MCID: NCL007
MIFTS: 24

Nuclear Gene-Encoded Leigh Syndrome

Categories: Rare diseases

Aliases & Classifications for Nuclear Gene-Encoded Leigh Syndrome

MalaCards integrated aliases for Nuclear Gene-Encoded Leigh Syndrome:

Name: Nuclear Gene-Encoded Leigh Syndrome 24 53

Classifications:



Summaries for Nuclear Gene-Encoded Leigh Syndrome

NIH Rare Diseases : 53 Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present.

MalaCards based summary : Nuclear Gene-Encoded Leigh Syndrome is related to leigh syndrome and mitochondrial complex iv deficiency. An important gene associated with Nuclear Gene-Encoded Leigh Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, heart and lung, and related phenotype is Decreased viability after sindbis virus (SIN) dsTE12Q infection.

GeneReviews: NBK320989

Related Diseases for Nuclear Gene-Encoded Leigh Syndrome

Diseases related to Nuclear Gene-Encoded Leigh Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 29.5 COX6B1 COX20 COX15 COX10 BCS1L
2 mitochondrial complex iv deficiency 26.3 COX8A COX6B1 COX20 COX15 COX14 COX10
3 biotinidase deficiency 10.1
4 aceruloplasminemia 10.1
5 chorea, childhood-onset, with psychomotor retardation 10.1
6 coenzyme q10 deficiency disease 10.1
7 ptosis 10.1
8 respiratory failure 10.1
9 choreatic disease 10.1
10 hypertrichosis 10.1
11 movement disease 10.1
12 dystonia 10.1
13 peripheral nervous system disease 10.1
14 basal ganglia disease 10.1
15 neuropathy 10.1
16 biotin-thiamine-responsive basal ganglia disease 10.1
17 hypertrophic cardiomyopathy 10.1
18 hypotonia 10.1
19 spasticity 10.1
20 mitochondrial metabolism disease 9.1 COX15 COX14 COX10 BCS1L

Graphical network of the top 20 diseases related to Nuclear Gene-Encoded Leigh Syndrome:



Diseases related to Nuclear Gene-Encoded Leigh Syndrome

Symptoms & Phenotypes for Nuclear Gene-Encoded Leigh Syndrome

GenomeRNAi Phenotypes related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 8.62 COX6B1 COX8A

Drugs & Therapeutics for Nuclear Gene-Encoded Leigh Syndrome

Search Clinical Trials , NIH Clinical Center for Nuclear Gene-Encoded Leigh Syndrome

Genetic Tests for Nuclear Gene-Encoded Leigh Syndrome

Anatomical Context for Nuclear Gene-Encoded Leigh Syndrome

MalaCards organs/tissues related to Nuclear Gene-Encoded Leigh Syndrome:

41
Liver, Heart, Lung, Kidney, Skeletal Muscle

Publications for Nuclear Gene-Encoded Leigh Syndrome

Articles related to Nuclear Gene-Encoded Leigh Syndrome:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Leigh syndrome: neuropathology and pathogenesis. 4
25978847 2015
2
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 4
25393721 2015
3
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 4
25125611 2014
4
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 4
25130867 2014
5
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. 4
25037205 2014
6
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 4
25058219 2014
7
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 4
24256811 2014
8
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 4
24461907 2014
9
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 4
24462369 2014
10
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 4
24334290 2014
11
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 4
24299452 2013
12
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 4
24341803 2013
13
Treatable Leigh-like encephalopathy presenting in adolescence. 4
24099834 2013
14
Anesthetic considerations in patients with mitochondrial defects. 4
23534340 2013
15
SURF1 deficiency: a multi-centre natural history study. 4
23829769 2013
16
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. 4
23746447 2013
17
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 4
23423671 2013
18
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 4
23290025 2013
19
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 4
23084291 2012
20
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. 4
23010433 2012
21
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. 4
22995659 2012
22
Complex I deficiency: clinical features, biochemistry and molecular genetics. 4
22972949 2012
23
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. 4
22896851 2012
24
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 4
22683713 2012
25
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 4
22499341 2012
26
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. 4
21982779 2012
27
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 4
22114105 2012
28
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency. 4
21723727 2012
29
Maternally inherited mitochondrial DNA disease in consanguineous families. 4
21712854 2011
30
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 4
21914562 2011
31
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. 4
22152682 2011
32
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 4
21617257 2011
33
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 4
21907147 2011
34
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 4
21278747 2011
35
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 4
21150889 2011
36
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. 4
21266382 2011
37
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 4
20858599 2010
38
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 4
20818383 2010
39
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 4
19542079 2010
40
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 4
20453710 2010
41
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 4
20598281 2010
42
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 4
20362274 2010
43
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 4
20159436 2010
44
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. 4
19924563 2009
45
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. 4
19798730 2009
46
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 4
19503089 2009
47
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 4
18828154 2009
48
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 4
18940309 2008
49
A mitochondrial protein compendium elucidates complex I disease biology. 4
18614015 2008
50
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 4
18593870 2008

Variations for Nuclear Gene-Encoded Leigh Syndrome

Expression for Nuclear Gene-Encoded Leigh Syndrome

Search GEO for disease gene expression data for Nuclear Gene-Encoded Leigh Syndrome.

Pathways for Nuclear Gene-Encoded Leigh Syndrome

GO Terms for Nuclear Gene-Encoded Leigh Syndrome

Cellular components related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.85 COX8A COX20 COX15 COX14 COX10 BCS1L
2 mitochondrial membrane GO:0031966 9.5 COX15 COX14 COX10
3 mitochondrion GO:0005739 9.5 COX8A COX6B1 COX20 COX15 COX14 COX10
4 respiratory chain complex IV GO:0045277 9.26 COX8A COX6B1
5 cytochrome complex GO:0070069 9.16 COX15 COX10
6 mitochondrial inner membrane GO:0005743 9.1 COX8A COX6B1 COX20 COX15 COX10 BCS1L

Biological processes related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.46 COX10 BCS1L
2 aerobic respiration GO:0009060 9.43 COX20 COX10
3 cellular respiration GO:0045333 9.4 COX15 COX10
4 heme biosynthetic process GO:0006783 9.37 COX15 COX10
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.32 COX15 COX10
6 respiratory chain complex IV assembly GO:0008535 9.26 COX15 COX10
7 electron transport chain GO:0022900 9.18 COX8A
8 heme a biosynthetic process GO:0006784 9.16 COX15 COX10
9 mitochondrial respiratory chain complex IV assembly GO:0033617 9.13 COX20 COX14 BCS1L
10 proton transmembrane transport GO:1902600 8.92 COX8A COX6B1 COX15 COX10

Molecular functions related to Nuclear Gene-Encoded Leigh Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.92 COX8A COX6B1 COX15 COX10

Sources for Nuclear Gene-Encoded Leigh Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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