MCID: CHL069
MIFTS: 52

Cholesteatoma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Cholesteatoma

MalaCards integrated aliases for Cholesteatoma:

Name: Cholesteatoma 12 49 51 41 14 69
Secondary Acquired Cholesteatoma 49
Primary Acquired Cholesteatoma 49
Congenital Cholesteatoma 49

Classifications:



External Ids:

Disease Ontology 12 DOID:869
ICD10 32 H71.9 H71.90
ICD9CM 34 385.30
MeSH 41 D002781
NCIt 46 C2944
UMLS 69 C0008373

Summaries for Cholesteatoma

NIH Rare Diseases : 49 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. Last updated: 4/28/2017

MalaCards based summary : Cholesteatoma, also known as secondary acquired cholesteatoma, is related to cholesteatoma of middle ear and cholesteatoma of external ear. An important gene associated with Cholesteatoma is LGALS8 (Galectin 8), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Clonidine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include middle ear, bone and skin, and related phenotypes are Increased shRNA abundance and immune system

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.

Related Diseases for Cholesteatoma

Diseases in the Cholesteatoma family:

Cholesteatoma, Congenital

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

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 cholesteatoma of middle ear 33.4 DEFB4A IL1A KRT13 MMP9 TNFSF11
2 cholesteatoma of external ear 12.4
3 maxillary sinus cholesteatoma 12.3
4 cholesteatoma of attic 12.0
5 cholesteatoma, congenital 11.9
6 focal labyrinthitis 11.2
7 purulent labyrinthitis 10.9
8 chronic follicular conjunctivitis 10.6 IL1A MMP9
9 otitis media 10.5
10 villonodular synovitis 10.5 MMP9 TNFSF11
11 anal fistula 10.4 DEFB4A MMP9
12 basal cell carcinoma, infundibulocystic 10.4 KRT10 KRT14
13 mastoiditis 10.4
14 polyarticular onset juvenile idiopathic arthritis 10.4 TNFRSF11B TNFSF11
15 acanthoma 10.4 FGFR2 KRT10
16 tinea corporis 10.4 DEFB4A KRT16
17 steatocystoma multiplex 10.4 KRT10 KRT16
18 bowen's disease 10.4 KRT10 KRT16
19 hemophilic arthropathy 10.3 TNFRSF11B TNFSF11
20 amaurosis fugax 10.3 MMP8 MMP9
21 paget disease of bone 5, juvenile-onset 10.3 TNFRSF11B TNFSF11
22 large cell acanthoma 10.3 KRT10 KRT14
23 suppurative otitis media 10.3
24 multicentric reticulohistiocytosis 10.3 TNFRSF11B TNFSF11
25 kummell's disease 10.3 TNFRSF11B TNFSF11
26 epidermolysis bullosa simplex with mottled pigmentation 10.3 KRT10 KRT14
27 chronic apical periodontitis 10.3 TNFRSF11B TNFSF11
28 familial expansile osteolysis 10.3 TNFRSF11B TNFSF11
29 limbal stem cell deficiency 10.3 IL1A KRT13 KRT14
30 squamous cell carcinoma of the oral tongue 10.3 KRT10 KRT16
31 skin conditions 10.3 IL1A TNF
32 chronic actinic dermatitis 10.3 FLG MMP9
33 breast squamous cell carcinoma 10.2 KRT10 KRT14
34 intraneural perineurioma 10.2 KRT10 KRT13 KRT14
35 scleritis 10.2 MMP9 TNF
36 root resorption 10.2 IL1A TNFRSF11B TNFSF11
37 pinguecula 10.2 KRT10 KRT14 KRT16
38 striate palmoplantar keratoderma 10.2 KRT10 KRT14
39 giant cell tumor 10.2 MMP9 TNFRSF11B TNFSF11
40 primary cutaneous amyloidosis 10.2 KRT10 KRT14 KRT16
41 ichthyosis bullosa of siemens 10.2 KRT10 KRT14 KRT16
42 paratyphoid fever 10.2 IL1A TNF
43 breast adenocarcinoma 10.1 MMP9 TNF TNFSF11
44 tongue cancer 10.1 KRT13 MMP8 MMP9
45 interstitial lung disease 10.1 IL1A MMP9 TNF
46 osteomyelitis 10.1 IL1A TNF TNFSF11
47 glossitis 10.1 KRT16 TNF
48 blepharoconjunctivitis 10.1 FGFR2 MMP8
49 bacterial vaginosis 10.1 DEFB4A IL1A TNF
50 periodontitis, aggressive, 1 10.1 IL1A MMP8

Graphical network of the top 20 diseases related to Cholesteatoma:



Diseases related to Cholesteatoma

Symptoms & Phenotypes for Cholesteatoma

GenomeRNAi Phenotypes related to Cholesteatoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 DEFB1 FGF7 FGFR2 KRT14 LGALS8

MGI Mouse Phenotypes related to Cholesteatoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 IL1A KRT14 LGALS8 MMP8 MMP9 TNF
2 craniofacial MP:0005382 9.73 KRT14 KRT16 TNF TNFRSF11B TNFSF11 FGFR2
3 integument MP:0010771 9.56 KRT14 KRT16 MMP9 TNF TNFSF11 FGF7
4 neoplasm MP:0002006 9.17 KRT14 MMP8 MMP9 TNF TNFSF11 FGFR2

Drugs & Therapeutics for Cholesteatoma

Drugs for Cholesteatoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 2 4205-90-7 2803
2
Bupivacaine Approved, Investigational Phase 2 38396-39-3, 2180-92-9 2474
3 Analgesics Phase 2
4 Central Nervous System Depressants Phase 2
5 Adrenergic Agents Phase 2
6 Adrenergic Agonists Phase 2
7 Adrenergic alpha-2 Receptor Agonists Phase 2
8 Adrenergic alpha-Agonists Phase 2
9 Sympatholytics Phase 2
10 Neurotransmitter Agents Phase 2
11 Anesthetics Phase 2
12 Anesthetics, Local Phase 2
13 Peripheral Nervous System Agents Phase 2
14 Antihypertensive Agents Phase 2
15 Autonomic Agents Phase 2
16
Epinephrine Approved, Vet_approved 51-43-4 5816
17
Lidocaine Approved, Vet_approved 137-58-6 3676
18 Racepinephrine Approved 329-65-7
19 Epinephryl borate

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 A Study of the Clinicopathologic Behaviour of the Different Types of Unsafe Chronic Otitis Media Unknown status NCT00270660 Phase 3
2 Great Auricular Nerve Block for Tympanomastoid Surgery: Will the Addition of Clonidine Enhance the Duration of Analgesia? Completed NCT01638052 Phase 2 0.25% Bupivacaine + Clonidine
3 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
4 Magnetic Resonance (MR) Imaging in the Post Operative Follow-up of Cholesteatoma in Children Completed NCT00682409
5 Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively Completed NCT02554422
6 Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
7 Usefulness of Non EPI-DWI-MRI / CT 3D Static Co-registration Prior to Surgery of Cholesteatomas Recruiting NCT02903550
8 Combined Access Closed Tympanomastoidectomy: Microsurgery Allied to Endoscopy Recruiting NCT03294421
9 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888
10 Detection of Cholesteatoma Using Diffusion Magnetic Resonance Imaging Not yet recruiting NCT03305796
11 Evaluation of Prognostic Factors in Tympanoplasty Not yet recruiting NCT03416725

Search NIH Clinical Center for Cholesteatoma

Cochrane evidence based reviews: cholesteatoma

Genetic Tests for Cholesteatoma

Anatomical Context for Cholesteatoma

The Foundational Model of Anatomy Ontology organs/tissues related to Cholesteatoma:

18
Middle Ear

MalaCards organs/tissues related to Cholesteatoma:

38
Bone, Skin, Testes, Brain, Temporal Lobe, Endothelial, Neutrophil

Publications for Cholesteatoma

Articles related to Cholesteatoma:

(show top 50) (show all 925)
# Title Authors Year
1
Five-year postoperative outcomes of modified staged canal wall up tympanoplasty for primary acquired cholesteatoma. ( 29327305 )
2018
2
Cholesteatoma surgery with the canal wall up technique combined with mastoid obliteration: results from primary surgery in 230 consecutive cases. ( 29298539 )
2018
3
No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia. ( 29447810 )
2018
4
Reconstruction of the Canal wall in CWU Tympanoplasty for Cholesteatoma with Titanium Sheeting. ( 29315195 )
2018
5
Clinical Characteristics and Treatment Outcomes for Patients With External Auditory Canal Cholesteatoma. ( 29210949 )
2018
6
Challenges and outcomes of cholesteatoma management in children with Down syndrome. ( 29447898 )
2018
7
Does non-echo-planar diffusion-weighted magnetic resonance imaging have a role in assisting the clinical diagnosis of cholesteatoma in selected cases? ( 29353560 )
2018
8
Reconstruction of the Canal Wall in Tympanoplasty for Cholesteatoma with Titanium Sheeting. ( 29315196 )
2018
9
One-Stage Complete Resection of Cholesteatoma With Labyrinthine Fistula: Hearing Changes and Clinical Outcomes. ( 29405738 )
2018
10
The Impact of the Transcanal Endoscopic Approach and Mastoid Preservation on Recurrence of Primary Acquired Attic Cholesteatoma. ( 29342049 )
2018
11
Preauricular Approach for Cholesteatoma Resection After Surgical Overclosure of the External Auditory Canal and Cochlear Implantation. ( 29342052 )
2018
12
Cochlear Implantation in Chronic Otitis Media With Cholesteatoma and Open Cavities: Long-term Surgical Outcomes. ( 29227448 )
2018
13
In reference to Evidence against the mucosal traction theory in cholesteatoma. ( 29392724 )
2018
14
Cochlear Fistula in Chronic Otitis Media without Cholesteatoma. ( 28704899 )
2017
15
Residual Cholesteatoma during Second-Look Procedures following Primary Pediatric Endoscopic Ear Surgery. ( 28871887 )
2017
16
Risk Factors of Recurrence in Pediatric Congenital Cholesteatoma. ( 28953605 )
2017
17
Cytokeratin 13, Cytokeratin 17, and Ki-67 Expression in Human Acquired Cholesteatoma and Their Correlation With Its Destructive Capacity. ( 28073243 )
2017
18
Is an endoscopic or a microscopic approach optimal for management of attic cholesteatoma? ( 29246391 )
2017
19
Posterior canal wall reposition for management of cholesteatoma: Technique and results. ( 28736098 )
2017
20
The Prevention of Recurrent Cholesteatoma in CWU Surgery: The Use of Titanium Sheeting. ( 28806310 )
2017
21
EAONO/JOS Joint Consensus Statements on the Definitions, Classification and Staging of Middle Ear Cholesteatoma. ( 28059056 )
2017
22
Rehabilitation of Abducens Nerve Palsy after Cholesteatoma Resection at Cerebellopontine Angle by Intraorbital Electroacupuncture. ( 28639584 )
2017
23
A Rare Case Report and Literature Review of External Auditory Canal Cholesteatoma with Circumferential Destruction of Canal Wall Exposing Facial Nerve. ( 29445559 )
2017
24
Baro-otolagia Secondary to Cholesteatoma. ( 28061926 )
2017
25
In response to Letter to the Editor entitled 'Is an endoscopic or a microscopic approach optimal for management of attic cholesteatoma?' ( 29248203 )
2017
26
Lyric hearing aid: a rare cause of benign necrotising otitis externa/external ear canal cholesteatoma. ( 29191823 )
2017
27
Day-case management of chronic suppurative otitis media with cholesteatoma with canal wall down technique surgery: long-term follow-up. ( 29071059 )
2017
28
Cartilage Ossiculoplasty from Stapes to Tympanic Membrane in One-Stage Intact Canal Wall Tympanoplasty for Cholesteatoma. ( 28816688 )
2017
29
Middle Ear, Cholesteatoma ( 28846338 )
2017
30
MDCT of the temporal bone and audiological findings of pediatric acquired cholesteatoma. ( 28828536 )
2017
31
Detection of cholesteatoma: High-resolution DWI using RS-EPI and parallel imaging at 3 tesla. ( 28673676 )
2017
32
Diffusion weighted imaging for the detection and evaluation of cholesteatoma. ( 28634512 )
2017
33
Evaluation of YAP signaling in a rat tympanic membrane under a continuous negative pressure load and in human middle ear cholesteatoma. ( 28708445 )
2017
34
Incidence of Facial Nerve Canal Dehiscence in Primary and Revision Cholesteatoma Surgery. ( 28929059 )
2017
35
Bilateral congenital cholesteatoma: Surgical treatment and considerations. ( 28688558 )
2017
36
Outpatient management of cholesteatoma with canal wall reconstruction tympanomastoidectomy. ( 29299507 )
2017
37
Increased risk of cholesteatoma among patients with allergic rhinitis: A nationwide investigation. ( 28771810 )
2017
38
Blind Sac Approach Using Silastic Block for Cochlear Implantation in Patients with Cholesteatoma. ( 28942633 )
2017
39
Mycology of chronic suppurative otitis media-cholesteatoma disease: An evaluative study. ( 29306568 )
2017
40
Expression of Prostaglandin E2 Receptors in Acquired Middle Ear Cholesteatoma. ( 28838229 )
2017
41
Is There A SystemA+c Inflammatory Effect of Cholesteatoma? ( 28050207 )
2017
42
Cholesteatoma as a complication of Langerhans Cell Histiocytosis of the temporal bone: A nationwide cross-sectional analysis. ( 28802389 )
2017
43
Piezosurgery-, neuroendoscopy-, and neuronavigation-assisted intracranial approach for removal of a recurrent petrous apex cholesteatoma: technical note. ( 29271730 )
2017
44
Parotid gland cholesteatoma in a 23-year-old male: Case report. ( 29318020 )
2017
45
Efficacy of Posterior Canal Wall Reconstruction Using Autologous Auricular Cartilage and Bone PActAc in Chronic Otitis Media with Cholesteatoma. ( 27879225 )
2016
46
Staging and classification criteria for middle ear cholesteatoma proposed by the Japan Otological Society. ( 27616746 )
2016
47
Computed tomography and magnetic resonance fusion imaging in cholesteatoma preoperative assessment. ( 27921171 )
2016
48
Intercellular Communication between Keratinocytes and Fibroblasts Induces Local Osteoclast Differentiation: a Mechanism Underlying Cholesteatoma-Induced Bone Destruction. ( 27001307 )
2016
49
Cholesteatoma of Maxillary Sinus: What Is the Best Surgical Approach? ( 27171957 )
2016
50
Giant Petrous Bone Cholesteatoma: Combined Microscopic Surgery and an Adjuvant Endoscopic Approach. ( 26937334 )
2016

Variations for Cholesteatoma

Expression for Cholesteatoma

Search GEO for disease gene expression data for Cholesteatoma.

Pathways for Cholesteatoma

Pathways related to Cholesteatoma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 DEFB1 DEFB4A FGF7 FGFR2 IL1A MMP8
2
Show member pathways
13.06 FGF7 FGFR2 IL1A MMP9 TNF TNFRSF11B
3
Show member pathways
12.82 FGF7 FGFR2 FLG KRT10 KRT13 KRT14
4
Show member pathways
12.01 FLG KRT10 KRT13 KRT14 KRT16
5 11.82 IL1A MMP9 TNF
6 11.79 IL1A MMP9 TNF
7
Show member pathways
11.75 KRT13 KRT14 KRT16
8
Show member pathways
11.67 MMP8 MMP9 TNF
9 11.67 IL1A TNF TNFRSF11B TNFSF11
10 11.61 IL1A TNF TNFSF11
11
Show member pathways
11.52 TNF TNFRSF11B TNFSF11
12 11.34 FGF7 MMP9 TNF
13
Show member pathways
11.3 IL1A MMP9 TNF
14 10.76 FGF7 FGFR2 IL1A TNF TNFSF11
15 10.75 TNFRSF11B TNFSF11
16 10.66 TNFRSF11B TNFSF11
17 10.58 IL1A TNF TNFRSF11B TNFSF11

GO Terms for Cholesteatoma

Cellular components related to Cholesteatoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 DEFB1 DEFB4A FGF7 FGFR2 IL1A MMP8
2 intermediate filament GO:0005882 9.35 FLG KRT10 KRT13 KRT14 KRT16
3 extracellular space GO:0005615 9.32 DEFB1 DEFB4A IL1A KRT10 LGALS8 MMP8

Biological processes related to Cholesteatoma according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.83 FGF7 IL1A TNF TNFRSF11B TNFSF11
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.74 TNF TNFRSF11B TNFSF11
3 animal organ morphogenesis GO:0009887 9.73 FGFR2 TNF TNFSF11
4 keratinization GO:0031424 9.71 KRT10 KRT13 KRT14 KRT16
5 epidermis development GO:0008544 9.7 FGF7 KRT14 KRT16
6 defense response to Gram-positive bacterium GO:0050830 9.69 DEFB1 DEFB4A TNF
7 keratinocyte differentiation GO:0030216 9.65 FLG KRT10 KRT16
8 positive regulation of osteoclast differentiation GO:0045672 9.58 TNF TNFSF11
9 establishment of skin barrier GO:0061436 9.58 FLG KRT16
10 hair cycle GO:0042633 9.55 KRT14 KRT16
11 regulation of osteoclast differentiation GO:0045670 9.54 TNF TNFSF11
12 branching involved in salivary gland morphogenesis GO:0060445 9.49 FGF7 FGFR2
13 positive regulation of keratinocyte migration GO:0051549 9.46 FGF7 MMP9
14 positive regulation of protein kinase B signaling GO:0051897 9.46 FGF7 FGFR2 TNF TNFSF11
15 positive regulation of cell division GO:0051781 9.43 FGF7 FGFR2 IL1A
16 immune response GO:0006955 9.43 DEFB1 DEFB4A IL1A TNF TNFRSF11B TNFSF11
17 positive regulation of epithelial cell proliferation involved in lung morphogenesis GO:0060501 9.37 FGF7 FGFR2
18 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.32 FGFR2 TNF
19 cornification GO:0070268 9.02 FLG KRT10 KRT13 KRT14 KRT16

Molecular functions related to Cholesteatoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.46 FLG KRT10 KRT13 KRT16
2 structural constituent of epidermis GO:0030280 9.26 FLG KRT10
3 cytokine activity GO:0005125 9.26 IL1A TNF TNFRSF11B TNFSF11
4 CCR6 chemokine receptor binding GO:0031731 8.62 DEFB1 DEFB4A

Sources for Cholesteatoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....