MCID: PRK088
MIFTS: 19

Parkinson Disease, Mitochondrial

Aliases & Classifications for Parkinson Disease, Mitochondrial

MalaCards integrated aliases for Parkinson Disease, Mitochondrial:

Name: Parkinson Disease, Mitochondrial 58 30 6

External Ids:

OMIM 58 556500

Summaries for Parkinson Disease, Mitochondrial

MalaCards based summary : Parkinson Disease, Mitochondrial is related to parkinson disease, late-onset and mitochondrial myopathy, infantile, transient. An important gene associated with Parkinson Disease, Mitochondrial is MT-TT (Mitochondrially Encoded TRNA-Thr (ACN)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include skeletal muscle.

Description from OMIM: 556500

Related Diseases for Parkinson Disease, Mitochondrial

Graphical network of the top 20 diseases related to Parkinson Disease, Mitochondrial:



Diseases related to Parkinson Disease, Mitochondrial

Symptoms & Phenotypes for Parkinson Disease, Mitochondrial

Clinical features from OMIM:

556500

Drugs & Therapeutics for Parkinson Disease, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Parkinson Disease, Mitochondrial

Genetic Tests for Parkinson Disease, Mitochondrial

Genetic tests related to Parkinson Disease, Mitochondrial:

# Genetic test Affiliating Genes
1 Parkinson Disease, Mitochondrial 30 MT-TT

Anatomical Context for Parkinson Disease, Mitochondrial

MalaCards organs/tissues related to Parkinson Disease, Mitochondrial:

42
Skeletal Muscle

Publications for Parkinson Disease, Mitochondrial

Articles related to Parkinson Disease, Mitochondrial:

(show all 30)
# Title Authors Year
1
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at? ( 25761946 )
2016
2
Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency. ( 27155576 )
2016
3
Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. ( 20581069 )
2010
4
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. ( 17200493 )
2007
5
A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. ( 15642852 )
2005
6
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. ( 10699170 )
2000
7
Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. ( 10369889 )
1999
8
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. ( 9674814 )
1998
9
The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. ( 9529371 )
1998
10
Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. ( 9570948 )
1998
11
Leigh syndrome: clinical features and biochemical and DNA abnormalities. ( 8602753 )
1996
12
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. ( 7647790 )
1995
13
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. ( 8264702 )
1994
14
Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. ( 8198140 )
1994
15
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ( 8447321 )
1993
16
Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease. ( 8069655 )
1993
17
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. ( 8513395 )
1993
18
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). ( 8170567 )
1993
19
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). ( 1334369 )
1992
20
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. ( 1487239 )
1992
21
Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins. ( 1324294 )
1992
22
Mitochondrial genetics: principles and practice. ( 1463005 )
1992
23
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). ( 1661776 )
1991
24
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). ( 1899320 )
1991
25
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. ( 1910259 )
1991
26
Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease. ( 1900002 )
1991
27
Clinical spectrum of mitochondrial DNA mutation at base pair 8344. ( 1678125 )
1991
28
Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. ( 1910341 )
1991
29
A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. ( 2124116 )
1990
30
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. ( 2112427 )
1990

Variations for Parkinson Disease, Mitochondrial

ClinVar genetic disease variations for Parkinson Disease, Mitochondrial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh37 Chromosome 18, 9117867: 9117867
2 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh38 Chromosome 18, 9117869: 9117869
3 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh37 Chromosome MT, 15950: 15950
4 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh38 Chromosome MT, 15950: 15950
5 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh37 Chromosome MT, 15965: 15965
6 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh38 Chromosome MT, 15965: 15965
7 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh37 Chromosome MT, 8344: 8344
8 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh38 Chromosome MT, 8344: 8344
9 ADH1C NM_000669.4(ADH1C): c.232G> T (p.Gly78Ter) single nucleotide variant risk factor rs283413 GRCh37 Chromosome 4, 100268190: 100268190
10 ADH1C NM_000669.4(ADH1C): c.232G> T (p.Gly78Ter) single nucleotide variant risk factor rs283413 GRCh38 Chromosome 4, 99347033: 99347033

Expression for Parkinson Disease, Mitochondrial

Search GEO for disease gene expression data for Parkinson Disease, Mitochondrial.

Pathways for Parkinson Disease, Mitochondrial

Pathways related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 MT-TP MT-TT

GO Terms for Parkinson Disease, Mitochondrial

Cellular components related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 8.62 MT-CYB MT-ND6

Biological processes related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.8 ADH1C MT-CYB MT-ND6

Molecular functions related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 ADH1C MT-CYB

Sources for Parkinson Disease, Mitochondrial

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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