MCID: END051
MIFTS: 27

Endolymphatic Sac Tumor

Categories: Rare diseases

Aliases & Classifications for Endolymphatic Sac Tumor

MalaCards integrated aliases for Endolymphatic Sac Tumor:

Name: Endolymphatic Sac Tumor 49 69
Elst 49

Classifications:



External Ids:

UMLS 69 C2348239

Summaries for Endolymphatic Sac Tumor

MalaCards based summary : Endolymphatic Sac Tumor, also known as elst, is related to hemangioblastoma and von hippel-lindau syndrome. An important gene associated with Endolymphatic Sac Tumor is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 An endolymphatic sac tumor is a very uncommon papillary epithelial neoplasm arising within the... more...

Related Diseases for Endolymphatic Sac Tumor

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 29.9 KRT8 VHL
2 von hippel-lindau syndrome 11.6
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 proliferating trichilemmal cyst 10.1 KRT7 KRT8
5 cutaneous adenocystic carcinoma 10.1 KRT7 KRT8
6 hidrocystoma 10.1 KRT7 KRT8
7 prostate squamous cell carcinoma 10.0 KRT7 KRT8
8 clear cell papillary renal cell carcinoma 10.0 KRT7 VHL
9 apocrine sweat gland neoplasm 10.0 KRT7 KRT8
10 pancreatic serous cystadenoma 10.0 KRT7 VHL
11 nasal cavity cancer 10.0 KRT7 KRT8
12 brooke-spiegler syndrome 10.0 KRT7 KRT8
13 pleomorphic carcinoma 10.0 KRT7 KRT8
14 mucinous tubular and spindle renal cell carcinoma 10.0 KRT7 KRT8
15 fibrolamellar carcinoma 10.0 KRT7 KRT8
16 atypical choroid plexus papilloma 10.0 KRT7 KRT8
17 lymphoepithelioma-like carcinoma 10.0 KRT7 KRT8
18 nasal cavity squamous cell carcinoma 10.0 KRT7 KRT8
19 immune system organ benign neoplasm 10.0 KRT7 KRT8
20 thymus lipoma 10.0 KRT7 KRT8
21 breast secretory carcinoma 10.0 KRT7 KRT8
22 basaloid squamous cell carcinoma 10.0 KRT7 KRT8
23 gastric tubular adenocarcinoma 10.0 KRT7 KRT8
24 mammary paget's disease 10.0 KRT7 KRT8
25 intraneural perineurioma 10.0 KRT7 KRT8
26 nephrogenic adenofibroma 10.0 KRT7 KRT8
27 secretory meningioma 10.0 KRT7 KRT8
28 sweat gland cancer 10.0 KRT7 KRT8
29 cystadenoma 10.0 KRT7 VHL
30 epithelioid sarcoma 10.0 KRT7 KRT8
31 primary cutaneous amyloidosis 9.9 KRT7 KRT8
32 adenosquamous carcinoma 9.9 KRT7 KRT8
33 branchiootic syndrome 1 9.9
34 aneurysmal bone cysts 9.9
35 choroiditis 9.9
36 pharyngitis 9.9
37 glomus tumor 9.9
38 central nervous system origin vertigo 9.9
39 adenocarcinoma 9.9
40 papillary adenocarcinoma 9.9
41 papillary adenoma 9.9
42 cerebellopontine angle tumor 9.9
43 adenoma 9.9
44 aneurysm 9.9
45 hypoxia 9.9
46 oncocytoma 9.9 KRT7 KRT8
47 chromophobe renal cell carcinoma 9.9 KRT7 KRT8
48 craniopharyngioma 9.9 KRT7 KRT8
49 merkel cell carcinoma 9.9 KRT7 KRT8
50 sarcoma, synovial 9.8 KRT7 KRT8

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



Diseases related to Endolymphatic Sac Tumor

Symptoms & Phenotypes for Endolymphatic Sac Tumor

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.53 KRT8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.53 KRT7 KRT8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.53 KRT8 KRT7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 KRT8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 KRT7 KRT8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 KRT8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.5 KRT8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.5 KRT7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.5 KRT7 KRT8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.5 KRT7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 KRT7

Drugs & Therapeutics for Endolymphatic Sac Tumor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endolymphatic 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 Tumors Completed NCT00001668
2 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067

Search NIH Clinical Center for Endolymphatic Sac Tumor

Genetic Tests for Endolymphatic Sac Tumor

Anatomical Context for Endolymphatic Sac Tumor

MalaCards organs/tissues related to Endolymphatic Sac Tumor:

38
Bone

Publications for Endolymphatic Sac Tumor

Articles related to Endolymphatic Sac Tumor:

(show top 50) (show all 85)
# Title Authors Year
1
Post-surgery pCASL perfusion MRI of endolymphatic sac tumor. ( 28802960 )
2017
2
Endolymphatic Sac Tumor in Two Dogs. ( 28171732 )
2017
3
Endolymphatic Sac Tumor in von Hippel-Lindau Disease: A Rare Case Report. ( 29204213 )
2017
4
Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness. ( 28716765 )
2017
5
Intraoperative Electrocochleography: A Window Into Endolymphatic Hydrops in a Patient With an Endolymphatic Sac Tumor. ( 28106624 )
2017
6
A blue middle ear mass: Cholesterol granuloma mimicking a glomus tumor and endolymphatic sac tumor. ( 27931523 )
2017
7
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. ( 26991214 )
2016
8
Three sporadic cases of endolymphatic sac tumor. ( 27841219 )
2016
9
Endolymphatic Sac Tumor Showing Increased Activity on 68Ga DOTATATE PET/CT. ( 27454593 )
2016
10
An Unusual Outcome After Mastoidectomy. Endolymphatic sac tumor. ( 26633706 )
2016
11
Clinicopathologic study of endolymphatic sac tumor (ELST) and differential diagnosis of papillary tumors located at the cerebellopontine angle. ( 25944396 )
2015
12
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the international ELST registry. ( 25867206 )
2015
13
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor. ( 24966975 )
2014
14
Cerebrospinal fluid cytology of an endolymphatic sac tumor. ( 25354959 )
2014
15
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. ( 24966979 )
2014
16
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. ( 24881035 )
2014
17
Imaging detection of endolymphatic sac tumor-associated hydrops. ( 23472846 )
2013
18
Sporadic endolymphatic sac tumor: its clinical, radiological, and histological features, management, and follow-up. ( 22367728 )
2013
19
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. ( 24060358 )
2013
20
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. ( 23070752 )
2013
21
Endolymphatic sac tumor and otalgia. ( 23543975 )
2013
22
Endolymphatic sac tumor. ( 23599098 )
2013
23
The Gruppo Otologico experience of endolymphatic sac tumor. ( 22326122 )
2013
24
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. ( 24003980 )
2013
25
Papillary endolymphatic sac tumor: a case report. ( 22953101 )
2012
26
Surgical treatment of endolymphatic sac tumor. ( 22201305 )
2012
27
Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors. ( 22706862 )
2012
28
Endolymphatic sac tumor: case report and review of the literature. ( 22472343 )
2012
29
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. ( 22777797 )
2012
30
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. ( 21574774 )
2011
31
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
32
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. ( 21891944 )
2011
33
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. ( 23984214 )
2011
34
Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report. ( 21103895 )
2011
35
von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors. ( 21912262 )
2011
36
Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases. ( 20351605 )
2010
37
Isolate vertigo crisis revealing an endolymphatic sac tumor. ( 20495761 )
2010
38
Endolymphatic sac tumor presenting with MAcniA"re's disease. ( 20493370 )
2010
39
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. ( 20850701 )
2010
40
Endolymphatic sac tumor of cerebellopontine angle. ( 19670571 )
2009
41
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. ( 20069227 )
2009
42
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. ( 18273509 )
2008
43
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. ( 18423895 )
2008
44
An unusual presentation and spread of an endolymphatic sac tumor. ( 18520592 )
2008
45
Re: Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease. ( 17728688 )
2007
46
Spinal metastasis from endolymphatic sac tumor. ( 17416807 )
2007
47
Cochlear implantation in a bilateral endolymphatic sac tumor patient. A case report. ( 17825433 )
2007
48
Endolymphatic sac tumor demonstrated by intralabyrinthine hemorrhage. Case report. ( 17695400 )
2007
49
Origin of endolymphatic sac tumor. ( 20614260 )
2007
50
Endolymphatic sac tumor: a report of 3 cases and discussion of management. ( 17315832 )
2007

Variations for Endolymphatic Sac Tumor

Expression for Endolymphatic Sac Tumor

Search GEO for disease gene expression data for Endolymphatic Sac Tumor.

Pathways for Endolymphatic Sac Tumor

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 KRT7 KRT8

GO Terms for Endolymphatic Sac Tumor

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT7 KRT8
2 keratin filament GO:0045095 8.62 KRT7 KRT8

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 KRT7 KRT8
2 cornification GO:0070268 8.62 KRT7 KRT8

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 KRT7 KRT8

Sources for Endolymphatic Sac Tumor

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