MCID: MTC196
MIFTS: 14

Mitochondrial Disease with Epilepsy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Disease with Epilepsy

MalaCards integrated aliases for Mitochondrial Disease with Epilepsy:

Name: Mitochondrial Disease with Epilepsy 59
Epilepsy, Mitochondrial 6

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA225700

Summaries for Mitochondrial Disease with Epilepsy

MalaCards based summary : Mitochondrial Disease with Epilepsy, also known as epilepsy, mitochondrial, is related to epilepsy and early myoclonic encephalopathy. An important gene associated with Mitochondrial Disease with Epilepsy is MT-TF (Mitochondrially Encoded TRNA-Phe (UUU/C)). The drug Cysteamine has been mentioned in the context of this disorder. Affiliated tissues include temporal lobe.

Related Diseases for Mitochondrial Disease with Epilepsy

Diseases related to Mitochondrial Disease with Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 epilepsy 10.1
2 early myoclonic encephalopathy 10.1
3 temporal lobe epilepsy 10.1
4 mitochondrial metabolism disease 10.0
5 mitochondrial disorders 10.0
6 myoclonic epilepsy associated with ragged-red fibers 9.9
7 status epilepticus 9.9
8 encephalopathy 9.9
9 myoclonus 9.9
10 visual epilepsy 9.8
11 seizure disorder 9.8
12 cardiac conduction defect 9.7
13 mitochondrial complex i deficiency, nuclear type 1 9.7
14 myoglobinuria, recurrent 9.7
15 major depressive disorder 9.7
16 west syndrome 9.7
17 hellp syndrome 9.7
18 mental depression 9.7
19 neuromuscular disease 9.7
20 mitochondrial encephalomyopathy 9.7
21 depression 9.7

Graphical network of the top 20 diseases related to Mitochondrial Disease with Epilepsy:



Diseases related to Mitochondrial Disease with Epilepsy

Symptoms & Phenotypes for Mitochondrial Disease with Epilepsy

Drugs & Therapeutics for Mitochondrial Disease with Epilepsy

Drugs for Mitochondrial Disease with Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate

Search NIH Clinical Center for Mitochondrial Disease with Epilepsy

Genetic Tests for Mitochondrial Disease with Epilepsy

Anatomical Context for Mitochondrial Disease with Epilepsy

MalaCards organs/tissues related to Mitochondrial Disease with Epilepsy:

41
Temporal Lobe

Publications for Mitochondrial Disease with Epilepsy

Articles related to Mitochondrial Disease with Epilepsy:

(show all 11)
# Title Authors PMID Year
1
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. 71
20142618 2010
2
The ketogenic diet affects the social behavior of young male rats. 38
28623167 2017
3
Effects of antiepileptic drugs on mitochondrial functions, morphology, kinetics, biogenesis, and survival. 38
28732239 2017
4
Mitochondrial DNA profiling via genomic analysis in mesial temporal lobe epilepsy patients with hippocampal sclerosis. 38
24440288 2014
5
Presentation of adult mitochondrial epilepsy. 38
23200763 2013
6
Post-translational oxidative modification and inactivation of mitochondrial complex I in epileptogenesis. 38
22895709 2012
7
Persistent impairment of mitochondrial and tissue redox status during lithium-pilocarpine-induced epileptogenesis. 38
21219330 2010
8
Mitochondrial dysfunction and oxidative stress: a contributing link to acquired epilepsy? 38
21132357 2010
9
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 38
19435586 2009
10
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes. 38
17576572 2007
11
Studies of homogenous populations: CLN5 and CLN8. 38
11332769 2001

Variations for Mitochondrial Disease with Epilepsy

ClinVar genetic disease variations for Mitochondrial Disease with Epilepsy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-TF m.616T> G single nucleotide variant Pathogenic rs387906420 MT:616-616 MT:616-616
2 MT-TF m.616T> C single nucleotide variant Pathogenic rs387906420 MT:616-616 MT:616-616

Expression for Mitochondrial Disease with Epilepsy

Search GEO for disease gene expression data for Mitochondrial Disease with Epilepsy.

Pathways for Mitochondrial Disease with Epilepsy

GO Terms for Mitochondrial Disease with Epilepsy

Sources for Mitochondrial Disease with Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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