Nuclear Gene-Encoded Leigh Syndrome Spectrum disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NCL011 MIFTS: 21	Nuclear Gene-Encoded Leigh Syndrome Spectrum Categories: Rare diseases
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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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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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

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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:

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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

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Drugs & Therapeutics for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

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Genetic Tests for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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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

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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	Friederich MW...Van Hove JLK	32160317	2020
2	Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. ²⁵	De Vries MC...Mancuso M	32030781	2020
3	Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. ²⁵	Oktay Y...Horvath R	32444556	2020
4	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. ²⁵	Alston CL...Taylor RW	31866046	2020
5	Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. ²⁵	Borna NN...Okazaki Y	30607703	2019
6	Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. ²⁵	Hayhurst H...Ng YS	30911575	2019
7	USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. ²⁵	Barca E...Falk MJ	29917077	2018
8	A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. ²⁵	Smith AC...Penney LS	29560582	2018
9	Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. ²⁵	Maas RR...Wortmann SB	29205472	2017
10	NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. ²⁵	Baertling F...Nijtmans LGJ	28853723	2017
11	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁵	Jonsson H...Stefansson K	28959963	2017
12	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. ²⁵	Lake NJ...Thorburn DR	28777931	2017
13	Genetic diagnosis of Mendelian disorders via RNA sequencing. ²⁵	Kremer LS...Prokisch H	28604674	2017
14	Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. ²⁵	Renkema GH...Rodenburg RJT	28386624	2017
15	A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. ²⁵	Riley LG...Christodoulou J	27995398	2017
16	Leigh map: A novel computational diagnostic resource for mitochondrial disease. ²⁵	Rahman J...Rahman S	27977873	2017
17	DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. ²⁵	Zaha K...Nonoyama S	27301544	2016
18	SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. ²⁵	Janer A...Shoubridge EA	27390132	2016
19	Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. ²⁵	Floyd BJ...Pagliarini DJ	27499296	2016
20	Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. ²⁵	Koch J...Haack TB	26783368	2016
21	Timing, rates and spectra of human germline mutation. ²⁵	Rahbari R...Hurles ME	26656846	2016
22	Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. ²⁵	Hallmann K...Kunz WS	26685157	2016
23	Leigh syndrome: One disorder, more than 75 monogenic causes. ²⁵	Lake NJ...Thorburn DR	26506407	2016
24	Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. ²⁵	Cameron JM...Schulze A	26008862	2015
25	Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. ²⁵	Fukumura S...Tsutsumi H	26016410	2015
26	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. ²⁵	Abrams AJ...Dallman JE	26168012	2015
27	Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. ²⁵	Simon M...Riazuddin S	25807530	2015
28	ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. ²⁵	Sakai C...Goto Y	25393721	2015
29	CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. ²⁵	Saunders C...Ostergaard E	25597511	2015
30	Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. ²⁵	Kopajtich R...Prokisch H	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	Schwartzentruber J...Samuels ME	25130867	2014
32	ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. ²⁵	Peters H...Pitt J	25125611	2014
33	Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. ²⁵	Ahola S...Suomalainen A	25037205	2014
34	Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. ²⁵	Taylor RW...Chinnery PF	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	Tort F...Ribes A	24256811	2014
36	A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. ²⁵	Lim SC...Thorburn DR	24462369	2014
37	Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. ²⁵	Baker PR...Van Hove JL	24334290	2014
38	HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. ²⁵	Ferdinandusse S...Rahman S	24299452	2013
39	Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. ²⁵	Soreze Y...de Lonlay P	24341803	2013
40	Treatable Leigh-like encephalopathy presenting in adolescence. ²⁵	Fassone E...Rahman S	24099834	2013
41	Anesthetic considerations in patients with mitochondrial defects. ²⁵	Niezgoda J...Morgan PG	23534340	2013
42	SURF1 deficiency: a multi-centre natural history study. ²⁵	Wedatilake Y...Rahman S	23829769	2013
43	NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. ²⁵	Pitceathly RD...UK10K Consortium	23746447	2013
44	Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. ²⁵	Gerards M...Smeets H	23423671	2013
45	Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. ²⁵	Quinonez SC...Bedoyan JK	23290025	2013
46	Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. ²⁵	Vedrenne V...Rotig A	23084291	2012
47	EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. ²⁵	Martinelli D...Miller G	23010433	2012
48	Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. ²⁵	Ohlenbusch A...Brockmann K	22995659	2012
49	Complex I deficiency: clinical features, biochemistry and molecular genetics. ²⁵	Fassone E...Rahman S	22972949	2012
50	The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. ²⁵	Patel KP...Stacpoole PW	22896851	2012

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Genes for Nuclear Gene-Encoded Leigh Syndrome Spectrum

Genes related to Nuclear Gene-Encoded Leigh Syndrome Spectrum (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
2	COX10	Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
3	COX15	Cytochrome C Oxidase Assembly Homolog COX15	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
4	DLD	Dihydrolipoamide Dehydrogenase	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
5	FOXRED1	FAD Dependent Oxidoreductase Domain Containing 1	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
6	LRPPRC	Leucine Rich Pentatricopeptide Repeat Containing	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)

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Variations for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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Expression for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

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Pathways for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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

#	Super pathways	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.32	LRPPRC DLD COX15 COX10
2	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	11.49	COX15 COX10
3	Porphyrin and chlorophyll metabolism ³⁶ Show member pathways Formation of the active cofactor, UDP-glucuronate ⁶⁵ Glucuronidation ⁶⁵ Glucuronidation ¹ heme biosynthesis ¹ Heme biosynthesis ⁶⁵ Heme Biosynthesis ¹ heme biosynthesis from uroporphyrinogen-III I ¹ heme degradation ¹ Heme degradation ⁶⁵ Metabolism of porphyrins ⁶⁵ tetrapyrrole biosynthesis ¹	11.35	COX15 COX10
4	Biosynthesis of cofactors ³⁶ Show member pathways Ubiquinone and other terpenoid-quinone biosynthesis ³⁶	11.02	DLD COX15 COX10

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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

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Sources for Nuclear Gene-Encoded Leigh Syndrome Spectrum

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