MC1DM1
MCID: MTC149
MIFTS: 12

Mitochondrial Complex I Deficiency, Mitochondrial Type 1 (MC1DM1)

Categories: Genetic diseases

Aliases & Classifications for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

MalaCards integrated aliases for Mitochondrial Complex I Deficiency, Mitochondrial Type 1:

Name: Mitochondrial Complex I Deficiency, Mitochondrial Type 1 58 76 6
Mc1dm1 58 76

Classifications:



External Ids:

OMIM 58 500014
MeSH 45 D028361
MedGen 43 CN257501

Summaries for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

UniProtKB/Swiss-Prot : 76 Mitochondrial complex I deficiency, mitochondrial type 1: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

MalaCards based summary : Mitochondrial Complex I Deficiency, Mitochondrial Type 1, is also known as mc1dm1. An important gene associated with Mitochondrial Complex I Deficiency, Mitochondrial Type 1 is MT-ND3 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3). Affiliated tissues include liver.

Description from OMIM: 500014

Related Diseases for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Symptoms & Phenotypes for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Clinical features from OMIM:

500014

Drugs & Therapeutics for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Genetic Tests for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Anatomical Context for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

MalaCards organs/tissues related to Mitochondrial Complex I Deficiency, Mitochondrial Type 1:

42
Liver

Publications for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Articles related to Mitochondrial Complex I Deficiency, Mitochondrial Type 1:

# Title Authors Year
1
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. ( 19458970 )
2009
2
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. ( 17152068 )
2007
3
A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. ( 17413873 )
2007
4
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. ( 15372108 )
2004
5
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. ( 14705112 )
2004
6
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. ( 11456298 )
2001

Variations for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex I Deficiency, Mitochondrial Type 1:

76
# Symbol AA change Variation ID SNP ID
1 MT-ND3 p.Ser45Pro VAR_035091 rs267606890
2 MT-ND3 p.Ala47Thr VAR_035092 rs267606891
3 MT-ND3 p.Ser34Pro VAR_064564 rs199476117

ClinVar genetic disease variations for Mitochondrial Complex I Deficiency, Mitochondrial Type 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 GRCh37 Chromosome MT, 10191: 10191
2 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 GRCh38 Chromosome MT, 10191: 10191
3 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 GRCh37 Chromosome MT, 10158: 10158
4 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 GRCh38 Chromosome MT, 10158: 10158
5 MT-ND3 m.10197G> A single nucleotide variant Pathogenic rs267606891 GRCh37 Chromosome MT, 10197: 10197
6 MT-ND3 m.10197G> A single nucleotide variant Pathogenic rs267606891 GRCh38 Chromosome MT, 10197: 10197

Expression for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Search GEO for disease gene expression data for Mitochondrial Complex I Deficiency, Mitochondrial Type 1.

Pathways for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

GO Terms for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Sources for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

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