MCID: MTC014
MIFTS: 27

Mitochondrial Dna Deletion Syndromes

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Deletion Syndromes

MalaCards integrated aliases for Mitochondrial Dna Deletion Syndromes:

Name: Mitochondrial Dna Deletion Syndromes 24 29
Mtdna Deletion Syndromes 24

Characteristics:

GeneReviews:

24
Penetrance In mtdna-related disorders, penetrance is a function of the proportion of abnormal mtdna molecules. as a general rule, heteroplasmic levels above 80%-90% cause mitochondrial dysfunction and clinical symptoms. however, this is now recognized to be highly variable depending on mutation location and severity, specific tissue tested, age at which testing was performed, and testing methodology used.

Classifications:



Summaries for Mitochondrial Dna Deletion Syndromes

MalaCards based summary : Mitochondrial Dna Deletion Syndromes, also known as mtdna deletion syndromes, is related to dysphagia and mitochondrial myopathy. An important gene associated with Mitochondrial Dna Deletion Syndromes is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include testes, eye and kidney, and related phenotypes are cellular and homeostasis/metabolism

GeneReviews: NBK1203

Related Diseases for Mitochondrial Dna Deletion Syndromes

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Deletion Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 dysphagia 29.4 COX15 COX10
2 mitochondrial myopathy 28.7 SURF1 POLG COX15 COX10
3 aceruloplasminemia 28.6 SURF1 POLG BCS1L
4 kearns-sayre syndrome 28.4 SURF1 SDHA POLG COX10
5 leigh syndrome 27.0 SURF1 SDHA POLG COX15 COX10 BCS1L
6 multiple mitochondrial dna deletion syndrome 12.4
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.8
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.6
9 mitochondrial dna depletion syndrome 3 11.4
10 chronic progressive external ophthalmoplegia 10.1
11 myopathy 10.1
12 pearson marrow-pancreas syndrome 10.1
13 sensorineural hearing loss 10.0
14 cardioencephalomyopathy 9.9 SURF1 COX15
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.8
16 acyl-coa dehydrogenase, very long-chain, deficiency of 9.8
17 alacrima, achalasia, and mental retardation syndrome 9.8
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
19 aspiration pneumonia 9.8
20 ptosis 9.8
21 fanconi syndrome 9.8
22 sideroblastic anemia 9.8
23 achalasia 9.8
24 mitochondrial disorders 9.8
25 slc6a3-related dopamine transporter deficiency syndrome 9.8
26 hypertrophic olivary degeneration 9.8 SURF1 POLG
27 nuclear gene-encoded leigh syndrome 9.7 COX15 COX10 BCS1L
28 mitochondrial complex iv deficiency 9.5 SURF1 COX15 COX10
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 POLG COX10 BCS1L
30 mitochondrial dna depletion syndrome 9 9.4 SDHA POLG
31 leigh syndrome with leukodystrophy 9.3 SURF1 SDHA COX15
32 myoclonic epilepsy associated with ragged-red fibers 9.2 SURF1 POLG COX10 BCS1L
33 mitochondrial encephalomyopathy 9.2 SURF1 POLG COX10 BCS1L
34 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.1 SURF1 POLG COX15 COX10
35 lactic acidosis 9.1 SURF1 POLG COX15 BCS1L
36 charcot-marie-tooth disease 9.0 SURF1 POLG COX10
37 leber optic atrophy 8.8 SURF1 POLG COX15 COX10 BCS1L
38 mitochondrial dna-associated leigh syndrome 8.7 SURF1 SDHA COX15 COX10 BCS1L
39 mitochondrial dna-associated leigh syndrome and narp 8.7 SURF1 SDHA COX15 COX10 BCS1L
40 mitochondrial metabolism disease 8.2 SURF1 SDHA POLG COX15 COX10 BCS1L

Graphical network of the top 20 diseases related to Mitochondrial Dna Deletion Syndromes:



Diseases related to Mitochondrial Dna Deletion Syndromes

Symptoms & Phenotypes for Mitochondrial Dna Deletion Syndromes

MGI Mouse Phenotypes related to Mitochondrial Dna Deletion Syndromes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 BCS1L COX10 COX15 POLG SURF1
2 homeostasis/metabolism MP:0005376 9.43 BCS1L COX10 COX15 POLG SDHA SURF1
3 mortality/aging MP:0010768 9.1 BCS1L COX10 COX15 POLG SDHA SURF1

Drugs & Therapeutics for Mitochondrial Dna Deletion Syndromes

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Deletion Syndromes

Genetic Tests for Mitochondrial Dna Deletion Syndromes

Genetic tests related to Mitochondrial Dna Deletion Syndromes:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Deletion Syndromes 29

Anatomical Context for Mitochondrial Dna Deletion Syndromes

MalaCards organs/tissues related to Mitochondrial Dna Deletion Syndromes:

40
Testes, Eye, Kidney, Bone, Liver, Pancreas

Publications for Mitochondrial Dna Deletion Syndromes

Articles related to Mitochondrial Dna Deletion Syndromes:

(show all 44)
# Title Authors PMID Year
1
Neuroimaging of Mitochondrial Cytopathies. 24
30086109 2018
2
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. 24
29428506 2018
3
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. 24
28749475 2017
4
Mitochondrial diseases. 24
27775730 2016
5
Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society. 24
26886206 2016
6
Leigh syndrome: One disorder, more than 75 monogenic causes. 24
26506407 2016
7
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). 24
26238250 2016
8
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. 24
25352051 2015
9
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. 24
25542617 2015
10
Biochemical abnormalities in Pearson syndrome. 24
25691415 2015
11
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. 24
25540845 2015
12
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. 24
25539952 2014
13
Pearson syndrome in a Diamond-Blackfan anemia cohort. 24
25035146 2014
14
Disease progression in patients with single, large-scale mitochondrial DNA deletions. 24
24277717 2014
15
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. 24
23355809 2013
16
Targeted exome sequencing of suspected mitochondrial disorders. 24
23596069 2013
17
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. 24
22424738 2012
18
The use of neuroimaging in the diagnosis of mitochondrial disease. 24
20818727 2010
19
Pearson syndrome in the neonatal period: two case reports and review of the literature. 24
19881395 2009
20
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. 24
18553104 2009
21
Urinary biomarkers for sensitive and specific detection of acute kidney injury in humans. 24
19212447 2008
22
Prevalence of mitochondrial DNA disease in adults. 24
17886296 2008
23
Prognostic value of tubular proteinuria and enzymuria in nonoliguric acute tubular necrosis. 24
14709451 2004
24
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 24
12975295 2003
25
Mitochondrial respiratory-chain diseases. 24
12826641 2003
26
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 24
12707443 2003
27
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 24
12210792 2002
28
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 24
11756592 2001
29
Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. 24
11359024 2001
30
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 24
8602753 1996
31
Rearranged mitochondrial genomes are present in human oocytes. 24
7668249 1995
32
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. 24
8490619 1993
33
Kearns-Sayre syndrome presenting as renal tubular acidosis. 24
2234434 1990
34
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. 24
2308845 1990
35
Duplications of mitochondrial DNA in mitochondrial myopathy. 24
2563411 1989
36
Assessment of urinary retinol-binding protein as an index of proximal tubular injury. 24
3297418 1987
37
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. 24
501502 1979
38
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature. 61
31825167 2020
39
Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. 61
29155871 2017
40
Large mitochondrial DNA deletion in an infant with addison disease. 61
23430867 2012
41
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. 61
21187929 2010
42
Mitochondrial DNA Deletion Syndromes 61
20301382 2003
43
A novel clinical phenotype of myopathy, sensorimotor neuropathy, infertility, and hypogonadism with multiple mitochondrial DNA deletions. 61
19078659 2001
44
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. 61
1301992 1992

Variations for Mitochondrial Dna Deletion Syndromes

Expression for Mitochondrial Dna Deletion Syndromes

Search GEO for disease gene expression data for Mitochondrial Dna Deletion Syndromes.

Pathways for Mitochondrial Dna Deletion Syndromes

GO Terms for Mitochondrial Dna Deletion Syndromes

Cellular components related to Mitochondrial Dna Deletion Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 SURF1 SDHA POLG COX15 COX10 BCS1L
2 mitochondrial membrane GO:0031966 9.32 COX15 COX10
3 mitochondrial respiratory chain GO:0005746 9.26 SURF1 COX15
4 cytochrome complex GO:0070069 9.16 COX15 COX10
5 mitochondrial inner membrane GO:0005743 9.02 SURF1 SDHA COX15 COX10 BCS1L

Biological processes related to Mitochondrial Dna Deletion Syndromes according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 SURF1 SDHA COX15
2 electron transport chain GO:0022900 9.48 SURF1 SDHA
3 mitochondrion organization GO:0007005 9.46 COX10 BCS1L
4 aerobic respiration GO:0009060 9.43 SURF1 COX10
5 mitochondrial respiratory chain complex IV assembly GO:0033617 9.4 SURF1 BCS1L
6 heme biosynthetic process GO:0006783 9.37 COX15 COX10
7 proton transmembrane transport GO:1902600 9.33 SURF1 COX15 COX10
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.32 COX15 COX10
9 cellular respiration GO:0045333 9.26 COX15 COX10
10 heme a biosynthetic process GO:0006784 8.96 COX15 COX10
11 respiratory chain complex IV assembly GO:0008535 8.8 SURF1 COX15 COX10

Molecular functions related to Mitochondrial Dna Deletion Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 8.96 SDHA COX15
2 cytochrome-c oxidase activity GO:0004129 8.8 SURF1 COX15 COX10

Sources for Mitochondrial Dna Deletion Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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