MCID: TYM002
MIFTS: 25

Tympanic Membrane Disease

Categories: Ear diseases

Aliases & Classifications for Tympanic Membrane Disease

MalaCards integrated aliases for Tympanic Membrane Disease:

Name: Tympanic Membrane Disease 12 15 17
Disorder of Tympanic Membrane 74

Classifications:



External Ids:

Disease Ontology 12 DOID:5782
ICD9CM 36 384.9
SNOMED-CT 69 21426000
UMLS 74 C0041825

Summaries for Tympanic Membrane Disease

MalaCards based summary : Tympanic Membrane Disease, also known as disorder of tympanic membrane, is related to myringitis bullosa hemorrhagica and tympanosclerosis, and has symptoms including tinnitus, earache and paracousis. An important gene associated with Tympanic Membrane Disease is BCAT2 (Branched Chain Amino Acid Transaminase 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and ECM-receptor interaction. Related phenotypes are mortality/aging and embryo

Related Diseases for Tympanic Membrane Disease

Diseases related to Tympanic Membrane Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myringitis bullosa hemorrhagica 11.2
2 tympanosclerosis 9.7 COL2A1 COL4A1
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6 COL4A1 NOTCH1
4 autosomal dominant disease 9.5 COL2A1 COL4A1

Symptoms & Phenotypes for Tympanic Membrane Disease

UMLS symptoms related to Tympanic Membrane Disease:


tinnitus, earache, paracousis, dysacusis

MGI Mouse Phenotypes related to Tympanic Membrane Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.63 ATP7A BCAT2 COL2A1 COL4A1 MTFMT NOTCH1
2 embryo MP:0005380 9.56 ATP7A COL2A1 COL4A1 NOTCH1
3 renal/urinary system MP:0005367 9.35 ATP7A BCAT2 COL2A1 COL4A1 NOTCH1
4 respiratory system MP:0005388 8.92 ATP7A COL2A1 COL4A1 NOTCH1

Drugs & Therapeutics for Tympanic Membrane Disease

Search Clinical Trials , NIH Clinical Center for Tympanic Membrane Disease

Genetic Tests for Tympanic Membrane Disease

Anatomical Context for Tympanic Membrane Disease

Publications for Tympanic Membrane Disease

Articles related to Tympanic Membrane Disease:

# Title Authors Year
1
Quantitative analysis of tympanic membrane disease using video-otoscopy. ( 11037834 )
2000

Variations for Tympanic Membrane Disease

Expression for Tympanic Membrane Disease

Search GEO for disease gene expression data for Tympanic Membrane Disease.

Pathways for Tympanic Membrane Disease

Pathways related to Tympanic Membrane Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 COL2A1 COL4A1 NOTCH1
2
Show member pathways
11.5 COL2A1 COL4A1
3 11.23 COL2A1 COL4A1
4 10.96 COL2A1 NOTCH1
5 10.41 COL2A1 COL4A1

GO Terms for Tympanic Membrane Disease

Cellular components related to Tympanic Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.96 COL2A1 COL4A1
2 collagen trimer GO:0005581 8.62 COL2A1 COL4A1

Biological processes related to Tympanic Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.46 ATP7A NOTCH1
2 cartilage development GO:0051216 9.43 ATP7A COL2A1
3 negative regulation of catalytic activity GO:0043086 9.4 ATP7A NOTCH1
4 positive regulation of epithelial cell proliferation GO:0050679 9.37 ATP7A NOTCH1
5 cellular response to amino acid stimulus GO:0071230 9.32 ATP7A COL4A1
6 collagen fibril organization GO:0030199 9.26 ATP7A COL2A1
7 hair follicle morphogenesis GO:0031069 9.16 ATP7A NOTCH1
8 regulation of gene expression GO:0010468 9.13 ATP7A COL2A1 NOTCH1
9 extracellular matrix organization GO:0030198 8.8 ATP7A COL2A1 COL4A1

Molecular functions related to Tympanic Membrane Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.16 COL2A1 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL2A1 COL4A1
3 platelet-derived growth factor binding GO:0048407 8.62 COL2A1 COL4A1

Sources for Tympanic Membrane Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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