MCID: END051
MIFTS: 29

Endolymphatic Sac Tumor

Categories: Rare diseases

Aliases & Classifications for Endolymphatic Sac Tumor

MalaCards integrated aliases for Endolymphatic Sac Tumor:

Name: Endolymphatic Sac Tumor 54 17 74
Elst 54

Classifications:



External Ids:

UMLS 74 C2348239

Summaries for Endolymphatic Sac Tumor

MalaCards based summary : Endolymphatic Sac Tumor, also known as elst, is related to renal cell carcinoma, nonpapillary 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, prostate and thymus, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 An endolymphatic sac tumor (ELST) 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 55)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 29.7 KRT7 KRT8 VHL
2 von hippel-lindau syndrome 11.8
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 meniere disease 10.2
5 pathologic nystagmus 10.1
6 aneurysmal bone cysts 10.1
7 melanotic neuroectodermal tumor 10.1
8 glomus tumor 10.1
9 adenocarcinoma 10.1
10 papillary adenocarcinoma 10.1
11 papillary adenoma 10.1
12 cerebellopontine angle tumor 10.1
13 adenoma 10.1
14 hypoxia 10.1
15 hemangioblastoma 10.0 KRT8 VHL
16 proliferating trichilemmal cyst 9.9 KRT7 KRT8
17 hidrocystoma 9.9 KRT7 KRT8
18 cutaneous adenocystic carcinoma 9.9 KRT7 KRT8
19 adenoid squamous cell carcinoma 9.9 KRT7 KRT8
20 clear cell papillary renal cell carcinoma 9.9 KRT7 VHL
21 apocrine sweat gland neoplasm 9.9 KRT7 KRT8
22 nasal cavity cancer 9.9 KRT7 KRT8
23 pancreatic serous cystadenoma 9.9 KRT7 VHL
24 cystadenoma 9.9 KRT7 VHL
25 brooke-spiegler syndrome 9.9 KRT7 KRT8
26 prostate squamous cell carcinoma 9.9 KRT7 KRT8
27 pleomorphic carcinoma 9.9 KRT7 KRT8
28 mucinous tubular and spindle renal cell carcinoma 9.9 KRT7 KRT8
29 lymphoepithelioma-like carcinoma 9.9 KRT7 KRT8
30 nasal cavity squamous cell carcinoma 9.9 KRT7 KRT8
31 thymus lipoma 9.9 KRT7 KRT8
32 atypical choroid plexus papilloma 9.9 KRT7 KRT8
33 papilloma 9.9 KRT7 KRT8
34 breast secretory carcinoma 9.9 KRT7 KRT8
35 pregnancy adenoma 9.9 KRT7 KRT8
36 immune system organ benign neoplasm 9.9 KRT7 KRT8
37 basaloid squamous cell carcinoma 9.9 KRT7 KRT8
38 mammary paget's disease 9.9 KRT7 KRT8
39 intraneural perineurioma 9.9 KRT7 KRT8
40 gastric tubular adenocarcinoma 9.9 KRT7 KRT8
41 nephrogenic adenofibroma 9.9 KRT7 KRT8
42 epithelioid sarcoma 9.8 KRT7 KRT8
43 primary cutaneous amyloidosis 9.8 KRT7 KRT8
44 adenosquamous carcinoma 9.8 KRT7 KRT8
45 sweat gland cancer 9.8 KRT7 KRT8
46 oncocytoma 9.8 KRT7 KRT8
47 chromophobe renal cell carcinoma 9.8 KRT7 KRT8
48 craniopharyngioma 9.8 KRT7 KRT8
49 merkel cell carcinoma 9.8 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:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 KRT8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.7 KRT7 KRT8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.7 KRT7 KRT8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.7 KRT8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.7 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

MGI Mouse Phenotypes related to Endolymphatic Sac Tumor:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 AVPR2 KRT7 VHL

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:

42
Bone, Prostate, Thymus, Testes

Publications for Endolymphatic Sac Tumor

Articles related to Endolymphatic Sac Tumor:

(show top 50) (show all 84)
# Title Authors Year
1
Melanotic Neuroectodermal Tumor Presenting as Endolymphatic Sac Tumor. ( 30955377 )
2019
2
Endolymphatic sac tumor at the cerebellopontine angle: A case report and review of literature. ( 31051407 )
2019
3
Current Treatment of Endolymphatic Sac Tumor of the Temporal Bone. ( 29923043 )
2018
4
Sequential Imaging in Patient With Suspected Menière's Disease Identifies Endolymphatic Sac Tumor. ( 30124615 )
2018
5
Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls. ( 30340515 )
2018
6
High-resolution MRI of the inner ear enables syndrome differentiation and specific treatment of cerebellar downbeat nystagmus and secondary endolymphatic hydrops in a postoperative ELST patient. ( 29644399 )
2018
7
A blue middle ear mass: Cholesterol granuloma mimicking a glomus tumor and endolymphatic sac tumor. ( 27931523 )
2017
8
Intraoperative Electrocochleography: A Window Into Endolymphatic Hydrops in a Patient With an Endolymphatic Sac Tumor. ( 28106624 )
2017
9
Endolymphatic Sac Tumor in Two Dogs. ( 28171732 )
2017
10
Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness. ( 28716765 )
2017
11
Post-surgery pCASL perfusion MRI of endolymphatic sac tumor. ( 28802960 )
2017
12
Endolymphatic Sac Tumor in von Hippel-Lindau Disease: A Rare Case Report. ( 29204213 )
2017
13
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. ( 25867206 )
2016
14
An Unusual Outcome After Mastoidectomy. Endolymphatic sac tumor. ( 26633706 )
2016
15
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. ( 26991214 )
2016
16
Endolymphatic Sac Tumor Showing Increased Activity on 68Ga DOTATATE PET/CT. ( 27454593 )
2016
17
Three sporadic cases of endolymphatic sac tumor. ( 27841219 )
2016
18
Papillary endolymphatic sac tumor: Catastrophic presentation in a child. ( 24060358 )
2015
19
Cerebrospinal fluid cytology of an endolymphatic sac tumor. ( 25354959 )
2015
20
Clinicopathologic study of endolymphatic sac tumor (ELST) and differential diagnosis of papillary tumors located at the cerebellopontine angle. ( 25944396 )
2015
21
An endolymphatic sac tumor with imaging features of aneurysmal bone cysts: differential diagnostic considerations. ( 24881035 )
2014
22
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor. ( 24966975 )
2014
23
Sporadic endolymphatic sac tumor--a diagnostic and therapeutic challenge. ( 24966979 )
2014
24
The Gruppo Otologico experience of endolymphatic sac tumor. ( 22326122 )
2013
25
Sporadic endolymphatic sac tumor: its clinical, radiological, and histological features, management, and follow-up. ( 22367728 )
2013
26
Imaging detection of endolymphatic sac tumor-associated hydrops. ( 23472846 )
2013
27
Endolymphatic sac tumor and otalgia. ( 23543975 )
2013
28
Endolymphatic sac tumor. ( 23599098 )
2013
29
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. ( 24003980 )
2013
30
Endolymphatic sac tumour (ELST). Case report of a rare tumour of the temporal bone, presenting as a mass in a cerebello-pontine angle. ( 23821389 )
2013
31
[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene]. ( 24444636 )
2013
32
Surgical treatment of endolymphatic sac tumor. ( 22201305 )
2012
33
Endolymphatic sac tumor: case report and review of the literature. ( 22472343 )
2012
34
Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease. ( 22777797 )
2012
35
Papillary endolymphatic sac tumor: a case report. ( 22953101 )
2012
36
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
37
Endolymphatic sac tumor with overexpression of V2 receptor mRNA and inner ear hydrops. ( 21574774 )
2011
38
Gamma knife treatment of an endolymphatic sac tumor: unique features of a case and review of the literature. ( 21891944 )
2011
39
Flap reconstruction and hyperbaric oxygen therapy in the management of temporal bone osteoradionecrosis in an endolymphatic sac tumor: case report. ( 23984214 )
2011
40
Endolymphatic sac tumor. ( 27307901 )
2011
41
Endolymphatic sac tumor presenting with Ménière's disease. ( 20493370 )
2010
42
Isolate vertigo crisis revealing an endolymphatic sac tumor. ( 20495761 )
2010
43
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. ( 20850701 )
2010
44
Endolymphatic sac tumor of cerebellopontine angle. ( 19670571 )
2009
45
Endolymphatic sac tumor and von Hippel-Lindau disease in a single family. ( 20069227 )
2009
46
Giant intracranial endolymphatic sac tumor (ELST). Case presentation and histogenetic considerations. ( 18273509 )
2008
47
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. ( 18423895 )
2008
48
An unusual presentation and spread of an endolymphatic sac tumor. ( 18520592 )
2008
49
Surgery for endolymphatic sac tumor: whether and when to keep hearing? ( 19086306 )
2008
50
Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome. ( 25390606 )
2008

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

Sources for Endolymphatic Sac Tumor

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