MC5DM1
MCID: MTC150
MIFTS: 16

Mitochondrial Complex V Deficiency, Mitochondrial Type 1 (MC5DM1)

Categories: Cardiovascular diseases

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

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

Name: Mitochondrial Complex V Deficiency, Mitochondrial Type 1 58 30 6
Mc5dm1 58 76
Mitochondrial Complex V Deficiency Mitochondrial Type 1 76
Mitochondrial Complex V Deficiency, Mitochondrial 1 76
Adult-Onset Ataxia and Polyneuropathy 76
Infantile Hypertrophic Cardiomyopathy 76

Classifications:



External Ids:

OMIM 58 500015
MeSH 45 D028361
MedGen 43 C1838916

Summaries for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

UniProtKB/Swiss-Prot : 76 Mitochondrial complex V deficiency, mitochondrial 1: A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.

MalaCards based summary : Mitochondrial Complex V Deficiency, Mitochondrial Type 1, also known as mc5dm1, is related to combined oxidative phosphorylation deficiency 16 and ataxia and polyneuropathy, adult-onset. An important gene associated with Mitochondrial Complex V Deficiency, Mitochondrial Type 1 is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6).

Description from OMIM: 500015

Related Diseases for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

Diseases related to Mitochondrial Complex V Deficiency, Mitochondrial Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 16 11.9
2 ataxia and polyneuropathy, adult-onset 11.6
3 cardiomyopathy, infantile hypertrophic 11.5
4 combined oxidative phosphorylation deficiency 8 11.4
5 hypertrophic cardiomyopathy 10.3
6 polyneuropathy 10.0
7 atrial standstill 1 9.9
8 phosphorylase kinase deficiency 9.9

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency, Mitochondrial Type 1:



Diseases related to Mitochondrial Complex V   Deficiency, Mitochondrial Type 1

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

Clinical features from OMIM:

500015

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

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

Genetic Tests for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

Genetic tests related to Mitochondrial Complex V Deficiency, Mitochondrial Type 1:

# Genetic test Affiliating Genes
1 Mitochondrial Complex V (atp Synthase) Deficiency, Mitochondrial Type 1 30

Anatomical Context for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

Publications for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

# Title Authors Year
1
Phenotypic Screening Using Patient-Derived Induced Pluripotent Stem Cells Identified Pyr3 as a Candidate Compound for the Treatment of Infantile Hypertrophic Cardiomyopathy. ( 30101858 )
2018
2
Diffuse rhabdomyomatosis presenting as infantile hypertrophic cardiomyopathy. ( 24461431 )
2014
3
Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. ( 23594557 )
2013
4
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. ( 21931170 )
2011
5
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. ( 18467358 )
2008
6
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. ( 10368461 )
1999

Variations for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
4 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
5 MT-ATP6 m.9176T> C single nucleotide variant Pathogenic rs199476135 GRCh37 Chromosome MT, 9176: 9176
6 MT-ATP6 m.9176T> C single nucleotide variant Pathogenic rs199476135 GRCh38 Chromosome MT, 9176: 9176
7 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
8 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh38 Chromosome MT, 9185: 9185
9 MT-ATP6 m.9176T> G single nucleotide variant Pathogenic rs199476135 GRCh37 Chromosome MT, 9176: 9176
10 MT-ATP6 m.9176T> G single nucleotide variant Pathogenic rs199476135 GRCh38 Chromosome MT, 9176: 9176

Expression for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

Pathways for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

GO Terms for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

Sources for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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