MC1DM1
MCID: MTC149
MIFTS: 14

Mitochondrial Complex I Deficiency, Mitochondrial Type 1 (MC1DM1)

Categories: Genetic diseases, Metabolic 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 57 72
Mc1dm1 57 12 72
Mitochondrial Complex 1 Deficiency, Mitochondrial Type 1 6
Mitochondrial Type Mitochondrial Complex I Deficiency 1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112101
OMIM® 57 500014
MeSH 44 D028361
MedGen 41 CN257501

Summaries for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

UniProtKB/Swiss-Prot : 72 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).

Disease Ontology : 12 A mitochondrial type mitochondrial complex I deficiency that has material basis in mutation in MTND3 in the mitochondrial genome.

More information 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 (Updated 20-May-2021)

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

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

# Title Authors PMID Year
1
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 6 57
14705112 2004
2
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 6 57
11456298 2001
3
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 6
19458970 2009
4
A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. 6
17413873 2007
5
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 6
17152068 2007
6
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 6
15372108 2004

Variations for Mitochondrial Complex I Deficiency, Mitochondrial Type 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND3 m.10191T>C SNV Pathogenic 9712 rs267606890 GRCh37: MT:10191-10191
GRCh38: MT:10191-10191
2 MT-ND3 m.10158T>C SNV Pathogenic 9714 rs199476117 GRCh37: MT:10158-10158
GRCh38: MT:10158-10158
3 MT-ND3 m.10197G>A SNV Pathogenic 9715 rs267606891 GRCh37: MT:10197-10197
GRCh38: MT:10197-10197

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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