Deafness, Aminoglycoside-Induced disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Aminoglycoside-Induced

MalaCards integrated aliases for Deafness, Aminoglycoside-Induced:

Name: Deafness, Aminoglycoside-Induced ⁵⁷ ⁴⁰ ⁷³

Deafness, Mitochondrial, Modifier of ⁵⁷ ¹³ ⁶

Aminoglycoside-Induced Deafness ²⁹ ⁶

Mitochondrial Non-Syndromic Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Non-Syndromic Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Non-Syndromic Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Isolated Sensorineural Hearing Loss with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Non-Syndromic Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Isolated Neurosensory Hearing Loss with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Isolated Sensorineural Deafness with Susceptibility to Aminoglycoside Exposure ⁵⁹

Mitochondrial Isolated Neurosensory Deafness with Susceptibility to Aminoglycoside Exposure ⁵⁹

Deafness, Streptomycin-Induced ⁵⁷

Streptomycin Ototoxicity ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Inheritance: Mitochondrial inheritance; Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
mitochondrial

HPO:

³²

deafness, aminoglycoside-induced:
Inheritance mitochondrial inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 580000

Orphanet ⁵⁹ ORPHA168609

MedGen ⁴² C1838854

UMLS ⁷³ C1838854

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Summaries for Deafness, Aminoglycoside-Induced

OMIM : ⁵⁷ The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin. (580000)

MalaCards based summary : Deafness, Aminoglycoside-Induced, also known as deafness, mitochondrial, modifier of, is related to myopathy, lactic acidosis, and sideroblastic anemia and mutism. An important gene associated with Deafness, Aminoglycoside-Induced is MT-RNR1 (Mitochondrially Encoded 12S RNA). Related phenotype is aminoglycoside-induced hearing loss.

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Related Diseases for Deafness, Aminoglycoside-Induced

Diseases related to Deafness, Aminoglycoside-Induced via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	myopathy, lactic acidosis, and sideroblastic anemia	10.0	MT-ND4 TRMU
2	mutism	9.9
3	cloacal exstrophy	9.9
4	myelocystocele	9.9
5	sparganosis	9.9	MT-CO1 MT-ND4
6	cercarial dermatitis	9.9	MT-CO1 MT-ND4
7	leber optic atrophy	9.8	MT-CO1 MT-ND4
8	familial colorectal cancer	9.8	MT-CO1 MT-ND4
9	kearns-sayre syndrome	9.8	MT-CO1 MT-ND4
10	mitochondrial encephalomyopathy	9.8	MT-CO1 MT-ND4
11	mitochondrial myopathy	9.7	MT-CO1 MT-ND4
12	leber hereditary optic neuropathy	9.6	MT-CO1 MT-ND4
13	mitochondrial disorders	9.4	MT-ND4 MT-TS1
14	nonsyndromic deafness	9.3	MT-RNR1 MT-TS1
15	mitochondrial complex i deficiency	9.2	MT-CO1 MT-ND4
16	myoclonic epilepsy associated with ragged-red fibers	9.1	MT-ND4 MT-RNR1 MT-TS1
17	hereditary hearing loss and deafness	9.0	MT-CO1 MT-RNR1 MT-TS1
18	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	8.9	MT-CO1 MT-ND4 MT-TS1
19	mitochondrial non-syndromic sensorineural deafness	8.4	MT-CO1 MT-RNR1 MT-TS1 TRMU
20	deafness, nonsyndromic sensorineural, mitochondrial	8.4	MT-CO1 MT-ND4 MT-RNR1 MT-TS1

Graphical network of the top 20 diseases related to Deafness, Aminoglycoside-Induced:

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Symptoms & Phenotypes for Deafness, Aminoglycoside-Induced

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
hearing loss, aminoglycoside-induced

Metabolic Features:
streptomycin ototoxicity

Clinical features from OMIM:

580000

Human phenotypes related to Deafness, Aminoglycoside-Induced:

³²

#	Description	HPO Frequency	HPO Source Accession
1	aminoglycoside-induced hearing loss ³²		HP:0011975

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Drugs & Therapeutics for Deafness, Aminoglycoside-Induced

Search Clinical Trials , NIH Clinical Center for Deafness, Aminoglycoside-Induced

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Genetic Tests for Deafness, Aminoglycoside-Induced

Genetic tests related to Deafness, Aminoglycoside-Induced:

#	Genetic test	Affiliating Genes
1	Aminoglycoside-Induced Deafness ²⁹	TRMU MT-TS1

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Anatomical Context for Deafness, Aminoglycoside-Induced

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Publications for Deafness, Aminoglycoside-Induced

Articles related to Deafness, Aminoglycoside-Induced:

#	Title	Authors	Year
1	A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. ( 19144107 )	Bardien S....de Jong G.	2009
2	Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. ( 10661905 )	Nye J.S....Pandya A.	2000

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Genes for Deafness, Aminoglycoside-Induced

Genes related to Deafness, Aminoglycoside-Induced (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MT-RNR1	Mitochondrially Encoded 12S RNA	RNA Gene	775	Pathogenic ⁶ Causative germline mutation ⁵⁹ Drug response ⁶	10220138 7550368 10326749 (more) 20301595 20301607 14681830 16380089 16650816 16782057 18261986 11079536 11313749 15555598 15637703 16528519 18983818
2	TRMU	TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase	Protein Coding	675	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Modifying germline mutation ⁵⁹
3	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	350	Causative germline mutation ⁵⁹
4	MT-TS1	Mitochondrially Encoded TRNA Serine 1 (UCN)	RNA Gene	125	Genetic Tests ²⁹ Candidate gene tested ⁵⁹
5	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	25	Modifying germline mutation ⁵⁹

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Variations for Deafness, Aminoglycoside-Induced

ClinVar genetic disease variations for Deafness, Aminoglycoside-Induced:

⁶

(show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh37	Chromosome MT, 1555: 1555
2	MT-CO1; MT-RNR1	m.1555A> G	single nucleotide variant	drug response	rs267606617	GRCh38	Chromosome MT, 1555: 1555
3	MT-RNR1	m.961delTinsC(2_7)	indel	Pathogenic		GRCh37	Chromosome MT, 961: 961
4	MT-RNR1	m.961delTinsC(2_7)	indel	Pathogenic		GRCh38	Chromosome MT, 961: 961
5	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh37	Chromosome MT, 1095: 1095
6	MT-RNR1	m.1095T> C	single nucleotide variant	drug response	rs267606618	GRCh38	Chromosome MT, 1095: 1095
7	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh37	Chromosome MT, 1494: 1494
8	MT-RNR1	m.1494C> T	single nucleotide variant	drug response	rs267606619	GRCh38	Chromosome MT, 1494: 1494
9	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh37	Chromosome MT, 827: 827
10	MT-RNR1	m.827A> G	single nucleotide variant	Pathogenic	rs28358569	GRCh38	Chromosome MT, 827: 827
11	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh37	Chromosome MT, 7444: 7444
12	MT-CO1; MT-TS1	m.7444G> A	single nucleotide variant	Pathogenic	rs199474822	GRCh38	Chromosome MT, 7444: 7444

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Expression for Deafness, Aminoglycoside-Induced

Search GEO for disease gene expression data for Deafness, Aminoglycoside-Induced.

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Pathways for Deafness, Aminoglycoside-Induced

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GO Terms for Deafness, Aminoglycoside-Induced

Cellular components related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	respiratory chain	GO:0070469	8.62	MT-CO1 MT-ND4

Biological processes related to Deafness, Aminoglycoside-Induced according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	aging	GO:0007568	9.26	MT-CO1 MT-ND4
2	cerebellum development	GO:0021549	9.16	MT-CO1 MT-ND4
3	aerobic respiration	GO:0009060	8.96	MT-CO1 MT-ND4
4	electron transport coupled proton transport	GO:0015990	8.62	MT-CO1 MT-ND4

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Sources for Deafness, Aminoglycoside-Induced

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