MCID: CHL122
MIFTS: 55

Cholesteatoma of Middle Ear

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cholesteatoma of Middle Ear

MalaCards integrated aliases for Cholesteatoma of Middle Ear:

Name: Cholesteatoma of Middle Ear 12 15
Cholesteatoma 12 53 55 44 15 73
Middle Ear Cholesteatoma 12 73
Cholesteatoma of Middle Ear and/or Mastoid 12
Cholesteatoma of Middle Ear and Mastoid 12
Secondary Acquired Cholesteatoma 53
Cholesteatoma of the Middle Ear 12
Primary Acquired Cholesteatoma 53
Epidermosis of Middle Ear 12
Cholesteatoma, Middle Ear 44
Congenital Cholesteatoma 53
Cholesteatoma Middle Ear 55
Epidermosis of Ear 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10964 DOID:869
ICD10 33 H71 H71.9 H71.90
NCIt 50 C3654 C2944

Summaries for Cholesteatoma of Middle Ear

NIH Rare Diseases : 53 Cholesteatoma is an abnormal growth of skin in the middle ear behind the eardrum. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infections. Individuals with this condition usually experience a painless discharge from the ear.Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Treatment usually involves surgery to remove the growth.

MalaCards based summary : Cholesteatoma of Middle Ear, also known as cholesteatoma, is related to papilloma and orofacial cleft, and has symptoms including earache An important gene associated with Cholesteatoma of Middle Ear is MIR21 (MicroRNA 21), and among its related pathways/superpathways are Akt Signaling and Developmental Biology. Affiliated tissues include bone, skin and brain, and related phenotypes are integument and digestive/alimentary

Disease Ontology : 12 A keratosis characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.

Wikipedia : 76 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Related Diseases for Cholesteatoma of Middle Ear

Diseases related to Cholesteatoma of Middle Ear via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 papilloma 29.6 KRT13 KRT10 FLG
2 orofacial cleft 29.1 TGFA FGFR2 FGF2
3 cholesteatoma of external ear 12.5
4 maxillary sinus cholesteatoma 12.4
5 cholesteatoma of attic 12.2
6 cholesteatoma, congenital 12.0
7 focal labyrinthitis 11.4
8 purulent labyrinthitis 11.1
9 otitis media 10.7
10 suppurative otitis media 10.5
11 perilymphatic fistula 10.4
12 mastoiditis 10.3
13 chronic follicular conjunctivitis 10.2 MMP9 IL1A
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
15 facial paralysis 10.2
16 villonodular synovitis 10.2 TNFSF11 MMP9
17 tinea corporis 10.2 KRT16 DEFB4A
18 acanthoma 10.2 KRT10 FGFR2
19 oral cancer 10.1 MMP9 MIR21 KRT13
20 gingivitis 10.1 MMP9 IL1A DEFB4A
21 chronic actinic dermatitis 10.1 MMP9 FLG
22 fibrous dysplasia 10.1
23 labyrinthitis 10.1
24 bowen's disease 10.1 KRT16 KRT10
25 steatocystoma multiplex 10.1 KRT16 KRT10
26 squamous cell carcinoma of the oral tongue 10.1 KRT16 KRT10
27 herpes simplex virus keratitis 10.1 LGALS8 ICAM1
28 periodontitis 10.1 TNFSF11 MMP9 IL1A
29 thrombosis 10.1
30 bone resorption disease 10.1
31 keratosis 10.1
32 meningitis 10.1
33 white sponge nevus 1 10.1 KRT16 KRT13 KRT10
34 limbal stem cell deficiency 10.1 KRT13 IL1A ICAM1
35 filamentary keratitis 10.1 KRT10 FLG
36 anal fistula 10.1 MMP9 EGF DEFB4A
37 irritant dermatitis 10.0 KRT16 IL1A FLG
38 epidermoid cysts 10.0
39 aural atresia, congenital 10.0
40 tympanosclerosis 10.0
41 otitis externa 10.0
42 proteasome-associated autoinflammatory syndrome 1 10.0 MMP9 IL1A ICAM1
43 periodontal disease 10.0 TNFSF11 MMP9 IL1A DEFB4A
44 periodontosis 10.0 TNFSF11 MMP9
45 discoid lupus erythematosus 10.0 KRT16 KRT10 FLG
46 palmoplantar keratoderma, epidermolytic 10.0 KRT16 KRT10 FLG
47 keratoacanthoma 10.0 KRT16 KRT10 FLG
48 pachyonychia congenita 1 10.0 KRT16 KRT10 FLG
49 epidermolytic hyperkeratosis 10.0 KRT16 KRT10 FLG
50 vernal keratoconjunctivitis 10.0 MMP9 ICAM1

Comorbidity relations with Cholesteatoma of Middle Ear via Phenotypic Disease Network (PDN):


Otitis Media

Graphical network of the top 20 diseases related to Cholesteatoma of Middle Ear:



Diseases related to Cholesteatoma of Middle Ear

Symptoms & Phenotypes for Cholesteatoma of Middle Ear

UMLS symptoms related to Cholesteatoma of Middle Ear:


earache

MGI Mouse Phenotypes related to Cholesteatoma of Middle Ear:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.76 EGF FGFR2 ICAM1 IL1A KRT16 MMP9
2 digestive/alimentary MP:0005381 9.73 EGF FGFR2 ICAM1 KRT16 MMP9 TGFA
3 neoplasm MP:0002006 9.43 FGF2 FGFR2 ICAM1 IL1A MMP9 TNFSF11
4 vision/eye MP:0005391 9.17 EGF FGF2 FGFR2 ICAM1 MMP9 TGFA

Drugs & Therapeutics for Cholesteatoma of Middle Ear

Search Clinical Trials , NIH Clinical Center for Cholesteatoma of Middle Ear

Cochrane evidence based reviews: cholesteatoma

Genetic Tests for Cholesteatoma of Middle Ear

Anatomical Context for Cholesteatoma of Middle Ear

MalaCards organs/tissues related to Cholesteatoma of Middle Ear:

41
Bone, Skin, Brain, Testes, Tongue, Breast, Prostate

Publications for Cholesteatoma of Middle Ear

Articles related to Cholesteatoma of Middle Ear:

(show top 50) (show all 324)
# Title Authors Year
1
The Value of Diffusion-Weighted MRI in the Long-term follow-up After Subtotal Petrosectomy for Extensive Cholesteatoma and Chronic Suppurative Otitis Media. ( 30531639 )
2019
2
Congenital Cholesteatoma of the Mastoid Causing Posterior Semicircular Canal Dehiscence. ( 30531644 )
2019
3
Is transcanal tympanoplasty an appropriate surgical treatment for congenital middle ear cholesteatoma with ossicular involvement? ( 30554678 )
2019
4
Imaging in autoimmune inner-ear disease and endolymphatic hydrops, bone cement for improving hearing outcomes in stapes surgery, and the reporting of results. External ear canal cholesteatoma: a hypothesis. ( 30019670 )
2018
5
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
6
Fatal cervicomediastinal necrotising fasciitis due to cholesteatoma. ( 29651799 )
2018
7
Hemifacial spasm secondary to middle ear cholesteatoma. ( 30036421 )
2018
8
Extended-spectrum Beta-lactamase-producing Escherichia coli Meningitis That Developed from Otitis Media with Cholesteatoma. ( 29877280 )
2018
9
Surgical management of middle ear cholesteatoma in children with Turner syndrome: a multicenter experience. ( 30333463 )
2018
10
Middle ear lipoma mimicking a congenital cholesteatoma: A case report and review of the literature. ( 30368369 )
2018
11
Analysis of the dura involvement in cholesteatoma surgery. ( 28330628 )
2018
12
The genetics of cholesteatoma. A systematic review using narrative synthesis. ( 28485112 )
2018
13
MRI in otology: applications in cholesteatoma and Ménière's disease. ( 28969854 )
2018
14
Evidence against the mucosal traction theory in cholesteatoma. ( 28988463 )
2018
15
Endoscopic versus microscopic approach in attic cholesteatoma surgery. ( 29037582 )
2018
16
Complete Malleus Removal for Cholesteatoma: A Multivariate Analysis of Ossiculoplasty Success and Residual Disease. ( 29171281 )
2018
17
Transcanal Endoscopic Ear Surgery to Treat Middle-Ear Cholesteatoma Should be Performed Cautiously. ( 29210946 )
2018
18
Piezosurgery-, neuroendoscopy-, and neuronavigation-assisted intracranial approach for removal of a recurrent petrous apex cholesteatoma: technical note. ( 29271730 )
2018
19
Mrmc Neo Surgical Ventilating Port and Neo Attic Malleo-Incudal Complex in Endoscopic Management of Limited Attico-Antral Cholesteatoma. ( 29456940 )
2018
20
Clinical Features and Surgical Management of Cerebellopontine Angle Cholesteatoma That Presented as Trigeminal Neuralgia. ( 29454958 )
2018
21
Postoperative efficacy analysis of patients with facial nerve palsy associated with cholesteatoma otitis media: Our experience with 32 patients. ( 29168315 )
2018
22
Assessment of nasal functions and their relationship with cholesteatoma formation in patients with unilateral chronic otitis media. ( 30305189 )
2018
23
Bilateral congenital cholesteatoma: A case report and review of the literature. ( 29501306 )
2018
24
Endoscopic visualization to the anterior surface of the malleus and tensor tympani tendon in congenital cholesteatoma. ( 29508055 )
2018
25
Curved adjustable fibre-optic diode laser in microscopic cholesteatoma surgery: description of use and review of the relevant literature. ( 29517472 )
2018
26
Canal wall-down procedure with soft posterior meatal wall reconstruction in acquired cholesteatoma: focus on postoperative middle ear status. ( 29519185 )
2018
27
Application of Regenerative Treatment for Tympanic Membrane Perforation With Cholesteatoma, Tumor, or Severe Calcification. ( 29533334 )
2018
28
Single-Stage Mastoid Obliteration in Cholesteatoma Surgery and Recurrent and Residual Disease Rates: A Systematic Review. ( 29543959 )
2018
29
Keratinocyte Growth Factor (KGF) Modulates Epidermal Progenitor Cell Kinetics through Activation of p63 in Middle Ear Cholesteatoma. ( 29549594 )
2018
30
Response to "The Prevention of Recurrent Cholesteatoma in CWU Surgery". ( 29557844 )
2018
31
Downregulation of MiR-203a Disinhibits Bmi1 and Promotes Growth and Proliferation of Keratinocytes in Cholesteatoma. ( 29559833 )
2018
32
Long noncoding RNAs show differential expression profiles and display ceRNA potential in cholesteatoma pathogenesis. ( 29565455 )
2018
33
Reconstruction of the Canal Wall in Tympanoplasty for Cholesteatoma With Titanium Sheeting. ( 29595581 )
2018
34
Cholesteatoma labyrinthine fistula: prevalence and impact. ( 29599061 )
2018
35
Are human ATP-binding cassette transporter C11 and earwax associated with the incidence of cholesteatoma? ( 29602456 )
2018
36
Bilateral Congenital Cholesteatoma. ( 29649053 )
2018
37
Stem cells in middle ear cholesteatoma contribute to its pathogenesis. ( 29670222 )
2018
38
The Role of Tympanic Membrane Retractions in Cholesteatoma Pathogenesis. ( 29682575 )
2018
39
Association between facial nerve second genu angle and facial canal dehiscence in patients with cholesteatoma: evaluation with temporal multidetector computed tomography and surgical findings. ( 29699880 )
2018
40
Functional and Anatomical Outcome of Inside Out Technique For Cholesteatoma Surgery. ( 29748054 )
2018
41
Treatment of cholesteatoma with intact ossicular chain: anatomic and functional results. ( 29756616 )
2018
42
A giant cholesteatoma of the mastoid extending into the foramen magnum: A case report and review of literature. ( 29844894 )
2018
43
ADC Benchmark Range for Correct Diagnosis of Primary and Recurrent Middle Ear Cholesteatoma. ( 29854790 )
2018
44
Radiological differences between HIV-positive and HIV-negative children with cholesteatoma. ( 29859589 )
2018
45
The Bony Obliteration Tympanoplasty in Pediatric Cholesteatoma: Long-term Hearing Results. ( 29889781 )
2018
46
Down-regulation of exosomal miR-106b-5p derived from cholesteatoma perimatrix fibroblasts promotes angiogenesis in endothelial cells by overexpression of Angiopoietin 2. ( 29905392 )
2018
47
Cholesteatoma in children and adults: are there really any differences? ( 29909808 )
2018
48
Application of high resolution computer tomography in external ear canal cholesteatoma diagnosis. ( 29937863 )
2018
49
Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma. ( 29940721 )
2018
50
Review on Otological Robotic Systems: Toward Microrobot-Assisted Cholesteatoma Surgery. ( 29994589 )
2018

Variations for Cholesteatoma of Middle Ear

Expression for Cholesteatoma of Middle Ear

Search GEO for disease gene expression data for Cholesteatoma of Middle Ear.

Pathways for Cholesteatoma of Middle Ear

Pathways related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 EGF FGF2 FGFR2 IL1A TGFA TNFSF11
2
Show member pathways
13.22 EGF FGF2 FGFR2 FLG KRT10 KRT13
3
Show member pathways
13.16 EGF FGF2 FGFR2 ICAM1 IL1A MMP9
4
Show member pathways
13.14 EGF FGF2 FGFR2 IL1A TGFA TNFSF11
5
Show member pathways
12.89 KRT10 KRT13 KRT16 MMP9 TGFA
6 12.69 EGF FGF2 FGFR2 MMP9 TGFA
7
Show member pathways
12.62 EGF FGF2 FGFR2 MMP9 TGFA
8 12.6 EGF FGF2 FGFR2 IL1A TGFA
9
Show member pathways
12.59 EGF FGF2 FGFR2 TGFA TNFSF11
10
Show member pathways
12.58 EGF FGF2 FGFR2 TGFA
11
Show member pathways
12.5 EGF FGF2 FGFR2 IL1A TGFA
12
Show member pathways
12.33 FLG KRT10 KRT13 KRT16
13
Show member pathways
12.12 FGF2 FGFR2 IL1A TGFA
14
Show member pathways
12.03 EGF FGF2 FGFR2
15 11.95 ICAM1 IL1A MMP9
16 11.9 EGF FGF2 FGFR2 TGFA
17 11.87 ICAM1 IL1A MMP9
18 11.73 FGF2 ICAM1 IL1A MMP9
19 11.71 ICAM1 IL1A TNFSF11
20 11.58 EGF FGF2 FGFR2 TGFA
21
Show member pathways
11.53 ICAM1 IL1A MMP9
22
Show member pathways
11.48 EGF MMP9 TGFA
23 11.41 FGF2 FGFR2 MMP9 TGFA
24 11.35 EGF FGF2 TNFSF11
25 11.26 EGF FGF2 FGFR2
26
Show member pathways
11.11 EGF FGF2 FGFR2 ICAM1 IL1A TGFA
27 11.06 EGF FGF2 MMP9 TGFA
28 11.04 ICAM1 MMP9
29 10.96 EGF FGF2 FGFR2
30 10.81 FGF2 FGFR2 MMP9
31 10.7 EGF FGF2 FGFR2 IL1A TGFA TNFSF11

GO Terms for Cholesteatoma of Middle Ear

Cellular components related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 EGF ICAM1 KRT10 KRT13 KRT16 MIR21
2 extracellular region GO:0005576 9.61 DEFB4A EGF FGF2 FGFR2 IL1A KRT10
3 intermediate filament GO:0005882 9.46 FLG KRT10 KRT13 KRT16
4 extracellular space GO:0005615 9.36 DEFB4A EGF FGF2 ICAM1 IL1A KRT10

Biological processes related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.93 EGF FGF2 FGFR2 MIR21 TGFA
2 positive regulation of gene expression GO:0010628 9.92 EGF IL1A MIR21 TNFSF11
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.81 FGF2 FGFR2 ICAM1 MIR21
4 angiogenesis GO:0001525 9.8 EGF FGF2 FGFR2 TGFA
5 positive regulation of angiogenesis GO:0045766 9.79 FGF2 IL1A MIR21
6 animal organ morphogenesis GO:0009887 9.77 FGF2 FGFR2 TNFSF11
7 activation of MAPK activity GO:0000187 9.76 EGF FGF2 TGFA
8 phosphatidylinositol phosphorylation GO:0046854 9.75 EGF FGF2 FGFR2
9 wound healing GO:0042060 9.74 FGF2 FGFR2 TGFA
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.73 EGF ICAM1 TGFA
11 cytokine-mediated signaling pathway GO:0019221 9.72 FGF2 ICAM1 IL1A MMP9 TNFSF11
12 keratinocyte differentiation GO:0030216 9.7 FLG KRT10 KRT16
13 positive regulation of MAP kinase activity GO:0043406 9.63 EGF FGF2 TNFSF11
14 positive regulation of vascular endothelial cell proliferation GO:1905564 9.62 FGF2 MIR21
15 establishment of skin barrier GO:0061436 9.61 FLG KRT16
16 response to copper ion GO:0046688 9.6 ICAM1 IL1A
17 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.58 FGF2 MIR21 MMP9
18 cornification GO:0070268 9.56 FLG KRT10 KRT13 KRT16
19 positive regulation of epidermal growth factor-activated receptor activity GO:0045741 9.55 EGF TGFA
20 positive regulation of mitotic nuclear division GO:0045840 9.54 EGF IL1A TGFA
21 paracrine signaling GO:0038001 9.48 FGF2 TNFSF11
22 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.43 ICAM1 MIR21
23 positive regulation of protein kinase B signaling GO:0051897 9.35 EGF FGF2 FGFR2 MIR21 TNFSF11
24 mammary gland alveolus development GO:0060749 9.33 EGF TGFA TNFSF11
25 positive regulation of cell division GO:0051781 8.92 FGF2 FGFR2 IL1A TGFA

Molecular functions related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.61 EGF FGF2 TGFA
2 protein tyrosine kinase activity GO:0004713 9.58 EGF FGF2 FGFR2
3 integrin binding GO:0005178 9.5 FGF2 ICAM1 LGALS8
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 EGF FGF2 FGFR2
5 structural molecule activity GO:0005198 9.26 FLG KRT10 KRT13 KRT16
6 structural constituent of epidermis GO:0030280 9.16 FLG KRT10
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 EGF FGF2 FGFR2
8 protein binding GO:0005515 10.18 DEFB4A EGF FGF2 FGFR2 FLG ICAM1

Sources for Cholesteatoma of Middle Ear

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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