MCID: CHL069
MIFTS: 54

Cholesteatoma malady

Rare diseases, Skin diseases, Ear diseases categories
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Summaries for Cholesteatoma

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Cholesteatoma is a type of skin cyst located in the middle ear. it can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. the hallmark symptom is a painless discharge from the ear.hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. surgery can stop infections and prevent complications.   last updated: 12/30/2009

MalaCards: Cholesteatoma, also known as secondary acquired cholesteatoma, is related to middle ear cholesteatoma and keratosis. An important gene associated with Cholesteatoma is DEFB4A (defensin, beta 4A), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and Cytoskeleton remodeling Keratin filaments. The compounds helenalin and dnfb have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Wikipedia:65 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Aliases & Classifications for Cholesteatoma

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases, Ear diseases


Aliases & Descriptions:

cholesteatoma 8 43 10 45 62
secondary acquired cholesteatoma 43
primary acquired cholesteatoma 43
cholesteatoma, unspecified 8
congenital cholesteatoma 43


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Disease Ontology8 DOID:869
MeSH35 D002781
ICD9CM27 385.30
NCIt40 C2944

Related Diseases for Cholesteatoma

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17GeneCards, 18GeneDecks
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Diseases related to Cholesteatoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1middle ear cholesteatoma31.5DEFB4A, KRT13, IL1A, CHKB, MMP9, TNFSF11
2keratosis30.2KRT16, KRT10, FLG
3congenital ichthyosiform erythroderma29.9KRT10, FLG
4otitis media10.8
5suppurative otitis media10.6
6labyrinthitis10.3
7tympanosclerosis10.2
8cholesteatoma of external ear10.2
9maxillary sinus cholesteatoma10.2
10facial paralysis10.2
11cholesteatoma of attic10.2
12congenital aural atresia10.2
13periodontal disease10.1TNFSF11
14oral candidiasis10.1DEFB4A
15candidiasis10.1DEFB4A
16periapical granuloma10.1TNFSF11
17irritant dermatitis10.1KRT16
18pachyonychia congenita10.1KRT16
19cardiac rupture10.1CHKB
20synovitis10.1IL1A, TNFSF11
21periodontitis10.1IL1A, MMP9
22arthritis10.1TNFSF11, IL1A
23gingivitis10.1IL1A, TNFSF11
24psoriatic arthritis10.1IL1A, TNFSF11
25tonsillitis10.1DEFB4A, DEFB1
26giant cell tumor10.1TNFSF11, MMP9
27contact dermatitis10.1FLG
28cleft palate10.1
29sensorineural hearing loss10.1
30lateral sinus thrombosis10.1
31fibrous dysplasia10.1
32cervicitis10.1
33meningitis10.1
34middle ear disease10.1
35microtia10.1
36hypoxia10.1
37endotheliitis10.1
38bone carcinoma10.1MMP9, TNFSF11
39idiopathic myopathy10.1CHKB, IL1A
40duodenal ulcer10.1DEFB4A, DEFB1
41steatocystoma multiplex10.1KRT16, KRT10
42skin disease10.1IL1A, MMP9
43palmoplantar keratosis10.1KRT16, KRT10
44dermatomyositis10.0CHKB, IL1A
45polymyositis10.0IL1A, CHKB
46sarcoidosis10.0IL1A, DEFB1, DEFB4A
47hypercalcemia10.0TNFSF11, IL1A
48epidermolytic hyperkeratosis10.0FLG, KRT10
49cork-handlers' disease10.0DEFB4A, DEFB1, MMP9
50cystic fibrosis10.0DEFB4A, DEFB1, KRT13

Graphical network of the top 20 diseases related to Cholesteatoma:



Diseases related to cholesteatoma

Symptoms for Cholesteatoma

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Drugs & Therapeutics for Cholesteatoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cholesteatoma

Search NIH Clinical Center for Cholesteatoma

Genetic Tests for Cholesteatoma

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Anatomical Context for Cholesteatoma

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33MalaCards
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MalaCards organs/tissues related to Cholesteatoma:

33
Bone, Skin, Brain, Endothelial, Placenta, Monocytes, Temporal lobe

Animal Models for Cholesteatoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cholesteatoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7TNFSF11, MMP9, CHKB, KRT10
2MP:00053828.1KRT16, KRT10, FLG, TNFSF11
3MP:00107718.1KRT16, KRT10, MMP9, FLG, TNFSF11
4MP:00053877.7DEFB1, TNFSF11, FLG, MMP9, IL1A, KRT10
5MP:00053767.6FLG, MMP9, CHKB, IL1A, KRT16, TNFSF11

Publications for Cholesteatoma

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52PubMed
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Articles related to Cholesteatoma:

(show top 50)    (show all 727)
idTitleAuthorsYear
1
Congenital cholesteatoma in identical twins. (23217274)
2013
2
Letter to the Editor regarding 'Pie-slice tympanoplasty for transcanal removal of small congenital cholesteatoma'. (23415070)
2013
3
Differential gene expression in cholesteatoma by DNA chip analysis. (23670528)
2013
4
Congenital middle ear cholesteatoma: experience from 26 surgical cases. (23815048)
2013
5
Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report. (22731118)
2012
6
Petrous bone cholesteatoma removed by trans-superior semicircular canal approach: long-term hearing results in three cases. (22770523)
2012
7
HASTE diffusion-weighted MRI for the reliable detection of cholesteatoma. (21960134)
2012
8
How long is long enough to follow up children after cholesteatoma surgery? A 29-year study. (23108885)
2012
9
Ossicular erosion in patients requiring surgery for cholesteatoma. (24303397)
2012
10
Cholesteatoma growth and proliferation: relevance with serpin B3. (23239141)
2012
11
Staging primary middle ear cholesteatoma with non-echoplanar (half-Fourier-acquisition single-shot turbo-spin-echo) diffusion-weighted magnetic resonance imaging helps plan surgery in 22 patients: our experience. (22925100)
2012
12
The pathogenesis of acquired cholesteatoma of the human middle ear: support for the migration hypothesis. (22143292)
2012
13
Chronic suppurative otitis media in Nepal: ethnicity does not determine whether disease is associated with cholesteatoma or not. (20875194)
2011
14
Acquired cholesteatoma: classification and outcomes. (21725267)
2011
15
Structural tympanic membrane changes in secretory otitis media and cholesteatoma. (21765386)
2011
16
Petrous bone cholesteatoma: classification, management and review of the literature. (20668373)
2011
17
Transcanal endoscopic management of cholesteatoma. (20418796)
2010
18
Congenital middle ear cholesteatoma. (21086268)
2010
19
Mastoid subperiosteal abscess as a first sign of unnoticed cholesteatoma in children. (19814752)
2010
20
Tympanic membrane cholesteatoma: a rare finding. (20718191)
2010
21
External auditory canal cholesteatoma: a rare complication of tympanoplasty. (19924662)
2009
22
Expression of epidermal growth factor receptor Ki67 and p16 in human middle ear cholesteatoma]. (19157151)
2008
23
Differentiation between cholesteatoma and inflammatory process of the middle ear, based on contrast-enhanced computed tomography imaging. (18419858)
2008
24
Cartilage-wire-fascia compact total ossicular replacement prosthesis in one-stage cholesteatoma surgery. (19144300)
2008
25
Residual cholesteatoma: incidence and localization in canal wall down tympanoplasty with soft-wall reconstruction. (18559735)
2008
26
Intracranial reparative giant cell granuloma secondary to cholesteatoma in a 15-year-old girl. (19131785)
2008
27
Endoscope-assisted surgery via the middle cranial fossa approach for a petrous cholesteatoma. (18226484)
2008
28
Giant Cholesteatoma: Recommendations for Follow-up. (19240835)
2008
29
Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma. (17419529)
2007
30
Applicability of autologous incus: the influence of age and localization of cholesteatoma. (17415579)
2007
31
Expression patterns of Ki-67 and telomerase activity in middle ear cholesteatoma. (17255888)
2007
32
Mucosubstance histochemistry and pathogenesis of acquired cholesteatoma. (17287952)
2007
33
A new case of synchronous primary external ear canal cholesteatoma. (16730556)
2006
34
The pathophysiology of cholesteatoma. (17097438)
2006
35
Cholesteatoma, cerebrospinal fluid leakage, and chronic otitis media. (16988616)
2006
36
Influence of hepatocyte growth factor/scatter factor (HGF/SF) on fibroblast growth factor-2 (FGF-2) levels in external auditory canal cholesteatoma (EACC) cell culture. (15875782)
2005
37
Expression and significance of TERT and c-Myc oncogene protein product on cholesteatoma epithelium]. (16001896)
2005
38
The expressions and correlations of RAR-beta receptors and galectin-8 in human middle ear cholesteatoma]. (15499989)
2004
39
Expression of transforming growth factor-beta 1 matrix metalloproteinase-1 and its inhibitor in human middle ear cholesteatoma]. (12768723)
2002
40
Advantages of endoscopically assisted surgery for attic cholesteatoma. (18493554)
2001
41
Hearing results after tympanoplasty in elderly patients with middle ear cholesteatoma. (11813895)
2001
42
Signal transduction pathway in human middle ear cholesteatoma. (10352447)
1999
43
Evaluation of proliferative activity in middle ear cholesteatoma using proliferating cell nuclear antigen. (10518363)
1999
44
Roles of cytokines and cell cycle regulating substances in proliferation of cholesteatoma epithelium. (10401849)
1999
45
A study on epidermal proliferation ability in cholesteatoma. (9546266)
1998
46
Clinical and biochemical studies of bone destruction in cholesteatoma. (8763371)
1996
47
Chronic suppurative otitis media without cholesteatoma management. (8630764)
1995
48
Immunohistochemical analysis of the cytokeratin expression in middle ear cholesteatoma and related epithelial tissues. (1280020)
1992
49
Tumor necrosis factor alpha in middle ear cholesteatoma and its effect on keratinocytes in vitro. (1671546)
1991
50
Third place--Resident Basic Science Award 1990. Interleukin 1 causing bone destruction in middle ear cholesteatoma. (2174138)
1990

Variations for Cholesteatoma

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Expression for genes affiliated with Cholesteatoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholesteatoma

Search GEO for disease gene expression data for Cholesteatoma.

Pathways for genes affiliated with Cholesteatoma

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50PathCards, 60Thomson Reuters, 55Reactome
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Pathways related to Cholesteatoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8IL1A, TNFSF11
29.7KRT13, KRT16
3
Show member pathways
9.7DEFB1, DEFB4A

Compounds for genes affiliated with Cholesteatoma

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Sources:
45Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR, 3BitterDB
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Compounds related to Cholesteatoma according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1helenalin4510.1DEFB4A, MMP9
2dnfb4510.1CHKB, IL1A
3hbd24510.0DEFB4A, DEFB1
47,12-dimethylbenz(a)anthracene459.9KRT13, CHKB
5ns 39845 6110.9MMP9, TNFSF11, IL1A
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.9MMP9, IL1A, TNFSF11
7minocycline45 1110.8MMP9, IL1A
8sp 60012545 6110.8DEFB4A, TNFSF11, MMP9
9procollagen459.8TNFSF11, MMP9, IL1A
10naproxen45 24 1111.8IL1A, CHKB
11polymyxin b459.7TNFSF11, DEFB1, IL1A
12fluvastatin45 51 29 1112.7IL1A, CHKB, MMP9
13prostaglandin459.7TNFSF11, MMP9, IL1A
14geranylgeranyl pyrophosphate459.7TNFSF11, MMP9
15ciprofloxacin45 51 1111.6DEFB1, IL1A
16endotoxin459.6IL1A, CHKB, DEFB4A
17sb 20358045 6110.6TNFSF11, DEFB4A, IL1A, MMP9
18simvastatin45 51 61 29 24 1114.6MMP9, IL1A, CHKB
19genistein45 29 61 3 24 1114.5DEFB4A, MMP9, TNFSF11, IL1A
20isotretinoin45 1110.5KRT16, CHKB, KRT10
21vitamin a45 24 1111.4IL1A, KRT16, MMP9
221,25 dihydroxy vitamin d3459.4KRT16, TNFSF11, IL1A, KRT10
23heparin45 29 24 1112.3CHKB, IL1A, DEFB4A, TNFSF11
24proline459.3KRT13, KRT10, KRT16, MMP9
25nacl459.3DEFB1, DEFB4A, CHKB
26cyclosporin a45 29 6111.3MMP9, TNFSF11, IL1A, CHKB
27hematoxylin459.3FLG, MMP9, KRT10
28pge2459.2MMP9, TNFSF11, IL1A, CHKB
29methotrexate51 45 1111.2MMP9, CHKB, TNFSF11
30creatinine459.2MMP9, TNFSF11, IL1A, CHKB
31dithranol459.2FLG, KRT16, KRT10
32nicotine45 29 51 1112.2FLG, MMP9, IL1A
33latex459.1CHKB, FLG, TNFSF11
34urea45 24 1111.1CHKB, FLG, TNFSF11
35testosterone45 61 24 1112.1TNFSF11, CHKB, IL1A, MMP9
36rantes459.1MMP9, IL1A, DEFB4A, TNFSF11, DEFB1
37vitamin d459.0CHKB, IL1A, KRT10, TNFSF11, KRT13
38calcipotriol45 61 29 1111.9FLG, IL1A, KRT16, KRT10
39estrogen458.9CHKB, DEFB4A, KRT10, MMP9, TNFSF11
40ascorbic acid45 249.9CHKB, FLG, TNFSF11, IL1A
41calcitriol45 61 24 1111.6TNFSF11, IL1A, KRT16, KRT10, FLG
42retinoid458.5KRT10, FLG, KRT16
43cysteine458.5FLG, MMP9, DEFB4A, CHKB, TNFSF11
44nitric oxide45 24 1110.4KRT16, IL1A, CHKB, FLG, TNFSF11
45paraffin458.2KRT13, CHKB, KRT10, TNFSF11, DEFB4A, MMP9
46dexamethasone45 51 29 1111.1MMP9, CHKB, DEFB1, IL1A, DEFB4A, TNFSF11
47serine458.1FLG, KRT10, IL1A, MMP9, TNFSF11, KRT16
48steroid458.1KRT16, KRT10, CHKB, FLG, TNFSF11, DEFB4A
49calcium45 51 24 1110.8DEFB4A, TNFSF11, KRT10, MMP9, CHKB, FLG
50retinoic acid45 248.4KRT10, IL1A, KRT13, MMP9, FLG, DEFB1

GO Terms for genes affiliated with Cholesteatoma

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16Gene Ontology
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Cellular components related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.7FLG, KRT10, KRT16
2extracellular regionGO:0055768.6DEFB4A, DEFB1, TNFSF11, MMP9, IL1A
3extracellular spaceGO:0056158.1TNFSF11, MMP9, LGALS8, IL1A, KRT10

Biological processes related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:0302169.2KRT10, FLG
2immune responseGO:0069558.7IL1A, TNFSF11, DEFB1, DEFB4A

Products for genes affiliated with Cholesteatoma

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Sources for Cholesteatoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet