MC5DM1
MCID: MTC150
MIFTS: 21

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). Affiliated tissues include skin and brain.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 16 12.0
2 ataxia and polyneuropathy, adult-onset 11.9
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 glycogen storage disease 9.9
9 phosphorylase kinase deficiency 9.9
10 mitochondrial complex i deficiency, nuclear type 11 9.9
11 glycogen storage disease of heart, lethal congenital 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

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

42
Skin, Brain

Publications for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

(show all 46)
# 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
Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology. ( 19454486 )
2009
6
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. ( 19667215 )
2009
7
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. ( 18467358 )
2008
8
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. ( 18055910 )
2007
9
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. ( 17352390 )
2007
10
NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. ( 17452590 )
2007
11
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. ( 16049925 )
2005
12
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. ( 14998933 )
2004
13
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. ( 11843698 )
2002
14
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. ( 11925565 )
2002
15
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. ( 11245730 )
2001
16
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. ( 11371515 )
2001
17
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. ( 11730668 )
2001
18
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. ( 11076946 )
2001
19
Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease. ( 11751691 )
2001
20
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. ( 11916326 )
2001
21
Retinopathy of NARP syndrome. ( 10676807 )
2000
22
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. ( 10660580 )
2000
23
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. ( 10889120 )
2000
24
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. ( 10368461 )
1999
25
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. ( 10590437 )
1999
26
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. ( 9501263 )
1998
27
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. ( 9556461 )
1998
28
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. ( 9568930 )
1998
29
A family with Leigh syndrome caused by the rarer T8993C mutation. ( 9762610 )
1998
30
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. ( 9883875 )
1998
31
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. ( 9631394 )
1998
32
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. ( 9329425 )
1997
33
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. ( 9199572 )
1997
34
Leigh syndrome: clinical features and biochemical and DNA abnormalities. ( 8602753 )
1996
35
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. ( 8644724 )
1996
36
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. ( 7668837 )
1995
37
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. ( 8750605 )
1995
38
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). ( 8042671 )
1994
39
Maternally inherited Leigh syndrome. ( 8095070 )
1993
40
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. ( 8395787 )
1993
41
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. ( 8250532 )
1993
42
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. ( 1550128 )
1992
43
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. ( 1436530 )
1992
44
Prenatal diagnosis of mitochondrial DNA8993 T----G disease. ( 1539598 )
1992
45
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. ( 2137962 )
1990
46
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. ( 3612192 )
1987

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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