MC5DM1
MCID: MTC150
MIFTS: 29

Mitochondrial Complex V Deficiency, Mitochondrial Type 1 (MC5DM1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Neuronal 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 57 29 6
Mitochondrial Complex V Deficiency Mitochondrial Type 1 12 72 15
Mc5dm1 57 12 72
Mitochondrial Complex V Deficiency, Mitochondrial 1 72
Adult-Onset Ataxia and Polyneuropathy 72
Infantile Hypertrophic Cardiomyopathy 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0111748
OMIM® 57 500015
MeSH 44 D028361
MedGen 41 C3275684

Summaries for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

UniProtKB/Swiss-Prot : 72 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 mitochondrial complex v deficiency mitochondrial type 1, is related to leigh syndrome and combined oxidative phosphorylation deficiency 16. 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 heart and skin.

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has material basis in mutation in mitochondrial gene MTATP6.

More information 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 36)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 28.7 UQCRQ TTC19 MT-ATP6
2 combined oxidative phosphorylation deficiency 16 11.6
3 ataxia and polyneuropathy, adult-onset 11.5
4 cardiomyopathy, infantile hypertrophic 11.4
5 combined oxidative phosphorylation deficiency 8 11.4
6 hypertrophic cardiomyopathy 10.5
7 atrial standstill 1 10.4
8 glycogen storage disease of heart, lethal congenital 10.1
9 glycogen storage disease 10.1
10 retinitis pigmentosa 10.1
11 neuroretinitis 10.1
12 polyneuropathy 10.1
13 retinitis 10.1
14 axonal neuropathy 10.1
15 mitochondrial dna-associated leigh syndrome and narp 10.1
16 cardiac conduction defect 10.0
17 cardiomyopathy, familial hypertrophic, 4 10.0
18 ichthyosis hystrix, curth-macklin type 10.0
19 noonan syndrome 1 10.0
20 cardiomyopathy, familial hypertrophic, 1 10.0
21 mitochondrial complex i deficiency, nuclear type 11 10.0
22 bronchopneumonia 10.0
23 myocarditis 10.0
24 phosphorylase kinase deficiency 10.0
25 pseudo-turner syndrome 10.0
26 mitochondrial metabolism disease 9.7 TTC19 MT-ATP6
27 mitochondrial complex iii deficiency, nuclear type 1 9.6 UQCRQ TTC19
28 combined oxidative phosphorylation deficiency 4 9.6 UQCC3 TTC19 LYRM7
29 infantile cerebellar-retinal degeneration 9.6 UQCC3 TTC19 LYRM7
30 lactic acidosis 9.4 UQCC3 UQCC2 MT-ATP6 LYRM7
31 gracile syndrome 9.1 UQCRQ UQCC2 TTC19 LYRM7
32 isolated complex iii deficiency 8.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
33 combined oxidative phosphorylation deficiency 22 8.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
34 mitochondrial complex v deficiency, nuclear type 3 8.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
35 mitochondrial complex iii deficiency 8.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
36 mitochondrial complex iv deficiency, nuclear type 5 8.7 UQCRQ UQCC3 UQCC2 TTC19 MT-ATP6 LYRM7

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 (Updated 20-May-2021)

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 29

Anatomical Context for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

40
Heart, Skin

Publications for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

(show top 50) (show all 66)
# Title Authors PMID Year
1
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 57 6
8395787 1993
2
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 6 57
1436530 1992
3
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. 6 57
1550128 1992
4
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. 57 6
3612192 1987
5
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
6
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. 6
19667215 2009
7
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. 6
19454486 2009
8
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. 6
18055910 2007
9
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 6
17352390 2007
10
NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. 6
17452590 2007
11
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 6
16049925 2005
12
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. 6
14998933 2004
13
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. 6
11925565 2002
14
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. 6
11843698 2002
15
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. 6
11916326 2001
16
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. 6
11730668 2001
17
Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease. 6
11751691 2001
18
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. 6
11371515 2001
19
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. 6
11076946 2001
20
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. 6
11245730 2001
21
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome. 6
10889120 2000
22
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. 6
10660580 2000
23
Retinopathy of NARP syndrome. 6
10676807 2000
24
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. 6
10590437 1999
25
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. 6
9883875 1998
26
A family with Leigh syndrome caused by the rarer T8993C mutation. 6
9762610 1998
27
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. 6
9631394 1998
28
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 6
9556461 1998
29
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. 6
9568930 1998
30
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 6
9501263 1998
31
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. 6
9329425 1997
32
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. 6
9199572 1997
33
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. 6
8644724 1996
34
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 6
8602753 1996
35
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 6
7668837 1995
36
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. 6
8750605 1995
37
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). 6
8042671 1994
38
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. 6
8250532 1993
39
Maternally inherited Leigh syndrome. 6
8095070 1993
40
Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 6
1539598 1992
41
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 6
2137962 1990
42
Infantile Hypertrophic Cardiomyopathy and Bronchopneumonia as Causes of an Unexpected Death in an 11-Month-Old Child. 61
31448665 2020
43
Isolated Heme A Synthase from Aquifex aeolicus Is a Trimer. 61
32605991 2020
44
Incidental finding of type A aortic dissection in a paediatric heart transplant recipient. 61
31451126 2019
45
Phenotypic Screening Using Patient-Derived Induced Pluripotent Stem Cells Identified Pyr3 as a Candidate Compound for the Treatment of Infantile Hypertrophic Cardiomyopathy. 61
30101858 2018
46
Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARĪ³-UCP2-AMPK axis. 61
29348686 2018
47
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation. 61
27692944 2017
48
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 61
27769300 2016
49
Leigh syndrome associated with a novel mutation in the COX15 gene. 61
26959537 2016
50
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes. 61
26940873 2016

Variations for Mitochondrial Complex V Deficiency, Mitochondrial Type 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
2 MT-ATP6 NC_012920.1:m.9176T>C SNV Pathogenic 9644 rs199476135 GRCh37: MT:9176-9176
GRCh38: MT:9176-9176
3 MT-ATP6 NC_012920.1:m.9176T>G SNV Pathogenic 9650 rs199476135 GRCh37: MT:9176-9176
GRCh38: MT:9176-9176
4 MT-ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 GRCh37: MT:9185-9185
GRCh38: MT:9185-9185
5 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993

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

72
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Pro VAR_000794 rs199476133

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

Cellular components related to Mitochondrial Complex V Deficiency, Mitochondrial Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 UQCRQ UQCC3 UQCC2 TTC19 MT-ATP6 LYRM7
2 respiratory chain GO:0070469 9.26 UQCRQ TTC19
3 mitochondrial respiratory chain complex III GO:0005750 9.16 UQCRQ UQCC3
4 mitochondrial inner membrane GO:0005743 9.02 UQCRQ UQCC3 UQCC2 TTC19 MT-ATP6

Biological processes related to Mitochondrial Complex V Deficiency, Mitochondrial Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP biosynthetic process GO:0006754 9.26 UQCC3 MT-ATP6
2 cristae formation GO:0042407 9.16 UQCC3 MT-ATP6
3 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 8.96 UQCRQ UQCC3
4 mitochondrial respiratory chain complex III assembly GO:0034551 8.92 UQCC3 UQCC2 TTC19 LYRM7

Sources for Mitochondrial Complex V 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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