MCID: MTC149
MIFTS: 4

Mitochondrial Complex I Deficiency, Mitochondrial Type 1

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 6
Mc1dm1 58

External Ids:

OMIM 58 500014

Summaries for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

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).

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

Publications for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

Variations for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

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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