MCID: CHL122
MIFTS: 41

Cholesteatoma of Middle Ear

Categories: Rare diseases, Ear 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:



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
Among the microRNAs investigated, human microRNA-21 (hsa-miR-21) showed a 4.4-fold higher expression in cholesteatoma as compared with normal skin (p = 0.0011). The downstream targets of hsa-miR-21, PTEN and programmed cell death 4, were found to be greatly reduced in 3 of 4 cholesteatoma samples. Proposed upstream regulators of hsa-miR-21 expression (CD14, interleukin 6R, gp130, and signal transducer and activator of transcription 3) were present in all cholesteatoma tissues. CONCLUSION:: MicroRNAs represent powerful regulators of protein translation, and their dysregulation has been implicated in many neoplastic diseases. This study specifically identified up-regulation of hsa-miR-21 concurrent with down-regulation of potent tumor suppressor proteins PTEN and programmed cell death 4. These proteins control aspects of apoptosis, proliferation, invasion, and migration. The results of this study were used to develop a model for cholesteatoma proliferation through microRNA dysregulation. This model can serve as a template for further study into potential RNA-based therapies for the treatment of cholesteatoma.), and among its related pathways/superpathways are Akt Signaling and Developmental Biology. Affiliated tissues include skin, brain and bone, and related phenotypes are integument and digestive/alimentary

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 129)
# Related Disease Score Top Affiliating Genes
1 papilloma 29.4 FLG KRT10 KRT13
2 orofacial cleft 28.5 FGF2 FGFR2 TGFA
3 cholesteatoma of external ear 12.4
4 maxillary sinus cholesteatoma 12.3
5 cholesteatoma of attic 12.0
6 cholesteatoma, congenital 11.9
7 focal labyrinthitis 11.2
8 purulent labyrinthitis 10.9
9 chronic follicular conjunctivitis 10.8 IL1A MMP9
10 villonodular synovitis 10.6 MMP9 TNFSF11
11 tinea corporis 10.5 DEFB4A KRT16
12 otitis media 10.5
13 jaw cancer 10.5 IL1A TNFSF11
14 oral cancer 10.5 KRT13 MIR21 MMP9
15 gingivitis 10.5 DEFB4A IL1A MMP9
16 acanthoma 10.5 FGFR2 KRT10
17 steatocystoma multiplex 10.4 KRT10 KRT16
18 bowen's disease 10.4 KRT10 KRT16
19 squamous cell carcinoma of the oral tongue 10.4 KRT10 KRT16
20 mastoiditis 10.4
21 chronic actinic dermatitis 10.4 FLG MMP9
22 periodontitis 10.4 IL1A MMP9 TNFSF11
23 pigmented villonodular synovitis 10.4 MMP9 TNFSF11
24 suppurative otitis media 10.3
25 white sponge nevus 1 10.3 KRT10 KRT13 KRT16
26 anal fistula 10.3 DEFB4A EGF MMP9
27 sebaceous gland disease 10.2 DEFB4A IL1A
28 perilymphatic fistula 10.2
29 filamentary keratitis 10.2 FLG KRT10
30 folliculitis 10.2 DEFB4A EGF
31 periodontal disease 10.1 DEFB4A IL1A MMP9 TNFSF11
32 irritant dermatitis 10.1 FLG IL1A KRT16
33 breast adenocarcinoma 10.1 EGF MMP9 TNFSF11
34 herpes simplex virus keratitis 10.0 ICAM1 LGALS8
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
36 diverticulitis 10.0 FGF2 MMP9
37 discoid lupus erythematosus 10.0 FLG KRT10 KRT16
38 thrombosis 10.0
39 facial paralysis 10.0
40 labyrinthitis 10.0
41 pachyonychia congenita 1 10.0 FLG KRT10 KRT16
42 keratoacanthoma 10.0 FLG KRT10 KRT16
43 epidermolytic hyperkeratosis 9.9 FLG KRT10 KRT16
44 mucositis 9.9
45 tympanosclerosis 9.9
46 limbal stem cell deficiency 9.9 ICAM1 IL1A KRT13
47 cleft palate, isolated 9.9
48 epidermoid cysts 9.9
49 fibrous dysplasia 9.9
50 keratosis 9.9

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
Skin, Brain, Bone

Publications for Cholesteatoma of Middle Ear

Articles related to Cholesteatoma of Middle Ear:

# Title Authors Year
1
Diagnosis of cholesteatoma of middle ear. ( 13210375 )
1954

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 EGF FGF2 FGFR2 IL1A TGFA TNFSF11
2
Show member pathways
13.18 EGF FGF2 FGFR2 FLG KRT10 KRT13
3
Show member pathways
13.15 EGF FGF2 FGFR2 ICAM1 IL1A MMP9
4
Show member pathways
13.13 EGF FGF2 FGFR2 IL1A TGFA TNFSF11
5
Show member pathways
12.87 KRT10 KRT13 KRT16 MMP9 TGFA
6 12.68 EGF FGF2 FGFR2 MMP9 TGFA
7
Show member pathways
12.6 EGF FGF2 FGFR2 MMP9 TGFA
8 12.59 EGF FGF2 FGFR2 IL1A TGFA
9
Show member pathways
12.57 EGF FGF2 FGFR2 TGFA
10
Show member pathways
12.57 EGF FGF2 FGFR2 TGFA TNFSF11
11
Show member pathways
12.49 EGF FGF2 FGFR2 IL1A TGFA
12
Show member pathways
12.33 FLG KRT10 KRT13 KRT16
13
Show member pathways
12.01 EGF FGF2 FGFR2
14 11.92 ICAM1 IL1A MMP9
15 11.88 EGF FGF2 FGFR2 TGFA
16 11.85 ICAM1 IL1A MMP9
17 11.7 ICAM1 IL1A TNFSF11
18 11.68 FGF2 ICAM1 IL1A MMP9
19
Show member pathways
11.52 ICAM1 IL1A MMP9
20
Show member pathways
11.45 EGF FGF2 FGFR2 ICAM1 IL1A TGFA
21 11.41 FGF2 FGFR2 MMP9 TGFA
22 11.31 EGF FGF2 TNFSF11
23 11.23 EGF FGF2 FGFR2
24 11.02 ICAM1 MMP9
25 10.81 FGF2 FGFR2 MMP9
26 10.72 EGF FGF2 MMP9 TGFA

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 9.86 EGF ICAM1 KRT10 KRT13 KRT16 LGALS8
2 extracellular region GO:0005576 9.76 DEFB4A EGF FGF2 FGFR2 IL1A MMP9
3 extracellular space GO:0005615 9.36 DEFB4A EGF FGF2 ICAM1 IL1A KRT10
4 intermediate filament GO:0005882 9.26 FLG KRT10 KRT13 KRT16

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 EGF FGF2 FGFR2 MIR21 TGFA
2 angiogenesis GO:0001525 9.8 EGF FGF2 FGFR2 TGFA
3 cytokine-mediated signaling pathway GO:0019221 9.8 FGF2 ICAM1 IL1A MMP9 TNFSF11
4 positive regulation of angiogenesis GO:0045766 9.79 FGF2 IL1A MIR21
5 animal organ morphogenesis GO:0009887 9.77 FGF2 FGFR2 TNFSF11
6 activation of MAPK activity GO:0000187 9.76 EGF FGF2 TGFA
7 phosphatidylinositol phosphorylation GO:0046854 9.74 EGF FGF2 FGFR2
8 wound healing GO:0042060 9.73 FGF2 FGFR2 TGFA
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.72 EGF ICAM1 TGFA
10 keratinocyte differentiation GO:0030216 9.7 FLG KRT10 KRT16
11 cornification GO:0070268 9.67 FLG KRT10 KRT13 KRT16
12 positive regulation of MAP kinase activity GO:0043406 9.65 EGF FGF2 TNFSF11
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.65 FGF2 FGFR2 ICAM1 IL1A MIR21
14 positive regulation of vascular endothelial cell proliferation GO:1905564 9.61 FGF2 MIR21
15 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.61 FGF2 MIR21 MMP9
16 establishment of skin barrier GO:0061436 9.6 FLG KRT16
17 response to copper ion GO:0046688 9.58 ICAM1 IL1A
18 positive regulation of epidermal growth factor-activated receptor activity GO:0045741 9.54 EGF TGFA
19 positive regulation of mitotic nuclear division GO:0045840 9.5 EGF IL1A TGFA
20 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.46 ICAM1 MIR21
21 positive regulation of protein kinase B signaling GO:0051897 9.35 EGF FGF2 FGFR2 MIR21 TNFSF11
22 mammary gland alveolus development GO:0060749 9.33 EGF TGFA TNFSF11
23 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 9.54 EGF FGF2 TGFA
2 integrin binding GO:0005178 9.43 FGF2 ICAM1 LGALS8
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 EGF FGF2 FGFR2
4 structural constituent of epidermis GO:0030280 9.32 FLG KRT10
5 structural molecule activity GO:0005198 9.26 FLG KRT10 KRT13 KRT16
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 EGF FGF2 FGFR2

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
Content
Loading form....