MCID: CHL069
MIFTS: 49

Cholesteatoma malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Cholesteatoma

Aliases & Descriptions for Cholesteatoma:

Name: Cholesteatoma 12 50 52 42 14 69
Secondary Acquired Cholesteatoma 50
Primary Acquired Cholesteatoma 50
Congenital Cholesteatoma 50

Classifications:



External Ids:

Disease Ontology 12 DOID:869
ICD10 33 H71.9 H71.90
ICD9CM 35 385.30
MeSH 42 D002781
NCIt 47 C2944
UMLS 69 C0008373

Summaries for Cholesteatoma

NIH Rare Diseases : 50 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 maxillary sinus cholesteatoma and squamous cell carcinoma. 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 bone, skin and brain, and related phenotypes are immune system and craniofacial

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

Related Diseases for Cholesteatoma

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

(show top 50) (show all 148)
id Related Disease Score Top Affiliating Genes
1 maxillary sinus cholesteatoma 33.1 KRT13 MMP2 MMP8 MMP9
2 squamous cell carcinoma 29.8 FGFR2 KRT10 KRT14
3 histiocytosis 27.9 DEFB1 DEFB4A IL1A MMP2 MMP8 MMP9
4 cholesteatoma of middle ear 12.2
5 cholesteatoma of external ear 12.2
6 cholesteatoma of attic 11.9
7 purulent labyrinthitis 10.8
8 focal labyrinthitis 10.8
9 otitis media 10.4
10 toxic optic neuropathy 10.3 IL1A MMP9
11 mastoiditis 10.3
12 phka2-related phosphorylase kinase deficiency 10.3 TNFRSF11B TNFSF11
13 developmental coordination disorder 10.2 MMP9 TNFSF11
14 birk-barel mental retardation dysmorphism syndrome 10.2 TNFRSF11B TNFSF11
15 osteopetrosis, autosomal recessive 7 10.2 TNFRSF11B TNFSF11
16 suppurative otitis media 10.2
17 lymphedema 10.2 IL1A KRT13 KRT14
18 hepatic fibrosis renal cysts mental retardation 10.2 TNFRSF11B TNFSF11
19 facio skeletal genital syndrome rippberger type 10.2 MMP2 MMP9
20 dicrocoeliasis 10.2 DEFB4A KRT16
21 aminoaciduria 10.2 MMP8 MMP9
22 glossitis 10.2 IL1A TNFRSF11B TNFSF11
23 cortical blindness 10.2 TNFRSF11B TNFSF11
24 mongolian spot 10.2 KRT10 KRT13 KRT14
25 acute tricyclic antidepressant poisoning 10.2 MMP2 MMP9
26 preretinal fibrosis 10.2 MMP9 TNFRSF11B TNFSF11
27 intrahepatic cholestasis 10.2 MMP9 TNFRSF11B TNFSF11
28 secondary corneal edema 10.2 KRT10 KRT14 KRT16
29 adult-onset distal myopathy due to vcp mutation 10.2 FLG MMP9
30 distal arthrogryposis 10.2 KRT10 KRT14 KRT16
31 inappropriate adh syndrome 10.2 DEFB4A IL1A TNF
32 scott syndrome 10.2 KRT10 KRT14 KRT16
33 classic type lipoma 10.2 IL1A TNF TNFSF11
34 plague 10.2 MMP9 TNF TNFSF11
35 kleptomania 10.2 MMP2 MMP9
36 epilepsy, idiopathic generalized 14 10.2 TNFRSF11B TNFSF11
37 leukoencephalopathy palmoplantar keratoderma 10.2 MMP2 MMP9
38 episodic angioedema with eosinophilia 10.1 FLG KRT10
39 thymus adenocarcinoma 10.1 MMP2 MMP9
40 insulinoma 10.1 FLG KRT10
41 nervous system cancer 10.1 IL1A MMP9 TNF
42 female reproductive system disease 10.1 KRT10 KRT14 TNF
43 leptospirosis 10.1 KRT10 KRT14 TNF
44 brachydactyly small stature face anomalies 10.1 FLG KRT10 KRT16
45 familial acute necrotizing encephalopathy 10.1 FLG KRT10 KRT16
46 anaplastic large cell lymphoma 10.1 IL1A KRT14 TNF
47 celiac disease 10.1 TNF TNFRSF11B TNFSF11
48 pachyonychia congenita 2 10.1 FLG KRT10 KRT16
49 malignant spindle cell melanoma 10.1 FLG KRT10 KRT16
50 ichthyosis histrix, curth-macklin type 10.1 FLG KRT10 KRT16

Graphical network of the top 20 diseases related to Cholesteatoma:



Diseases related to Cholesteatoma

Symptoms & Phenotypes for Cholesteatoma

MGI Mouse Phenotypes related to Cholesteatoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 FGFR2 IL1A KRT14 LGALS8 MMP2 MMP8
2 craniofacial MP:0005382 9.8 FGFR2 KRT14 KRT16 MMP2 TNF TNFRSF11B
3 integument MP:0010771 9.5 FGFR2 IL1A KRT14 KRT16 MMP9 TNF
4 neoplasm MP:0002006 9.23 TNF TNFSF11 FGFR2 IL1A KRT14 MMP2

Drugs & Therapeutics for Cholesteatoma

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 2 4205-90-7 2803
2
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
3 Analgesics Phase 2
4 Adrenergic Agents Phase 2
5 Adrenergic Agonists Phase 2
6 Adrenergic alpha-2 Receptor Agonists Phase 2
7 Adrenergic alpha-Agonists Phase 2
8 Neurotransmitter Agents Phase 2
9 Sympatholytics Phase 2
10 Anesthetics Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Anesthetics, Local Phase 2
13 Antihypertensive Agents Phase 2
14 Autonomic Agents Phase 2
15 Central Nervous System Depressants Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
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
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 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Enrolling by invitation NCT02019888

Search NIH Clinical Center for Cholesteatoma

Cochrane evidence based reviews: cholesteatoma

Genetic Tests for Cholesteatoma

Anatomical Context for Cholesteatoma

MalaCards organs/tissues related to Cholesteatoma:

39
Bone, Skin, Brain, Endothelial, Temporal Lobe, Neutrophil, Placenta

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

18
Middle Ear

Publications for Cholesteatoma

Articles related to Cholesteatoma:

(show top 50) (show all 884)
id Title Authors Year
1
Baro-otolagia Secondary to Cholesteatoma. ( 28061926 )
2017
2
Is There A SystemA+c Inflammatory Effect of Cholesteatoma? ( 28050207 )
2017
3
EAONO/JOS Joint Consensus Statements on the Definitions, Classification and Staging of Middle Ear Cholesteatoma. ( 28059056 )
2017
4
Cytokeratin 13, Cytokeratin 17, and Ki-67 Expression in Human Acquired Cholesteatoma and Their Correlation With Its Destructive Capacity. ( 28073243 )
2017
5
The role of bone resorption in the etiopathogenesis of acquired middle ear cholesteatoma. ( 27981350 )
2016
6
Spontaneous external auditory canal cholesteatoma in a young male: Imaging findings and differential diagnoses. ( 27413272 )
2016
7
Combined Surgical Approach to Giant Cholesteatoma: A Case Report and Literature Review. ( 27117903 )
2016
8
Congenital Intratympanic Cholesteatoma in an Adult Patient: A Case Report and Review of the Literature. ( 27340998 )
2016
9
Efficacy of antibiotic prophylaxis prior to tympanoplasty for contaminated cholesteatoma. ( 27497428 )
2016
10
Cholesteatoma in ectopic kidney. ( 27635299 )
2016
11
Cholesteatoma of Maxillary Sinus: What Is the Best Surgical Approach? ( 27171957 )
2016
12
Biochemical and Bioimaging Evidence of Cholesterol in Acquired Cholesteatoma. ( 27084586 )
2016
13
Pediatric Endoscopic Cholesteatoma Surgery. ( 26932974 )
2016
14
Cholesteatoma: Is a second stage necessary? ( 27083397 )
2016
15
School performance in cholesteatoma-operated children in Denmark: a nationwide population-based register-study. ( 26924562 )
2016
16
Clinical findings and surgical results of middle ear cholesteatoma behind an intact tympanic membrane in adults. ( 27163897 )
2016
17
Optimal use of CT imaging in pediatric congenital cholesteatoma. ( 27477570 )
2016
18
Giant Petrous Bone Cholesteatoma: Combined Microscopic Surgery and an Adjuvant Endoscopic Approach. ( 26937334 )
2016
19
Acquired cholesteatoma epithelial hyperproliferation: Roles of cell proliferation signal pathways. ( 26989841 )
2016
20
Cholesteatoma in the Sellar Region Presenting as Hypopituitarism and Diabetes Insipidus. ( 26962793 )
2016
21
Computed tomography and magnetic resonance fusion imaging in cholesteatoma preoperative assessment. ( 27921171 )
2016
22
The effects of surgery type and different ossiculoplasty materials on the hearing results in cholesteatoma surgery. ( 27837423 )
2016
23
The resected area of the posterior wall of the external auditory canal during transcanal endoscopic ear surgery for cholesteatoma. ( 27346682 )
2016
24
Clinical characteristics of pediatric external auditory canal cholesteatoma. ( 27368435 )
2016
25
Clinical Aspects and Surgical Outcomes of Congenital Cholesteatoma in 93 Children: Increasing Trends of Congenital Cholesteatoma from 1997 through 2012. ( 27942603 )
2016
26
Cost analysis and outcomes of a second-look tympanoplasty-mastoidectomy strategy for cholesteatoma. ( 26928951 )
2016
27
Soft-wall reconstruction of the canal wall with retrograde bone work for pediatric cholesteatoma: Long-term results. ( 27863632 )
2016
28
The role of diffusion-weighted magnetic resonance imaging in assessing residual/recurrent cholesteatoma after canal wall down mastoidectomy. ( 26909511 )
2016
29
Attic cholesteatoma with closure of the entrance to pars flaccida retraction pocket. ( 28041650 )
2016
30
Non-echoplanar diffusion weighted imaging in the detection of post-operative middle ear cholesteatoma: navigating beyond the pitfalls to find the pearl. ( 27558789 )
2016
31
Fibrous Dysplasia of the Temporal Bone with External Auditory Canal Stenosis and Secondary Cholesteatoma. ( 27340999 )
2016
32
Single dose intratympanic mesna application inhibits propylene glycol induced cholesteatoma formation. ( 27995828 )
2016
33
An Iatrogenic Cholesteatoma of the Squamous Part of the Temporal Bone. ( 27897131 )
2016
34
Clinical analysis on surgical management of type III external auditory canal cholesteatoma: a report of 12 cases. ( 27118359 )
2016
35
MicroRNA-21 promotes the proliferation and invasion of cholesteatoma keratinocytes. ( 27376830 )
2016
36
Tubal function tests with optional myringotomy detect Eustachian tube closing failure in acquired pars flaccida retraction cholesteatoma. ( 27427536 )
2016
37
Efficacy of Posterior Canal Wall Reconstruction Using Autologous Auricular Cartilage and Bone PActAc in Chronic Otitis Media with Cholesteatoma. ( 27879225 )
2016
38
TREM-2 promotes acquired cholesteatoma-induced bone destruction by modulating TLR4 signaling pathway and osteoclasts activation. ( 27934908 )
2016
39
Reply to comments on: Is endoscopic ear surgery an alternative to the modified Bondy technique for limited epitympanic cholesteatoma? ( 27052548 )
2016
40
Effect of surgical intervention on middle-ear cholesteatoma with associated facial paralysis. ( 27989248 )
2016
41
Expressions of isopeptide bonds and corneodesmosin in middle ear cholesteatoma. ( 27390311 )
2016
42
Diffusion-weighted magnetic resonance imaging for residual and recurrent cholesteatoma: a systematic review and meta-analysis. ( 27701821 )
2016
43
Recommendations for Potassium-Titanyl-Phosphate Laser in the Treatment of Cholesteatoma. ( 27897130 )
2016
44
Diffusion-Weighted Magnetic Resonance Imaging of Cholesteatoma Using PROPELLER at 1.5T: A Single-Centre Retrospective Study. ( 27625184 )
2016
45
Staging and classification criteria for middle ear cholesteatoma proposed by the Japan Otological Society. ( 27616746 )
2016
46
Gustatory Dysfunction and Decreased Number of Fungiform Taste Buds in Patients With Chronic Otitis Media With Cholesteatoma. ( 27141029 )
2016
47
Presence of osteoclasts in middle ear cholesteatoma: a study of undecalcified bone sections. ( 27575923 )
2016
48
An Iatrogenic Cholesteatoma of the Squamous Part of the Temporal Bone. ( 28031158 )
2016
49
Fusion of Computed Tomography and PROPELLER Diffusion-Weighted Magnetic Resonance Imaging for the Detection and Localization of Middle Ear Cholesteatoma. ( 27414044 )
2016
50
Mean Platelet Volume as a Potential Predictor of Cholesteatoma in Children. ( 27526246 )
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 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 DEFB1 DEFB4A FGFR2 IL1A MMP2 MMP8
2
Show member pathways
13.15 FGFR2 IL1A MMP2 MMP9 TNF TNFRSF11B
3
Show member pathways
13.02 FGFR2 FLG KRT10 KRT13 KRT14 KRT16
4
Show member pathways
12.22 FLG KRT10 KRT13 KRT14 KRT16
5 11.88 IL1A MMP2 MMP9 TNF
6 11.85 IL1A MMP9 TNF
7 11.81 IL1A TNF TNFRSF11B TNFSF11
8
Show member pathways
11.78 KRT13 KRT14 KRT16
9 11.72 IL1A MMP2 TNF
10 11.68 IL1A MMP2 MMP9 TNF
11 11.67 IL1A TNF TNFSF11
12 11.64 FGFR2 MMP2 MMP9
13
Show member pathways
11.62 TNF TNFRSF11B TNFSF11
14
Show member pathways
11.55 MMP2 MMP8 MMP9 TNF
15 11.45 MMP2 MMP9 TNF
16 11.31 MMP2 MMP9 TNF
17
Show member pathways
11.06 IL1A MMP2 MMP9 TNF
18 10.78 TNFRSF11B TNFSF11
19 10.7 TNFRSF11B TNFSF11
20 10.58 IL1A TNF TNFRSF11B TNFSF11

GO Terms for Cholesteatoma

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 DEFB1 DEFB4A FGFR2 IL1A MMP2 MMP8
2 proteinaceous extracellular matrix GO:0005578 9.62 MMP2 MMP8 MMP9 TNFRSF11B
3 extracellular matrix GO:0031012 9.56 FGFR2 MMP2 MMP8 MMP9
4 extracellular space GO:0005615 9.36 DEFB1 DEFB4A IL1A KRT10 LGALS8 MMP2
5 intermediate filament GO:0005882 9.35 FLG KRT10 KRT13 KRT14 KRT16

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.72 TNF TNFRSF11B TNFSF11
2 animal organ morphogenesis GO:0009887 9.71 FGFR2 TNF TNFSF11
3 extracellular matrix disassembly GO:0022617 9.67 MMP2 MMP8 MMP9
4 keratinization GO:0031424 9.67 KRT10 KRT13 KRT14 KRT16
5 keratinocyte differentiation GO:0030216 9.65 FLG KRT10 KRT16
6 immune response GO:0006955 9.63 DEFB1 DEFB4A IL1A TNF TNFRSF11B TNFSF11
7 defense response to Gram-positive bacterium GO:0050830 9.61 DEFB1 DEFB4A TNF
8 collagen catabolic process GO:0030574 9.58 MMP2 MMP8 MMP9
9 establishment of skin barrier GO:0061436 9.56 FLG KRT16
10 hair cycle GO:0042633 9.52 KRT14 KRT16
11 regulation of osteoclast differentiation GO:0045670 9.51 TNF TNFSF11
12 skin epidermis development GO:0098773 9.46 FLG KRT10
13 endodermal cell differentiation GO:0035987 9.43 MMP2 MMP8 MMP9
14 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.32 FGFR2 TNF
15 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.13 MMP2 MMP9 TNF
16 cornification GO:0070268 9.02 FLG KRT10 KRT13 KRT14 KRT16

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

id Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.43 MMP2 MMP8 MMP9
2 cytokine activity GO:0005125 9.26 IL1A TNF TNFRSF11B TNFSF11
3 structural constituent of epidermis GO:0030280 9.16 FLG KRT10
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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