MCID: NCL011
MIFTS: 21

Nuclear Gene-Encoded Leigh Syndrome Spectrum

Categories: Rare diseases

Aliases & Classifications for Nuclear Gene-Encoded Leigh Syndrome Spectrum

MalaCards integrated aliases for Nuclear Gene-Encoded Leigh Syndrome Spectrum:

Name: Nuclear Gene-Encoded Leigh Syndrome Spectrum 25

Classifications:



Summaries for Nuclear Gene-Encoded Leigh Syndrome Spectrum

MalaCards based summary : Nuclear Gene-Encoded Leigh Syndrome Spectrum is related to nuclear gene-encoded leigh syndrome and leigh syndrome. An important gene associated with Nuclear Gene-Encoded Leigh Syndrome Spectrum is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and AMPK Enzyme Complex Pathway. Affiliated tissues include skeletal muscle and medulla oblongata, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

GeneReviews: NBK320989

Related Diseases for Nuclear Gene-Encoded Leigh Syndrome Spectrum

Diseases in the Nuclear Gene-Encoded Leigh Syndrome family:

Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 nuclear gene-encoded leigh syndrome 28.4 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
2 leigh syndrome 28.4 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
3 dysphagia 10.0 COX15 COX10
4 neuropathy, ataxia, and retinitis pigmentosa 10.0 COX15 COX10
5 cardiomyopathy, infantile hypertrophic 9.9 COX15 COX10
6 mitochondrial complex iv deficiency, nuclear type 5 9.9 LRPPRC BCS1L
7 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.9 COX15 COX10
8 myoclonic epilepsy associated with ragged-red fibers 9.9 COX10 BCS1L
9 mitochondrial encephalomyopathy 9.8 COX10 BCS1L
10 kearns-sayre syndrome 9.8 COX15 COX10 BCS1L
11 mitochondrial dna depletion syndrome 9 9.8 FOXRED1 COX10
12 leber hereditary optic neuropathy, modifier of 9.8 COX15 COX10 BCS1L
13 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 COX15 COX10 BCS1L
14 mitochondrial myopathy 9.7 COX15 COX10 BCS1L
15 mitochondrial disorders 9.7 COX10 BCS1L
16 mitochondrial complex iv deficiency, nuclear type 1 9.7 LRPPRC COX15 COX10
17 leigh syndrome with leukodystrophy 9.7 FOXRED1 COX15
18 lactic acidosis 9.4 LRPPRC DLD COX15 BCS1L
19 mitochondrial metabolism disease 9.0 LRPPRC FOXRED1 COX15 COX10 BCS1L

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



Diseases related to Nuclear Gene-Encoded Leigh Syndrome Spectrum

Symptoms & Phenotypes for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.6 LRPPRC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.6 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 BCS1L COX10 LRPPRC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.6 COX10
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.6 LRPPRC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 BCS1L
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.6 LRPPRC
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 LRPPRC
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 BCS1L COX10
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.6 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.6 LRPPRC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 BCS1L LRPPRC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.6 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 COX10
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.6 LRPPRC

MGI Mouse Phenotypes related to Nuclear Gene-Encoded Leigh Syndrome Spectrum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 BCS1L COX10 COX15 DLD FOXRED1 LRPPRC

Drugs & Therapeutics for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

Genetic Tests for Nuclear Gene-Encoded Leigh Syndrome Spectrum

Anatomical Context for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

40
Skeletal Muscle, Medulla Oblongata

Publications for Nuclear Gene-Encoded Leigh Syndrome Spectrum

Articles related to Nuclear Gene-Encoded Leigh Syndrome Spectrum:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. 25
32160317 2020
2
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. 25
32030781 2020
3
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. 25
32444556 2020
4
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. 25
31866046 2020
5
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. 25
30607703 2019
6
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. 25
30911575 2019
7
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. 25
29917077 2018
8
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. 25
29560582 2018
9
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 25
29205472 2017
10
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. 25
28853723 2017
11
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
12
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 25
28777931 2017
13
Genetic diagnosis of Mendelian disorders via RNA sequencing. 25
28604674 2017
14
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. 25
28386624 2017
15
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. 25
27995398 2017
16
Leigh map: A novel computational diagnostic resource for mitochondrial disease. 25
27977873 2017
17
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 25
27301544 2016
18
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. 25
27390132 2016
19
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. 25
27499296 2016
20
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. 25
26783368 2016
21
Timing, rates and spectra of human germline mutation. 25
26656846 2016
22
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 25
26685157 2016
23
Leigh syndrome: One disorder, more than 75 monogenic causes. 25
26506407 2016
24
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 25
26008862 2015
25
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. 25
26016410 2015
26
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 25
26168012 2015
27
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 25
25807530 2015
28
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 25
25393721 2015
29
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25
25597511 2015
30
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25
25434004 2014
31
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. 25
25130867 2014
32
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 25
25125611 2014
33
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. 25
25037205 2014
34
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25
25058219 2014
35
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 25
24256811 2014
36
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 25
24462369 2014
37
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 25
24334290 2014
38
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 25
24299452 2013
39
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 25
24341803 2013
40
Treatable Leigh-like encephalopathy presenting in adolescence. 25
24099834 2013
41
Anesthetic considerations in patients with mitochondrial defects. 25
23534340 2013
42
SURF1 deficiency: a multi-centre natural history study. 25
23829769 2013
43
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. 25
23746447 2013
44
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 25
23423671 2013
45
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 25
23290025 2013
46
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 25
23084291 2012
47
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. 25
23010433 2012
48
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. 25
22995659 2012
49
Complex I deficiency: clinical features, biochemistry and molecular genetics. 25
22972949 2012
50
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. 25
22896851 2012

Variations for Nuclear Gene-Encoded Leigh Syndrome Spectrum

Expression for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

Pathways for Nuclear Gene-Encoded Leigh Syndrome Spectrum

GO Terms for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 FOXRED1 COX15 COX10 BCS1L
2 mitochondrial membrane GO:0031966 9.26 COX15 COX10
3 mitochondrion GO:0005739 9.1 LRPPRC FOXRED1 DLD COX15 COX10 BCS1L
4 cytochrome complex GO:0070069 8.96 COX15 COX10

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 FOXRED1 DLD COX15
2 proton transmembrane transport GO:1902600 9.43 COX15 COX10
3 mitochondrion organization GO:0007005 9.4 COX10 BCS1L
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.37 FOXRED1 BCS1L
5 heme biosynthetic process GO:0006783 9.32 COX15 COX10
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.26 COX15 COX10
7 cellular respiration GO:0045333 9.16 COX15 COX10
8 respiratory chain complex IV assembly GO:0008535 8.96 COX15 COX10
9 heme a biosynthetic process GO:0006784 8.62 COX15 COX10

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 COX15 COX10

Sources for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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