Cholesteatoma of Middle Ear disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ 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.

MalaCards based summary: Cholesteatoma of Middle Ear, also known as cholesteatoma, is related to leukoplakia and keratosis, and has symptoms including earache An important gene associated with Cholesteatoma of Middle Ear is F13B (Coagulation Factor XIII B Chain), and among its related pathways/superpathways are Nervous system development and Signaling by Receptor Tyrosine Kinases. The drugs Bupivacaine and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotype is integument.

Disease Ontology: ¹¹ A keratosis that is 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: ⁷⁵ Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

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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 391)

#	Related Disease	Score	Top Affiliating Genes
1	leukoplakia	30.6	KRT13 FLG DEFB4A
2	keratosis	30.6	MMP9 KRT16 KRT14 KRT10 IVL FLG
3	bone inflammation disease	30.5	TNFSF11 MMP9 MIR21 IL1A
4	squamous cell carcinoma	30.0	TGFA MMP9 KRT14 KRT13 IVL EGF
5	papilloma	30.0	TGFA KRT14 KRT13 KRT10 IVL FLG
6	skin squamous cell carcinoma	29.9	MIR21 KRT14 KRT10 IVL
7	periodontitis	29.9	TNFSF11 MMP9 MIR21 IL1A DEFB4A
8	ichthyosis	29.9	KRT16 KRT10 IVL FLG
9	bronchial disease	29.9	MMP9 MIR21 FLG
10	osteoporosis	29.8	TNFSF11 MMP9 MIR21 IL1A FGF2 EGF
11	head and neck cancer	29.8	MMP9 MIRLET7A1 MIR21 EGF
12	dermatitis, atopic	29.8	MIR21 IVL IL1A FLG DEFB4A
13	basal cell carcinoma	29.7	MMP9 KRT16 KRT14 KRT10 IVL
14	epidermolytic hyperkeratosis	29.7	KRT16 KRT14 KRT10 IVL FLG
15	autosomal recessive congenital ichthyosis	29.6	KRT16 KRT14 KRT10 IVL FLG DEFB4A
16	kidney disease	29.5	TNFSF11 S100A8 MIR21 FGF7 FGF2 EGF
17	skin disease	28.9	TGFA S100A8 MMP9 MIRLET7A1 MIR21 KRT16
18	cholesteatoma of external ear	11.5
19	maxillary sinus cholesteatoma	11.4
20	cholesteatoma of attic	11.1
21	otitis media	11.0
22	cholesteatoma, congenital	11.0
23	purulent labyrinthitis	11.0
24	focal labyrinthitis	11.0
25	external auditory canal aplasia/hypoplasia	10.9
26	semicircular canal dehiscence syndrome	10.9
27	otorrhea	10.8
28	bell's palsy	10.8
29	facial paralysis	10.7
30	suppurative otitis media	10.7
31	perilymphatic fistula	10.7
32	glanders	10.7
33	chronic purulent otitis media	10.7
34	sensorineural hearing loss	10.6
35	epidermoid cysts	10.5
36	mastoiditis	10.5
37	middle ear disease	10.4
38	meningitis	10.4
39	cartilage disease	10.4
40	cicatricial lagophthalmos	10.3	IVL FLG
41	periapical periodontitis	10.3	TNFSF11 MMP9 IL1A
42	otosclerosis	10.3
43	labyrinthitis	10.3
44	root resorption	10.3	TNFSF11 MMP9 IL1A
45	eccrine papillary adenoma	10.3	KRT14 KRT10
46	nodular hidradenoma	10.3	KRT14 KRT10
47	bowen's disease	10.3	KRT16 KRT10 IVL
48	eczema herpeticum	10.3	IVL FLG DEFB4A
49	lacrimal apparatus disease	10.3	MMP9 IL1A EGF
50	seborrheic dermatitis	10.3	IL1A FLG DEFB4A

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:

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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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.28	EGF FGF7 IL1A KRT10 KRT14 KRT16

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Drugs & Therapeutics for Cholesteatoma of Middle Ear

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

(show all 12)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Bupivacaine

Approved, Investigational

Phase 2

2180-92-9, 38396-39-3

2474

2

Clonidine

Approved

Phase 2

4205-91-8, 4205-90-7

2803 20179

3

Anesthetics

Phase 2

4

Neurotransmitter Agents

Phase 2

5

Adrenergic alpha-Agonists

Phase 2

6

Adrenergic Agonists

Phase 2

7

Adrenergic Agents

Phase 2

8

Antihypertensive Agents

Phase 2

9

Anesthetics, Local

Phase 2

10

Analgesics

Phase 2

11

Sympatholytics

Phase 2

12

Lidocaine

Approved, Vet_approved

137-58-6

3676

Interventional clinical trials:

(show all 18)

#	Name	Status	NCT ID	Phase	Drugs
1	Great Auricular Nerve Block for Children Undergoing Tympanomastoid Surgery: Does the Addition of Clonidine Increase the Duration of Postoperative Analgesia?	Completed	NCT01638052	Phase 2	0.25% Bupivacaine + Clonidine
2	Evaluation of the Level of Middle Cranial Fossa Dura in Patients With Cholesteatoma	Unknown status	NCT04551612
3	Diffusion Weighted MRI Accuracy in Cholesteatoma Localization	Unknown status	NCT03915392
4	Detection of Cholesteatoma Using Diffusion Magnetic Resonance Imaging	Unknown status	NCT03305796
5	The Serum Sclerostin Levels in Cholesteatoma Patients	Unknown status	NCT03954288
6	Combined Access Closed Tympanomastoidectomy: Microsurgery Allied to Endoscopy	Unknown status	NCT03294421
7	A Cross Sectional Study of Clinicopathologic Behaviour of Primary, Secondary and Mixed Types of Atticoantral Chronic Otitis Media	Unknown status	NCT00270660
8	Usefulness of Non EPI-DWI-MRI / CT 3D Static Co-registration Prior to Surgery of Cholesteatomas	Unknown status	NCT02903550
9	Middle Ear Status in Cholesteatoma: the Associations of Preoperative Computed Tomography Scans, Audiologic Assessment, and Intraoperative Endoscopic Findings	Completed	NCT04672187
10	Optimal Duration of Magnetic Resonance Imaging (MRI) Follow-up to Safely Identify Middle Ear Residual Cholesteatoma	Completed	NCT04489550
11	Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively")	Completed	NCT02554422
12	Magnetic Resonance (MR) Imaging in the Post Operative Follow-up of Cholesteatoma in Children	Completed	NCT00682409
13	Comparison of Clinical Effect Between Endoscopic and Microscopic Ear Surgery of Cholesteatoma: A Multicenter Retrospective Observational Study	Completed	NCT05182268
14	Endoscopic Transcanal Tympanoplasty With Attico-antrostomy Versus Endoscopic-assisted Canal Wall up Mastoidectomy in Management of Localized Cholesteatoma: A Randomized Clinical Trial	Completed	NCT04959539
15	Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans	Completed	NCT02019888
16	Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose	Completed	NCT01855425
17	A Retrospective Mapping of Health Care Utilisation and Current Quality of Life Status in Adult Subjects With a History of Chronic Otitis Media With or Without Cholesteatoma Who Have Undergone a Primary Tympanoplasty	Recruiting	NCT04864912
18	Comparative Study Between Radical Mastoidectomy With and Without Mastoid Obliteration Operations in Pediatric Population	Not yet recruiting	NCT05584891

Search NIH Clinical Center for Cholesteatoma of Middle Ear

Cochrane evidence based reviews: cholesteatoma

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Genetic Tests for Cholesteatoma of Middle Ear

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Anatomical Context for Cholesteatoma of Middle Ear

Organs/tissues related to Cholesteatoma of Middle Ear:

MalaCards : Skin, Brain, Bone, Temporal Lobe, Spinal Cord, Kidney, Salivary Gland

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Publications for Cholesteatoma of Middle Ear

Articles related to Cholesteatoma of Middle Ear:

(show top 50) (show all 6196)

#	Title	Authors	PMID	Year
1	Cholesteatoma growth and proliferation: posttranscriptional regulation by microRNA-21. ⁶² ⁴⁶	Friedland DR...Cioffi JA	19672202	2009
2	Comparison of acquired cholesteatoma between pediatric and adult patients. ⁵³ ⁶²	Dornelles Cde C...Alves SL	19322578	2009
3	Elevated level of tenascin and matrix metalloproteinase 9 correlates with the bone destruction capacity of cholesteatomas. ⁵³ ⁶²	Juhasz A...Balazs M	19395987	2009
4	[Expression of matrix metalloproteinase-2,9 in cholesteatoma from different positions]. ⁵³ ⁶²	Wang J...Yu LS	19484988	2009
5	Laser-assisted cholesteatoma surgery: technical aspects, in vitro implementation and challenge of selective cell destruction. ⁵³ ⁶²	Caffier PP...Sedlmaier B	18253741	2008
6	Topical application of 5-fluorouracil on attic cholesteatoma results in downregulation of keratinocyte growth factor and reduction of proliferative activity. ⁵³ ⁶²	Yamamoto-Fukuda T...Takahashi H	18246360	2008
7	Gelatinolytic activity of matrix metalloproteinases 2 and 9 in middle ear cholesteatoma. ⁵³ ⁶²	Suchozebrska-Jesionek D...Stryjecka-Zimmer M	19128667	2008
8	Establishment and characterization of an in vitro model for cholesteatoma. ⁵³ ⁶²	Raynov AM...Park K	19434278	2008
9	[The expression of receptor activator nuclear factor-kappaB ligand and osteoprotegerin in cholesteatoma]. ⁵³ ⁶²	Ma Y...Ye S	18589796	2008
10	[Expression and significance of HIF-1alpha and iNOS in human middle ear cholesteatoma epithelium]. ⁵³ ⁶²	Zhang E...Gong S	17650819	2007
11	Survival signaling and terminal differentiation in cholesteatoma epithelium. ⁵³ ⁶²	Huisman MA...Grote JJ	17453465	2007
12	[Expression and significance of nuclear factor-kappa B ligand and correlation factor in the tissue of otitis media with cholesteatoma]. ⁵³ ⁶²	Xia M...Xu A	17580719	2007
13	Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma. ⁵³ ⁶²	Song JJ...Hwang SJ	17419529	2007
14	The localization of matrix metalloproteinases-8 and -13 in cholesteatoma, deep-meatal and post-auricular skin: a comparative analysis. ⁵³ ⁶²	Mehta D...Banerjee AR	17364344	2007
15	Comparative cytokeratin distribution patterns in cholesteatoma epithelium. ⁵³ ⁶²	Olszewska E...Sudhoff H	17128409	2007
16	The role of tumor necrosis factor-alpha (TNF-alpha) in bone resorption present in middle ear cholesteatoma. ⁵³ ⁶²	Vitale RF...Ribeiro Fde A	17505610	2007
17	The role of S100A1 in external auditory canal cholesteatoma. ⁵³ ⁶²	Naim R...Hormann K	16969478	2006
18	Expression of RANKL and OPG in middle ear cholesteatoma tissue. ⁵³ ⁶²	Jeong JH...Park YW	16826057	2006
19	Association between human beta defensin expression and cholesteatoma formation. ⁵³ ⁶²	Meyer JE...Maune S	16431059	2006
20	Terminal differentiation and mitogen-activated protein kinase signaling in human cholesteatoma epithelium. ⁵³ ⁶²	Huisman MA...Grote JJ	16639284	2006
21	Characterization of patterns of expression of protein kinase C-alpha, -delta, -eta, -gamma and -zeta and their correlations to p53, galectin-3, the retinoic acid receptor-beta and the macrophage migration inhibitory factor (MIF) in human cholesteatomas. ⁵³ ⁶²	Ghanooni R...Choufani G	16513304	2006
22	[Express of transforming growth factor alpha and beta1 in cholesteatoma tissue]. ⁵³ ⁶²	Li WR...Chen ZN	16874966	2005
23	Cytokeratin expression pattern in congenital and acquired pediatric cholesteatoma. ⁵³ ⁶²	Olszewska E...Sudhoff H	15754169	2005
24	[The expression and significance of human beta-defensin 2 in middle ear cholesteatoma epithelium]. ⁵³ ⁶²	Ren X...Xu M	16001900	2005
25	[Expression of hypoxia-inducible factor-1alpha in middle ear cholesteatoma]. ⁵³ ⁶²	Liu Y...Zhang P	15830692	2005
26	[Detection of the activity of MMP2 and MMP9 in middle ear cholesteatoma]. ⁵³ ⁶²	Wang H...Su J	15620146	2004
27	[The expressions and correlations of RAR-beta receptors and galectin-8 in human middle ear cholesteatoma]. ⁵³ ⁶²	Peng L...Liu A	15499989	2004
28	[The expression of matrix metalloproteinase-9 and tumor necrosis factor-alpha in cholesteatoma]. ⁵³ ⁶²	Li N...Dong M	15499988	2004
29	Epidermal growth factor expression in middle ear cholesteatoma. ⁵³ ⁶²	Chi HP...Tsai SM	15481560	2004
30	Immunohistochemical investigations on external auditory canal cholesteatomas. ⁵³ ⁶²	Adamczyk M...Jahnke K	14501442	2003
31	Expression of hypoxia inducible factor 1 alpha and Von Hippel Lindau protein in human middle ear cholesteatoma. ⁵³ ⁶²	Adunka O...Kierner AC	12838021	2003
32	Gene expression analysis of human middle ear cholesteatoma using complementary DNA arrays. ⁵³ ⁶²	Tokuriki M...Saito H	12792315	2003
33	Osteoclast stimulating and differentiating factors in human cholesteatoma. ⁵³ ⁶²	Hamzei M...Sudhoff H	12616193	2003
34	Possible involvement of keratinocyte growth factor and its receptor in enhanced epithelial-cell proliferation and acquired recurrence of middle-ear cholesteatoma. ⁵³ ⁶²	Yamamoto-Fukuda T...Koji T	12533693	2003
35	[Possible role of transforming growth factor alpha on the cholesteatoma growth regulation]. ⁵³ ⁶²	Xu Y...Jin K	12725186	2003
36	Expression of beta-defensins in human middle ear cholesteatoma. ⁵³ ⁶²	Park K...Choi HS	12701748	2003
37	[Expression of transforming growth factor-beta 1 matrix metalloproteinase-1 and its inhibitor in human middle ear cholesteatoma]. ⁵³ ⁶²	Yang X...Wang B	12768723	2002
38	[The expression of matrix metalloproteinase-1 and interleukin-1-alpha messenger ribonucleic acid in human middle ear cholesteatoma]. ⁵³ ⁶²	Liu J...Jiang Z	12768791	2002
39	Up-regulation of matrix metalloprotease-9 in middle ear cholesteatoma--correlations with growth factor expression in vivo? ⁵³ ⁶²	Schmidt M...Hoppe F	11769995	2001
40	The levels of retinoid RARbeta receptors correlate with galectin-1, -3 and -8 expression in human cholesteatomas. ⁵³ ⁶²	Simon P...Darro F	11377877	2001
41	The levels of expression of galectin-3, but not of galectin-1 and galectin-8, correlate with apoptosis in human cholesteatomas. ⁵³ ⁶²	Sheikholeslam-Zadeh R...Choufani G	11404618	2001
42	[Expression of matrix metalloproteinasa-2,9 in cholesteatoma and middle ear cancer]. ⁵³ ⁶²	Zhu W...Wang P	12761978	2001
43	Angiogenesis and angiogenic growth factors in middle ear cholesteatoma. ⁵³ ⁶²	Sudhoff H...Ryan AF	11078065	2000
44	Acquired and congenital cholesteatoma: determination of tumor necrosis factor-alpha, intercellular adhesion molecule-1, interleukin-1-alpha and lymphocyte functional antigen-1 in the inflammatory process. ⁵³ ⁶²	Akimoto R...Baba S	10965261	2000
45	Stromal expression of matrix metalloprotease-9 in middle ear cholesteatomas. ⁵³ ⁶²	Shibosawa E...Takahashi S	10993447	2000
46	Induction of matrix metalloproteinases in keratinocytes by cholesteatoma debris and granulation tissue extracts. ⁵³ ⁶²	Schmidt M...Hoppe F	11073191	2000
47	Evaluation of proliferative activity in middle ear cholesteatoma using proliferating cell nuclear antigen. ⁵³ ⁶²	Shieh TJ...Juan KH	10518363	1999
48	Role of Bcl-xL protein in differentiation and apoptosis of human middle ear cholesteatoma epithelium. ⁵³ ⁶²	Kojima H...Moriyama H	10406309	1999
49	Roles of cytokines and cell cycle regulating substances in proliferation of cholesteatoma epithelium. ⁵³ ⁶²	Tanaka Y...Moriyama H	10401849	1999
50	Transforming growth factor-alpha and rhinitis. ⁵³ ⁶²	Lam SM...Ahn JM	10401853	1999

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Genes for Cholesteatoma of Middle Ear

Genes related to Cholesteatoma of Middle Ear (2 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	F13B	Coagulation Factor XIII B Chain	Protein Coding	400	Pathogenic ⁵
2	MIR21	MicroRNA 21	RNA Gene	362.69	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ ¹⁴	19672202
3	TGFA	Transforming Growth Factor Alpha	Protein Coding	25.22	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	9850316 8484481 8369082 (more) 9378670 8817015 10401853 12725186 14501442 11078065 8172304 16874966 7684226
4	RABGAP1L	RAB GTPase Activating Protein 1 Like	Protein Coding	25	Likely pathogenic ⁵
5	IL1A	Interleukin 1 Alpha	Protein Coding	23.89	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7931803 8725537 8369082 (more) 7503375 1384343 8583857 12768791 9655214 10401849 11769995 1416650 10965261 8962724 9115708 1616549
6	KRT13	Keratin 13	Protein Coding	23.67	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7510866 7685977 19434278
7	IVL	Involucrin	Protein Coding	22.35	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	8588655 16639284 17453465 (more) 1697471 10406309
8	DEFB4A	Defensin Beta 4A	Protein Coding	20.61	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16431059 17419529 16001900 (more) 12701748
9	MMP9	Matrix Metallopeptidase 9	Protein Coding	19.69	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	15499988 10993447 19128667 (more) 9762497 15620146 19395987 11073191 19484988 12761978 11769995 19322578 8790747
10	MIRLET7A1	MicroRNA Let-7a-1	RNA Gene	19.51	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
11	TNFSF11	TNF Superfamily Member 11	Protein Coding	19.16	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16826057 12616193 18589796 (more) 17580719 17505610
12	FGF7	Fibroblast Growth Factor 7	Protein Coding	17.61	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	9349868 12533693 8630209 (more) 18246360 10401849
13	LGALS8	Galectin 8	Protein Coding	17.6	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11404618 11568623
14	KRT16	Keratin 16	Protein Coding	16.86	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7685977 1281411 1280020
15	KRT10	Keratin 10	Protein Coding	16.39	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	18253741 7521107
16	EGF	Epidermal Growth Factor	Protein Coding	14.87	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	15481560 7976315
17	FGF2	Fibroblast Growth Factor 2	Protein Coding	14.34	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11078065
18	S100A8	S100 Calcium Binding Protein A8	Protein Coding	13.05	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12792315 7888019
19	FLG	Filaggrin	Protein Coding	12.94	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7521107 8588655 17453465
20	KRT14	Keratin 14	Protein Coding	12.72	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	18253741 15754169
21	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	12.53	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7526720
22	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	12.43	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12533693 9349868
23	MMP1	Matrix Metallopeptidase 1	Protein Coding	11.55	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12768791 9884804 12768723
24	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	11.11	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	17650819 12838021 15830692
25	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	10.56	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7475882 8891480
26	S100A1	S100 Calcium Binding Protein A1	Protein Coding	10.07	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16969478 12653951
27	DEFB1	Defensin Beta 1	Protein Coding	9.99	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16431059 12701748
28	MMP3	Matrix Metallopeptidase 3	Protein Coding	9.98	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	9884804 11568623 8790747
29	TNF	Tumor Necrosis Factor	Protein Coding	9.83	DISEASES inferred ¹⁴ ¹⁴
30	GJB2	Gap Junction Protein Beta 2	Protein Coding	9.55	DISEASES inferred ¹⁴ ¹⁴
31	SPRR1B	Small Proline Rich Protein 1B	Protein Coding	9.51	DISEASES inferred ¹⁴ ¹⁴
32	IL6	Interleukin 6	Protein Coding	9.49	DISEASES inferred ¹⁴ ¹⁴
33	CDH18	Cadherin 18	Protein Coding	9.4	DISEASES inferred ¹⁴ ¹⁴
34	MMP2	Matrix Metallopeptidase 2	Protein Coding	9.3	DISEASES inferred ¹⁴ ¹⁴
35	EREG	Epiregulin	Protein Coding	9.29	DISEASES inferred ¹⁴ ¹⁴

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Variations for Cholesteatoma of Middle Ear

ClinVar genetic disease variations for Cholesteatoma of Middle Ear:

⁵

#	Gene	Name	Type	Significance	ClinVarId	Position
1	F13B	NM_001994.3(F13B):c.1505C>G (p.Ser502Cys)	SNV	Pathogenic	1322006	GRCh37: 1:197021814-197021814 GRCh38: 1:197052684-197052684
2	RABGAP1L	NM_001366446.1(RABGAP1L):c.-34+24490G>A	SNV	Likely Pathogenic	1322005	GRCh37: 1:174153285-174153285 GRCh38: 1:174184147-174184147
3	F5	NM_000130.5(F5):c.5599+261A>G	SNV	Uncertain Significance	1322001	GRCh37: 1:169496892-169496892 GRCh38: 1:169527654-169527654
4	F5	NM_000130.5(F5):c.5509C>A (p.Gln1837Lys)	SNV	Uncertain Significance	1322002	GRCh37: 1:169497243-169497243 GRCh38: 1:169528005-169528005
5	ZBTB37	NM_001122770.3(ZBTB37):c.*17408A>C	SNV	Uncertain Significance	1322003	GRCh37: 1:173872670-173872670 GRCh38: 1:173903532-173903532
6	ZBTB37	NM_001122770.3(ZBTB37):c.*17411G>A	SNV	Likely Benign	1322004	GRCh37: 1:173872673-173872673 GRCh38: 1:173903535-173903535

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Expression for Cholesteatoma of Middle Ear

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

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Pathways for Cholesteatoma of Middle Ear

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

(show all 19)

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.54	MMP9 KRT16 KRT14 KRT13 KRT10 IVL
2	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.61	TGFA MMP9 FGF7 FGF2 EGF
3	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.45	TGFA IL1A FGF7 FGF2 EGF
4	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.44	EGF FGF2 FGF7 IL1A TGFA
5	Malignant pleural mesothelioma ⁷⁴	12.41	TGFA MMP9 FGF7 FGF2 EGF
6	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.26	TNFSF11 FGF7 FGF2 EGF
7	MAPK signaling pathway ⁷⁴	12.17	IL1A FGF7 FGF2 EGF
8	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.97	KRT16 KRT14 KRT13 KRT10 IVL FLG
9	Vitamin D receptor pathway ⁷⁴	11.82	TNFSF11 S100A8 KRT16 KRT13 DEFB4A
10	Interleukin-4 and Interleukin-13 signaling ⁶⁶	11.76	MMP9 IL1A FGF2
11	Angiogenesis (CST) ³	11.64	TGFA MMP9 FGF2
12	G-protein signaling_RhoA regulation pathway ²²	11.55	TGFA FGF7 FGF2 EGF
13	Burn wound healing ⁷⁴	11.51	EGF FLG MMP9
14	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.43	TGFA MMP9 EGF
15	Pluripotent stem cell differentiation pathway ⁷⁴	11.23	TNFSF11 FGF2 EGF
16	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	11.13	FGF7 FGF2 EGF
17	Angiogenesis (WikiPathways) ⁷⁴	10.86	MMP9 FGF2
18	Lung fibrosis ⁷⁴	10.82	TGFA MMP9 FGF7 FGF2 EGF
19	G-protein signaling_Rap2B regulation pathway ²²	10.64	TNFSF11 TGFA IL1A FGF7 FGF2 EGF

Sources

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 region	GO:0005576	10.18	TNFSF11 TGFA S100A8 MMP9 KRT10 IL1A
2	intermediate filament	GO:0005882	9.8	KRT16 KRT14 KRT13 KRT10
3	extracellular space	GO:0005615	9.74	TNFSF11 TGFA S100A8 MMP9 MIRLET7A1 MIR21
4	cornified envelope	GO:0001533	9.65	FLG IVL KRT10 KRT14 KRT16

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	10.3	TNFSF11 MIR21 IL1A FGF7 FGF2 EGF
2	ERK1 and ERK2 cascade	GO:0070371	10.06	TNFSF11 FGF2 EGF
3	positive regulation of protein kinase B signaling	GO:0051897	10.05	TNFSF11 MIR21 FGF2 EGF
4	positive chemotaxis	GO:0050918	10.02	DEFB4A FGF2 FGF7
5	epithelial cell differentiation	GO:0030855	10.01	KRT16 KRT14 KRT13 KRT10
6	wound healing	GO:0042060	9.98	TGFA S100A8 IL1A FGF2
7	positive regulation of MAP kinase activity	GO:0043406	9.97	TNFSF11 TGFA FGF2 EGF
8	positive regulation of vascular associated smooth muscle cell proliferation	GO:1904707	9.93	FGF2 MIR21 MMP9
9	positive regulation of mitotic nuclear division	GO:0045840	9.93	EGF IL1A TGFA
10	epithelial cell proliferation	GO:0050673	9.9	FGF7 FGF2 EGF
11	cerebellar granule cell precursor proliferation	GO:0021930	9.89	FGF2 EGF
12	ERBB2-EGFR signaling pathway	GO:0038134	9.88	TGFA EGF
13	paracrine signaling	GO:0038001	9.87	TNFSF11 FGF2
14	positive regulation of epithelial cell proliferation	GO:0050679	9.87	EGF FGF2 FGF7 TGFA
15	positive regulation of epithelial tube formation	GO:1905278	9.83	FGF2 EGF
16	lymphatic endothelial cell migration	GO:1904977	9.8	LGALS8 FGF2
17	positive regulation of cerebellar granule cell precursor proliferation	GO:0021940	9.78	FGF2 EGF
18	positive regulation of cell division	GO:0051781	9.76	TGFA IL1A FGF7 FGF2
19	mammary gland alveolus development	GO:0060749	9.73	TNFSF11 TGFA EGF
20	peptide cross-linking	GO:0018149	9.56	KRT10 IVL FLG F13B
21	keratinocyte differentiation	GO:0030216	9.32	KRT16 KRT14 KRT10 IVL FLG

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	9.76	TGFA FGF7 FGF2 EGF
2	chemoattractant activity	GO:0042056	9.43	FGF7 FGF2 DEFB4A
3	structural molecule activity	GO:0005198	9.1	KRT16 KRT14 KRT13 KRT10 FLG

Sources

Sources for Cholesteatoma of Middle Ear

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHL122 MIFTS: 52	Cholesteatoma of Middle Ear Categories: Ear diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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