MCID: CHL069
MIFTS: 52

Cholesteatoma malady

Summaries for Cholesteatoma

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 cleft palate. An important gene associated with Cholesteatoma is DEFB4A (defensin, beta 4A), and among its related pathways are Rheumatoid arthritis and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds estrogen and pge2 have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and integument.

Wikipedia:64 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Aliases & Classifications for Cholesteatoma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

cholesteatoma 8 43 10 45 61
secondary acquired cholesteatoma 43
primary acquired cholesteatoma 43
cholesteatoma, unspecified 8
congenital cholesteatoma 43


External Ids:

Disease Ontology8 DOID:869
ICD9CM27 385.30
NCIt40 C2944
MeSH35 D002781

Related Diseases for Cholesteatoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1middle ear cholesteatoma30.7S100A8, TGFA, KRT13, TNFSF11, IVL, DEFB4A
2cleft palate30.2FGFR2, TGFA
3squamous cell carcinoma30.1LGALS1, LGALS8, TGFA
4congenital ichthyosiform erythroderma29.8FLG, IVL, KRT10
5suppurative otitis media10.6
6maxillary sinus cholesteatoma10.3
7tympanosclerosis10.2
8congenital aural atresia10.2
9cholesteatoma of external ear10.2
10cholesteatoma of attic10.1
11intracranial abscess10.1
12sensorineural hearing loss10.1
13purulent labyrinthitis10.1
14lateral sinus thrombosis10.1
15fibrous dysplasia10.1
16n syndrome10.1
17microtia10.1
18hypoxia10.1
19skin disease10.0IL1A, MMP9
20leukoplakia10.0KRT13, DEFB4A, IVL, FLG
21lichen planus10.0FLG, IVL, DEFB4A, KRT16, KRT13, KRT10
22psoriasis10.0S100A8, FLG, IVL, DEFB4A, FGF7, IL1A
23keratoacanthoma10.0IVL, KRT10
24esophagitis10.0S100A8
25periodontitis10.0TNFRSF11B, IL1A, MMP9
26duodenal ulcer10.0S100A8, DEFB1, DEFB4A
27periodontal disease10.0MMP1, TNFSF11
28dermatitis10.0FLG, IVL, IL1A, KRT16
29gingivitis10.0TNFSF11, TNFRSF11B, IL1A, MMP1
30nonepidermolytic palmoplantar keratoderma10.0TGFA, KRT10, KRT16, DEFB4A, FLG
31sarcoma10.0FGF7, LGALS1
32primary hyperoxaluria10.0TNFRSF11B
33cystic fibrosis10.0S100A8, TNFRSF11B, DEFB1, DEFB4A, FGF7, KRT13
34adenocarcinoma10.0S100A8, TNFSF11, IVL, FGFR2, FGF7, MMP9
35duodenitis10.0S100A8
36adenoma10.0TGFA, LGALS1, KRT13, S100A8
37epidermolysis bullosa10.0FLG
38pneumonia10.0FGF7, DEFB4A, DEFB1, S100A8
39asthma10.0S100A8, FLG, DEFB1, DEFB4A, CHKB, MMP9
40bowen syndrome10.0KRT10, KRT16, IVL, FLG
41synovitis10.0TNFSF11, TNFRSF11B, IL1A, MMP1
42keratosis10.0FLG, IVL, KRT16, KRT10
43hepatocellular carcinoma10.0S100A8, TNFSF11, FGFR2, FGF2, MMP9, KRT13
44clear cell acanthoma10.0IVL
45keratitis10.0FGF2, MMP9
46peptic ulcer10.0S100A8
47gastric ulcer10.0S100A8, FGF7, FGF2
48ulcerative colitis10.0TNFSF11, DEFB1, DEFB4A, CHKB, FGF7, IL1A
49oral cancer10.0IVL, MMP1, MMP9, KRT13
50acute myocardial infarction10.0TNFSF11, CHKB, MMP9

Graphical network of the top 20 diseases related to Cholesteatoma:



Diseases related to cholesteatoma

Clinical Features for Cholesteatoma

Drugs & Therapeutics for Cholesteatoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cholesteatoma

Drug clinical trials:

Search ClinicalTrials for Cholesteatoma

Search NIH Clinical Center for Cholesteatoma

Search CenterWatch for Cholesteatoma

Genetic Tests for Cholesteatoma

Anatomical Context for Cholesteatoma

Animal Models for Cholesteatoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Cholesteatoma

Sources:
51PubMed
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Articles related to Cholesteatoma:

(show top 50)    (show all 743)
idTitleAuthorsYear
1
Cholesteatoma surgery in children: long-term results of the inside-out technique. (23566425)
2013
2
Apparent diffusion coefficients for detection of postoperative middle ear cholesteatoma on non-echo-planar diffusion-weighted images. (23801772)
2013
3
The value of magnetic resonance imaging in the preoperative evaluation and the postoperative follow-up of middle ear cholesteatoma. (23847838)
2013
4
Mastoid cholesteatoma: a result of metaplasia. (24427736)
2013
5
A giant mastoid cholesteatoma with posterior cranial extension causing mass effect and obstructive hydrocephalus. (23791432)
2013
6
Laterality of acquired cholesteatoma and handedness. (22722147)
2012
7
Cholesteatoma surgery in children: 10-year retrospective review. (22310087)
2012
8
Congenital cholesteatoma: predictors for residual disease and hearing outcomes. (22431873)
2012
9
Posttraumatic cholesteatoma complicated by a facial paralysis: a case report. (22953104)
2012
10
Can long-term hearing preservation be expected in children following cholesteatoma surgery? Results from a 14-year-long study of atticotomy-limited mastoidectomy with cartilage reconstruction. (22948389)
2012
11
Petrous bone cholesteatoma: classification, management and review of the literature. (20668373)
2011
12
Usefulness of computed tomography Hounsfield unit density in preoperative detection of cholesteatoma in mastoid ad antrum. (20434800)
2011
13
Hearing and ossicular chain preservation in cholesteatoma surgery. (20950509)
2011
14
Cholesteatoma in patients with congenital external auditory canal anomalies: retrospective review. (21846418)
2011
15
Subarcuate supralabyrinthine approach for supralabyrinthine petrosal cholesteatoma. (20128186)
2010
16
Factors associated with developing cholesteatoma: a study of 45,980 children with middle ear disease. (20058316)
2010
17
Expression of CYLD and NF-kappaB in human cholesteatoma epithelium. (20414373)
2010
18
Canal wall cholesteatoma following canalplasty. (19222877)
2009
19
Eustachian tube function and habitual sniffing in middle ear cholesteatoma. (18957901)
2009
20
Quality of life in children with chronic suppurative otitis media with or without cholesteatoma. (19108902)
2009
21
Primary cholesteatoma of petrous bone presenting as cervical fistula. (19167849)
2009
22
Cholesteatoma behind an intact tympanic membrane in adult life: congenital or acquired? (19192317)
2009
23
Giant Cholesteatoma: Recommendations for Follow-up. (19240835)
2008
24
The value of magnetic resonance imaging in the diagnosis of residual or recurrent acquired cholesteatoma after canal wall-up tympanoplasty. (18199952)
2008
25
External auditory canal cholesteatoma: reassessment of and amendments to its categorization, pathogenesis, and treatment in 34 patients. (18758389)
2008
26
Cholesteatoma of the maxillary sinus. (17703815)
2007
27
First report of congenital cholesteatoma in an Indigenous Australian child. (17501898)
2007
28
The pathophysiology of cholesteatoma. (17097438)
2006
29
Congenital cholesteatoma in a case of congenital aural atresia. (17006343)
2006
30
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
31
Angiogenic factors in external auditory canal cholesteatoma-fibroblast cell culture]. (15870993)
2005
32
Efficacy of the KTP laser in the treatment of middle ear cholesteatoma. (15793394)
2005
33
Advantages of endoscopically assisted surgery for attic cholesteatoma. (18493554)
2001
34
The clinical evaluations of pathophysiology for congenital middle ear cholesteatoma. (11351288)
2001
35
A study on expression of tumor necrosis factor alpha in middle ear cholesteatoma and its effect on bone destruction]. (12541866)
2001
36
Signal transduction pathway in human middle ear cholesteatoma. (10352447)
1999
37
Different production of interleukin-1alpha, interleukin-1beta and interleukin-8 from cholesteatomatous and normal epithelium. (9655214)
1998
38
Matrix metalloproteinase-1 in cholesteatoma, middle ear granulations and deep meatal skin: a comparative analysis. (9884804)
1998
39
Argyrophilic nucleolar organizer regions in auditory meatal skin and middle ear cholesteatoma. (9466068)
1997
40
Keratinocyte growth factor and receptor mRNA expression in cholesteatoma of the middle ear. (9349868)
1997
41
Involvement of interleukin-1 in middle ear cholesteatoma. (7503375)
1995
42
Proliferation behavior of cholesteatoma]. (8582830)
1995
43
Expression of cytokeratins 13 and 16 in middle ear cholesteatoma. (7510866)
1994
44
Autocrine growth mechanisms of cholesteatoma epithelium]. (8369082)
1993
45
Inflammatory middle ear disease of the dog: the clinical and pathological features of cholesteatoma, a complication of otitis media. (2063523)
1991
46
Middle ear cholesteatoma extending into the petrous apex: evaluation by CT and MR imaging. (1882752)
1991
47
Third place--Resident Basic Science Award 1990. Interleukin 1 causing bone destruction in middle ear cholesteatoma. (2174138)
1990
48
Localization of fibronectin in human middle ear cholesteatoma. (3052388)
1988
49
Preservation of cochlear function in the surgery of cholesteatomatous labyrinthine fistulas and oval window tympanosclerosis. (3120083)
1987
50
Why does middle ear cholesteatoma recur? (6870643)
1983

Genetic Variations for Cholesteatoma

Expression for genes affiliated with Cholesteatoma

Sources:
1BioGPS, 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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 54Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Cholesteatoma according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5TNFSF11
2
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.5IL1A, TNFRSF11B, TNFSF11
310.5TNFSF11, TNFRSF11B
4
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10.5IL1A, FGFR2
510.5MMP9, FGFR2, FGF2
610.5IVL, MMP1, MMP9
7
Hide members
10.5FGFR2, FGF7, IL1A
8
Hide members
10.5IL1A, FGF7, FGFR2, DEFB4A, DEFB1, FGF2
910.5TGFA, FGF2, FGFR2, MMP9
10
Hide members
10.5MMP9, FGF2, FGF7, FGFR2
11
Hide members
10.4FGFR2, FGF7, FGF2
12
Hide members
10.4FGFR2, FGF2, FGF7
13
Hide members
10.4TNFSF11, FGFR2, FGF7, FGF2, IL1A, TGFA
14
Hide members
10.4TNFSF11, FGFR2, FGF7, FGF2, IL1A, TGFA
15
Hide members
10.4FGF7, FGFR2, FGF2, IL1A, TGFA
1610.4MMP1, MMP9, FGF7, TGFA, FGFR2, FGF2
17
Hide members
10.4FGF2, FGFR2, TGFA, FGF7, MMP9, MMP1
18
Hide members
10.4FGF7, FGFR2, MMP1, FGF2, MMP9, TGFA

Compounds for genes affiliated with Cholesteatoma

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Cholesteatoma according to GeneCards/GeneDecks:

(show top 50)    (show all 153)
idCompoundScoreTop Affiliating Genes
1estrogen4510.9IVL, CHKB, DEFB4A
2pge24510.9MMP9
3dexamethasone45 50 29 1113.9DEFB4A, FGF2, MMP9, LGALS1, TNFRSF11B, DEFB1
4rantes4510.9FGF7, DEFB4A, S100A8, IL1A
5vitamin d4510.9TNFSF11, FGFR2, IVL, CHKB, TGFA, FGF7
6calcitriol45 60 11 2413.9KRT10, KRT16, MMP1, IL1A, FGF2, IVL
7paraffin4510.9TGFA, S100A8, TNFSF11, IVL, DEFB4A, CHKB
8ns 39845 6011.9MMP9, FGF2, IL1A, MMP1, TNFRSF11B, TNFSF11
9genistein45 29 60 2 11 2415.9DEFB4A, FGFR2, FGF7, FGF2, IL1A, MMP1
10serine4510.9S100A8, TNFSF11, FGF2, TNFRSF11B, FLG, IVL
11dithranol4510.9FLG, KRT10, KRT16, IVL, TGFA
12heparin45 29 11 2413.9LGALS1, IL1A, FGF7, TNFSF11, TNFRSF11B, DEFB4A
13retinoic acid45 2411.9S100A8, TNFRSF11B, FLG, FGF2, IVL, DEFB1
14steroid4510.9FLG, TNFSF11, TGFA, KRT10, FGF7, FGFR2
15cyclosporin a45 29 6012.9FGF2, TNFRSF11B, IVL, CHKB, TGFA, FGF7
161,25 dihydroxy vitamin d34510.8TNFSF11, FGF7, KRT10, KRT16, IVL, TNFRSF11B
17cysteine4510.8TNFSF11, TGFA, MMP9, MMP1, FLG, FGF7
18heparan sulfate45 2411.8TNFSF11, TNFRSF11B, IVL, DEFB1, FGFR2, FGF2
19calcipotriol45 60 29 1113.8KRT10, FLG, IVL, IL1A, KRT16
20pd 98,0594510.8FGF2, IVL, TGFA, TNFSF11, MMP9, MMP1
21methotrexate45 50 1112.8TGFA, S100A8, TNFRSF11B, IVL, CHKB, MMP1
22sb 20358045 6011.8TNFSF11, IL1A, MMP9, TNFRSF11B, MMP1, FGF2
23ascorbic acid45 2411.8IL1A, TNFRSF11B, FLG, FGF2, TGFA, TNFSF11
24vegf4510.8FGF2, IL1A, TGFA, IVL, TNFRSF11B, TNFSF11
25procollagen4510.8TNFSF11
26hydrocortisone45 2 60 1113.8MMP1, IVL, TNFRSF11B, TGFA, FGF7, IL1A
27bromodeoxyuridine4510.8TGFA, KRT10, FGF2, FGF7, FGFR2, IVL
28celecoxib45 60 29 50 11 2415.8FGF7, TNFRSF11B, FGF2, MMP1, MMP9, TNFSF11
29calcium45 50 11 2413.8CHKB, S100A8, TNFSF11, TNFRSF11B, FLG, IVL
30glycosaminoglycan4510.8IL1A, MMP9, FGF2, FGF7, MMP1, FGFR2
31tyrosine4510.8FGF7, FGFR2, S100A8, TNFSF11, DEFB4A, IVL
32testosterone45 60 11 2413.8TNFSF11, TGFA, MMP1, MMP9, TNFRSF11B, IL1A
33agar4510.7LGALS1, TGFA, FGF2, FGF7, FGFR2, CHKB
34retinoid4510.7IVL, MMP1, LGALS1, S100A8, KRT10, KRT16
35gf 109203x45 6011.7IVL, FGF2, FLG, MMP1, KRT10, TGFA
36urea45 11 2412.7CHKB, FLG, S100A8, TNFRSF11B, TNFSF11, IVL
37infliximab45 50 1112.7MMP1, FGF2, FLG, TNFRSF11B, TNFSF11
3812-o-tetradecanoylphorbol 13-acetate4510.7MMP1, FGFR2, IVL, TGFA, MMP9, IL1A
39creatinine4510.7TNFSF11, MMP9, MMP1, IL1A, CHKB, TNFRSF11B
40polysaccharide4510.7IVL, LGALS1, TGFA, FGFR2, CHKB, FGF2
41tgf beta14510.7FGF2, MMP1, TNFRSF11B, FGF7, TGFA, MMP9
42nitric oxide45 11 2412.6KRT16, TNFRSF11B, IL1A, CHKB, S100A8, FLG
43phosphatidylinositol4510.6TNFSF11, TGFA, LGALS8, MMP9, FGF7, FGF2
44doxycycline45 1111.6MMP1, TNFSF11, FGF7
45rapamycin4510.5MMP1, TNFSF11, FGF7, IL1A, LGALS1, TGFA
46cycloheximide4510.5FGF7
47hematoxylin4510.5KRT10, MMP1, IVL
48progesterone45 60 29 11 2414.4FGF7, FGFR2, TNFRSF11B, TGFA, KRT10, MMP1
49nicotine45 50 29 1113.4MMP1, MMP9, IL1A, FGF2, IVL, FLG
50prostaglandin4510.2TNFRSF11B, IL1A, MMP1, TNFSF11, MMP9, TGFA

GO Terms for genes affiliated with Cholesteatoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.5KRT10, KRT16, FLG
2extracellular regionGO:00557610.4MMP9, S100A8, TNFSF11, TNFRSF11B, DEFB1, DEFB4A
3extracellular spaceGO:00561510.3MMP9, LGALS1, LGALS8, TGFA, FGF2, TNFRSF11B
4proteinaceous extracellular matrixGO:00557810.2TNFRSF11B, MMP1, MMP9, LGALS1

Biological processes related to Cholesteatoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1plasma cell differentiationGO:00231710.7LGALS8, LGALS1
2positive regulation of cell divisionGO:05178110.7IL1A, FGF7, TGFA, FGFR2, FGF2
3innate immune responseGO:04508710.7DEFB1, FGF2, S100A8, DEFB4A, FGFR2, FGF7
4positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:06050110.7FGFR2, FGF7
5positive regulation of keratinocyte migrationGO:05154910.7FGF7, MMP9
6epidermal growth factor receptor signaling pathwayGO:00717310.6FGFR2, TGFA, FGF2, FGF7
7keratinocyte differentiationGO:03021610.6KRT10, FLG, IVL
8positive regulation of epithelial cell proliferationGO:05067910.6FGFR2, FGF7, TGFA
9wound healingGO:04206010.5S100A8, TGFA, FGF2
10epidermis developmentGO:00854410.5KRT13, KRT16, FGF7
11branching involved in salivary gland morphogenesisGO:06044510.5FGF7, FGFR2
12extracellular matrix organizationGO:03019810.4TNFRSF11B, FGF2, MMP1, MMP9
13organ morphogenesisGO:00988710.2FGF2, FGFR2, TNFSF11

Molecular functions related to Cholesteatoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00512510.5IL1A, FGF2, TNFRSF11B, TNFSF11

Products for genes affiliated with Cholesteatoma

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  • Proteins
  • Lysates
  • Antibodies

Sources for Cholesteatoma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet