MCID: CHL069
MIFTS: 54

Cholesteatoma malady

Rare diseases, Skin diseases, Ear diseases categories

Summaries for Cholesteatoma

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NIH Rare Diseases:42 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 based summary: 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:64 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Aliases & Classifications for Cholesteatoma

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Cholesteatoma, Aliases & Descriptions:

Name: Cholesteatoma 9 42 11 44 61
Secondary Acquired Cholesteatoma 42
 
Primary Acquired Cholesteatoma 42
Congenital Cholesteatoma 42


Classifications:

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


External Ids:

Disease Ontology9 DOID:869
ICD9CM28 385.30
MeSH34 D002781
NCIt39 C2944

Related Diseases for Cholesteatoma

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1middle ear cholesteatoma31.3DEFB4A, KRT13, IL1A, CHKB, MMP9, TNFSF11
2keratosis30.1KRT16, KRT10, FLG
3congenital ichthyosiform erythroderma30.0KRT10, FLG
4otitis media10.8
5suppurative otitis media10.6
6periodontal disease10.5TNFSF11
7oral candidiasis10.5DEFB4A
8candidiasis10.5DEFB4A
9periapical granuloma10.5TNFSF11
10irritant dermatitis10.5KRT16
11pachyonychia congenita10.4KRT16
12cardiac rupture10.4CHKB
13synovitis10.4IL1A, TNFSF11
14periodontitis10.4IL1A, MMP9
15arthritis10.3TNFSF11, IL1A
16gingivitis10.3IL1A, TNFSF11
17psoriatic arthritis10.3IL1A, TNFSF11
18tonsillitis10.3DEFB4A, DEFB1
19giant cell tumor10.3TNFSF11, MMP9
20contact dermatitis10.3FLG
21bone cancer10.3MMP9, TNFSF11
22idiopathic myopathy10.3CHKB, IL1A
23duodenal ulcer10.3DEFB4A, DEFB1
24steatocystoma multiplex10.3KRT16, KRT10
25skin disease10.3IL1A, MMP9
26cholesteatoma of external ear10.3
27labyrinthitis10.3
28palmoplantar keratosis10.3KRT16, KRT10
29tympanosclerosis10.2
30maxillary sinus cholesteatoma10.2
31cholesteatoma of attic10.2
32facial paralysis10.2
33congenital aural atresia10.2
34dermatomyositis10.2CHKB, IL1A
35polymyositis10.2IL1A, CHKB
36cleft palate10.2
37meningitis10.2
38sarcoidosis10.2IL1A, DEFB1, DEFB4A
39hypercalcemia10.1TNFSF11, IL1A
40epidermolytic hyperkeratosis10.1FLG, KRT10
41cork-handlers' disease10.1DEFB4A, DEFB1, MMP9
42cystic fibrosis10.1DEFB4A, DEFB1, KRT13
43sepsis10.1IL1A, DEFB1, DEFB4A
44ichthyosis lamellar 110.1FLG, KRT10
45acute myocardial infarction10.1TNFSF11, MMP9, CHKB
46osteosarcoma10.1IL1A, MMP9, TNFSF11
47atopic dermatitis10.1FLG, DEFB4A
48osteoarthritis10.1DEFB4A, TNFSF11, MMP9, IL1A
49coronary artery anomaly10.1TNFSF11, MMP9, CHKB
50sensorineural hearing loss10.1

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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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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MalaCards organs/tissues related to Cholesteatoma:

32
Bone, Skin, Brain, Endothelial, Placenta, Monocytes, Temporal lobe, Neutrophil

Animal Models for Cholesteatoma or affiliated genes

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MGI Mouse Phenotypes related to Cholesteatoma:

36
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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Articles related to Cholesteatoma:

(show top 50)    (show all 762)
idTitleAuthorsYear
1
Acquired middle ear cholesteatoma in children with cleft palate: experience from 18 surgical cases. (24690221)
2014
2
Activation of the IL-6/JAK/STAT3 signaling pathway in human middle ear cholesteatoma epithelium. (24551293)
2014
3
Health-related quality of life measurement after cholesteatoma surgery: comparison of three different surgical techniques. (25359196)
2014
4
Recurrent aseptic meningitis as a rare but important presentation of congenital petrous apex cholesteatoma: the value of appropriate imaging. (24614768)
2014
5
Middle Ear Cholesteatoma Treated with a Mastoidectomy: A Systematic Review of the Measures Used. (25193517)
2014
6
Congenital cholesteatoma in identical twins. (23217274)
2013
7
Letter to the Editor regarding 'Pie-slice tympanoplasty for transcanal removal of small congenital cholesteatoma'. (23415070)
2013
8
Differential gene expression in cholesteatoma by DNA chip analysis. (23670528)
2013
9
Congenital middle ear cholesteatoma: experience from 26 surgical cases. (23815048)
2013
10
Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report. (22731118)
2012
11
Petrous bone cholesteatoma removed by trans-superior semicircular canal approach: long-term hearing results in three cases. (22770523)
2012
12
HASTE diffusion-weighted MRI for the reliable detection of cholesteatoma. (21960134)
2012
13
How long is long enough to follow up children after cholesteatoma surgery? A 29-year study. (23108885)
2012
14
Ossicular erosion in patients requiring surgery for cholesteatoma. (24303397)
2012
15
Cholesteatoma growth and proliferation: relevance with serpin B3. (23239141)
2012
16
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
17
Chronic suppurative otitis media in Nepal: ethnicity does not determine whether disease is associated with cholesteatoma or not. (20875194)
2011
18
Acquired cholesteatoma: classification and outcomes. (21725267)
2011
19
Structural tympanic membrane changes in secretory otitis media and cholesteatoma. (21765386)
2011
20
Petrous bone cholesteatoma: classification, management and review of the literature. (20668373)
2011
21
Transcanal endoscopic management of cholesteatoma. (20418796)
2010
22
Congenital middle ear cholesteatoma. (21086268)
2010
23
Osteoplastic atticoantrotomy with autologous bone chips and a bony attic strut in cholesteatoma surgery. (19953260)
2010
24
Mastoid subperiosteal abscess as a first sign of unnoticed cholesteatoma in children. (19814752)
2010
25
Tympanic membrane cholesteatoma: a rare finding. (20718191)
2010
26
External auditory canal cholesteatoma: a rare complication of tympanoplasty. (19924662)
2009
27
Expression of epidermal growth factor receptor Ki67 and p16 in human middle ear cholesteatoma]. (19157151)
2008
28
Differentiation between cholesteatoma and inflammatory process of the middle ear, based on contrast-enhanced computed tomography imaging. (18419858)
2008
29
Cartilage-wire-fascia compact total ossicular replacement prosthesis in one-stage cholesteatoma surgery. (19144300)
2008
30
Residual cholesteatoma: incidence and localization in canal wall down tympanoplasty with soft-wall reconstruction. (18559735)
2008
31
Intracranial reparative giant cell granuloma secondary to cholesteatoma in a 15-year-old girl. (19131785)
2008
32
Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma. (17419529)
2007
33
Applicability of autologous incus: the influence of age and localization of cholesteatoma. (17415579)
2007
34
Mucosubstance histochemistry and pathogenesis of acquired cholesteatoma. (17287952)
2007
35
A new case of synchronous primary external ear canal cholesteatoma. (16730556)
2006
36
The pathophysiology of cholesteatoma. (17097438)
2006
37
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
38
Expression and significance of TERT and c-Myc oncogene protein product on cholesteatoma epithelium]. (16001896)
2005
39
The expressions and correlations of RAR-beta receptors and galectin-8 in human middle ear cholesteatoma]. (15499989)
2004
40
Expression of transforming growth factor-beta 1 matrix metalloproteinase-1 and its inhibitor in human middle ear cholesteatoma]. (12768723)
2002
41
Advantages of endoscopically assisted surgery for attic cholesteatoma. (18493554)
2001
42
Hearing results after tympanoplasty in elderly patients with middle ear cholesteatoma. (11813895)
2001
43
Signal transduction pathway in human middle ear cholesteatoma. (10352447)
1999
44
Evaluation of proliferative activity in middle ear cholesteatoma using proliferating cell nuclear antigen. (10518363)
1999
45
Roles of cytokines and cell cycle regulating substances in proliferation of cholesteatoma epithelium. (10401849)
1999
46
A study on epidermal proliferation ability in cholesteatoma. (9546266)
1998
47
Clinical and biochemical studies of bone destruction in cholesteatoma. (8763371)
1996
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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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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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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Compounds related to Cholesteatoma according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1helenalin4410.1DEFB4A, MMP9
2dnfb4410.1CHKB, IL1A
3hbd24410.0DEFB4A, DEFB1
47,12-dimethylbenz(a)anthracene449.9KRT13, CHKB
5ns 39844 6010.9MMP9, TNFSF11, IL1A
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.9MMP9, IL1A, TNFSF11
7minocycline44 1210.8MMP9, IL1A
8sp 60012544 6010.8DEFB4A, TNFSF11, MMP9
9procollagen449.8TNFSF11, MMP9, IL1A
10naproxen44 25 1211.8IL1A, CHKB
11polymyxin b449.7TNFSF11, DEFB1, IL1A
12fluvastatin44 50 29 1212.7IL1A, CHKB, MMP9
13prostaglandin449.7TNFSF11, MMP9, IL1A
14geranylgeranyl pyrophosphate449.7TNFSF11, MMP9
15ciprofloxacin44 50 1211.6DEFB1, IL1A
16endotoxin449.6IL1A, CHKB, DEFB4A
17sb 20358044 6010.6TNFSF11, DEFB4A, IL1A, MMP9
18simvastatin44 50 60 29 25 1214.6MMP9, IL1A, CHKB
19genistein44 29 60 3 25 1214.5DEFB4A, MMP9, TNFSF11, IL1A
20isotretinoin44 1210.5KRT16, CHKB, KRT10
21vitamin a44 25 1211.4IL1A, KRT16, MMP9
221,25 dihydroxy vitamin d3449.4KRT16, TNFSF11, IL1A, KRT10
23heparin44 29 25 1212.3CHKB, IL1A, DEFB4A, TNFSF11
24proline449.3KRT13, KRT10, KRT16, MMP9
25nacl449.3DEFB1, DEFB4A, CHKB
26cyclosporin a44 29 6011.3MMP9, TNFSF11, IL1A, CHKB
27hematoxylin449.3FLG, MMP9, KRT10
28pge2449.2MMP9, TNFSF11, IL1A, CHKB
29methotrexate50 44 1211.2MMP9, CHKB, TNFSF11
30creatinine449.2MMP9, TNFSF11, IL1A, CHKB
31dithranol449.2FLG, KRT16, KRT10
32nicotine44 29 50 1212.2FLG, MMP9, IL1A
33latex449.1CHKB, FLG, TNFSF11
34urea44 25 1211.1CHKB, FLG, TNFSF11
35testosterone44 60 25 1212.1TNFSF11, CHKB, IL1A, MMP9
36rantes449.1MMP9, IL1A, DEFB4A, TNFSF11, DEFB1
37vitamin d449.0CHKB, IL1A, KRT10, TNFSF11, KRT13
38calcipotriol44 60 29 1211.9FLG, IL1A, KRT16, KRT10
39estrogen448.9CHKB, DEFB4A, KRT10, MMP9, TNFSF11
40ascorbic acid44 259.9CHKB, FLG, TNFSF11, IL1A
41calcitriol44 60 25 1211.6TNFSF11, IL1A, KRT16, KRT10, FLG
42retinoid448.5KRT10, FLG, KRT16
43cysteine448.5FLG, MMP9, DEFB4A, CHKB, TNFSF11
44nitric oxide44 25 1210.4KRT16, IL1A, CHKB, FLG, TNFSF11
45paraffin448.2KRT13, CHKB, KRT10, TNFSF11, DEFB4A, MMP9
46dexamethasone44 50 29 1211.1MMP9, CHKB, DEFB1, IL1A, DEFB4A, TNFSF11
47serine448.1FLG, KRT10, IL1A, MMP9, TNFSF11, KRT16
48steroid448.1KRT16, KRT10, CHKB, FLG, TNFSF11, DEFB4A
49calcium44 50 25 1210.8DEFB4A, TNFSF11, KRT10, MMP9, CHKB, FLG
50retinoic acid44 258.4KRT10, IL1A, KRT13, MMP9, FLG, DEFB1

GO Terms for genes affiliated with Cholesteatoma

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Cellular components related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.7KRT16, KRT10, FLG
2extracellular regionGO:0055768.6IL1A, MMP9, TNFSF11, DEFB1, DEFB4A
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
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24HGMD
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26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
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44Novoseek
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47OMIM via Orphanet
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52QIAGEN
57SNOMED-CT via Orphanet
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62UMLS via Orphanet