRT7, KRT8
11nasal cavity adenocarcinoma10.1KRT7, KRT8
12distal arthrogryposis10.1KRT7, KRT8
13vaginal villous adenoma10.1KRT7, KRT8
14mongolian spot10.1KRT7, KRT8
15generalized eruptive keratoacanthoma10.1KRT7, VHL
16nodular tenosynovitis10.1KRT7, KRT8
17main bronchus cancer10.1KRT7, VHL
18malignant adult ependymoma10.0KRT7, KRT8
19intestinal benign neoplasm10.0KRT7, KRT8
20chronic granulomatous disease10.0KRT7, KRT8
21odontotrichoungual-digital-palmar syndrome10.0KRT7, KRT8
22granular cell leiomyosarcoma10.0KRT8, VHL
23amyloidosis, hereditary, transthyretin-related10.0KRT7, KRT8
24dysembryoplastic neuroepithelial tumor10.0KRT7, KRT8
25placenta praevia10.0KRT7, KRT8
26orchitis9.9KRT7, KRT8
27autonomic nervous system neoplasm9.8KRT7, KRT8
28aneurysmal bone cysts9.8
29choroiditis9.8
30pharyngitis9.8
31glomus tumor9.8
32adenocarcinoma9.8
33papillary adenocarcinoma9.8
34papillary adenoma9.8
35cerebellopontine angle tumor9.8
36hemangioblastoma9.8
37adenoma9.8
38aneurysm9.8
39hypoxia9.8
40bernard-soulier syndrome, type c9.8KRT7, KRT8, VHL
41envenomization by bothrops lanceolatus9.5AVPR2, KRT7, KRT8, VHL

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



Diseases related to endolymphatic sac tumor

Symptoms & Phenotypes for Endolymphatic Sac Tumor

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GenomeRNAi Phenotypes related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.1KRT7, KRT8
2GR00366-A-1927.3KRT7, KRT8, KRT7, KRT8, KRT7, KRT8

MGI Mouse Phenotypes related to Endolymphatic Sac Tumor according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9AVPR2, KRT7, VHL

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:

36
Bone

Publications for Endolymphatic Sac Tumor

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Articles related to Endolymphatic Sac Tumor:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
A blue middle ear mass: Cholesterol granuloma mimicking a glomus tumor and endolymphatic sac tumor. (27931523)
2017
2
Three sporadic cases of endolymphatic sac tumor. (27841219)
2016
3
An Unusual Outcome After Mastoidectomy. Endolymphatic sac tumor. (26633706)
2016
4
Endolymphatic Sac Tumor Showing Increased Activity on 68Ga DOTATATE PET/CT. (27454593)
2016
5
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. (26991214)
2016
6
Clinicopathologic study of endolymphatic sac tumor (ELST) and differential diagnosis of papillary tumors located at the cerebellopontine angle. (25944396)
2015
7
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the international ELST registry. (25867206)
2015
8
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. (24881035)
2014
9
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor. (24966975)
2014
10
Cerebrospinal fluid cytology of an endolymphatic sac tumor. (25354959)
2014
11
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. (24966979)
2014
12
Imaging detection of endolymphatic sac tumor-associated hydrops. (23472846)
2013
13
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. (23070752)
2013
14
The Gruppo Otologico experience of endolymphatic sac tumor. (22326122)
2013
15
Endolymphatic sac tumor. (23599098)
2013
16
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. (24003980)
2013
17
Endolymphatic sac tumor and otalgia. (23543975)
2013
18
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. (24060358)
2013
19
Sporadic endolymphatic sac tumor: its clinical, radiological, and histological features, management, and follow-up. (22367728)
2013
20
Papillary endolymphatic sac tumor: a case report. (22953101)
2012
21
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. (22706862)
2012
22
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. (22777797)
2012
23
Endolymphatic sac tumor: case report and review of the literature. (22472343)
2012
24
Surgical treatment of endolymphatic sac tumor. (22201305)
2012
25
von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors. (21912262)
2011
26
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. (21891944)
2011
27
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
28
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. (21103895)
2011
29
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. (23984214)
2011
30
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. (21574774)
2011
31
Isolate vertigo crisis revealing an endolymphatic sac tumor. (20495761)
2010
32
Endolymphatic sac tumor presenting with MAcniA"re's disease. (20493370)
2010
33
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. (20351605)
2010
34
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. (20850701)
2010
35
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. (20069227)
2009
36
Endolymphatic sac tumor of cerebellopontine angle. (19670571)
2009
37
An unusual presentation and spread of an endolymphatic sac tumor. (18520592)
2008
38
Surgery for endolymphatic sac tumor: whether and when to keep hearing? (19086306)
2008
39
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. (18273509)
2008
40
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. (18423895)
2008
41
Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. (17468670)
2007
42
Spinal metastasis from endolymphatic sac tumor. (17416807)
2007
43
Endolymphatic sac tumor demonstrated by intralabyrinthine hemorrhage. Case report. (17695400)
2007
44
Re: Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. (17728688)
2007
45
Endolymphatic sac tumor: a report of 3 cases and discussion of management. (17315832)
2007
46
Origin of endolymphatic sac tumor. (20614260)
2007
47
Cochlear implantation in a bilateral endolymphatic sac tumor patient. A case report. (17825433)
2007
48
Endolymphatic sac tumors in von Hippel-Lindau disease. (17875849)
2007
49
Endolymphatic sac tumor located around semicircular canals. (16466878)
2006
50
Metastatic squamous carcinoma with features typical of an endolymphatic sac tumor. (16691152)
2006

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
1
Show member pathways
9.4KRT7, 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:000588210.0KRT7, KRT8
2keratin filamentGO:00450959.4KRT7, KRT8

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

idNameGO IDScoreTop Affiliating Genes
1cornificationGO:007026810.0KRT7, KRT8
2keratinizationGO:00314249.4KRT7, KRT8

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.4KRT7, KRT8

Sources for Endolymphatic Sac Tumor

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet