MCID: LGH007
MIFTS: 65

Leigh Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Leigh Syndrome

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NIH Rare Diseases:41 Leigh syndrome is a rare inherited degenerative neurological condition that affects the central nervous system. it usually begins in infants between the ages of three months and two years. rarely, it occurs in teenagers and adults. signs and symptoms usually progress rapidly. the earliest signs may be poor sucking ability, and the loss of head control and motor skills. these symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. as the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. there are several different gene mutations that can cause this condition. leigh syndrome can be caused by mutations in mitochondrial dna or nuclear dna. last updated: 10/5/2011

MalaCards based summary: Leigh Syndrome, also known as leigh's disease, is related to mitochondrial dna-associated leigh syndrome and narp and mitochondrial complex i deficiency, and has symptoms including strabismus, nystagmus and muscular hypotonia. An important gene associated with Leigh Syndrome is SURF1 (surfeit 1), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Metformin Pathway, Pharmacodynamic. The compounds thenoyltrifluoroacetone and ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and kidney, and related mouse phenotype cellular.

Disease Ontology:9 A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

Genetics Home Reference:21 Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly.

OMIM:45 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting... (256000) more...

NINDS:42 Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.

Aliases & Classifications for Leigh Syndrome

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Leigh Syndrome, Aliases & Descriptions:

Name: Leigh Syndrome 45 9 41 21 43
Leigh's Disease 41 20 21 42 22
Leigh Disease 9 41 21 11 60
Leigh Syndrome Due to Mitochondrial Complex I Deficiency 45 60
Leigh Syndrome Due to Mitochondrial Complex 1 Deficiency 45 22
Leigh Syndrome Due to Cytochrome C Oxidase Deficiency 45 10
Infantile Subacute Necrotizing Encephalopathy 41 21
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 60
Necrotizing Encephalopathy Infantile Subacute of Leigh 41
Leigh Syndrome Due to Mitochondrial Cox4 Deficiency 45
Juvenile Subacute Necrotizing Encephalomyelopathy 9
 
Encephalopathy, Subacute Necrotizing, Infantile 60
Encephalopathy, Subacute Necrotizing, Juvenile 60
Juvenile Subacute Necrotizing Encephalopathy 21
Infantile Necrotizing Encephalomyelopathy 9
Subacute Necrotizing Encephalomyelopathy 21
Leigh Syndrome, Due to Cox Deficiency 45
Subacute Necrotizing Encephalopathy 41
Leigh's Necrotizing Encephalopathy 41
Sne 41
Ls 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 256000
Disease Ontology9 DOID:3652
ICD9CM27 330.8
SNOMED-CT55 29570005
NCIt38 C84814
MeSH33 D007888

Related Diseases for Leigh Syndrome

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Diseases in the Leigh Syndrome family:

Leigh-Like Syndrome

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial dna-associated leigh syndrome and narp31.2MT-ATP6, MT-ND5, MT-ND6, MT-TW
2mitochondrial complex i deficiency31.0FOXRED1, MT-ND6, MT-ND5, NDUFAF6, NDUFS7
3mitochondrial complex iv deficiency30.7SURF1, COX10, COX15
4leber hereditary optic neuropathy30.6MT-ND6, MT-ND5, NDUFS4
5mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes30.5MT-ND5, MT-ND6
6mitochondrial disorders30.4MT-ND5, MT-ATP6
7maternally inherited leigh syndrome10.7
8leigh syndrome, french-canadian type10.6
9lymphosarcoma10.5
10x-linked leigh syndrome10.4
11early myoclonic encephalopathy10.4NDUFS4, MT-ND5
12central pontine myelinolysis10.3
13beriberi10.3
14spasmus nutans10.3
15pyruvate carboxylase deficiency10.3
16lactic acidosis10.3SURF1, MT-ND5, NDUFS4
17brain disease10.3NDUFS4, BCS1L, MT-ND5, SURF1
18leukodystrophy10.3
19neuropathy10.3
20leigh syndrome with leukodystrophy10.3
21leigh syndrome with nephrotic syndrome10.3
22leigh syndrome with cardiomyopathy10.3
23leigh-like syndrome10.2
24lichen sclerosus10.2
25dystonia10.2
26peripheral neuropathy10.2
27neuroblastoma10.1
28cowpox10.1
29bell's palsy10.1
30coenzyme q10 deficiency, primary, 110.0
31wolff-parkinson-white syndrome10.0
32mitochondrial complex iii deficiency, nuclear type 210.0
33striatonigral degeneration, infantile10.0
34moyamoya disease10.0
35biotinidase deficiency10.0
363-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome10.0
37sulfite oxidase deficiency10.0
38west syndrome10.0
39cataract10.0
40pearson syndrome10.0
41basal ganglia disease10.0
42hypertrichosis10.0
43myopathy10.0
44nonsyndromic deafness10.0
45coq-responsive oxphos deficiency10.0
46growth hormone deficiency10.0
47infantile apnea10.0
48ataxia10.0
49myoclonus10.0
50pelizaeus-merzbacher disease10.0

Graphical network of the top 20 diseases related to Leigh Syndrome:



Diseases related to leigh syndrome

Symptoms for Leigh Syndrome

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Symptoms by clinical synopsis from OMIM:

256000

Clinical features from OMIM:

256000

HPO human phenotypes related to Leigh Syndrome:

(show all 41)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 nystagmus hallmark (90%) HP:0000639
3 muscular hypotonia hallmark (90%) HP:0001252
4 respiratory insufficiency hallmark (90%) HP:0002093
5 incoordination hallmark (90%) HP:0002311
6 abnormality of movement hallmark (90%) HP:0100022
7 cognitive impairment hallmark (90%) HP:0100543
8 ophthalmoparesis typical (50%) HP:0000597
9 optic atrophy typical (50%) HP:0000648
10 seizures typical (50%) HP:0001250
11 autosomal recessive inheritance HP:0000007
12 sensorineural hearing impairment HP:0000407
13 pigmentary retinopathy HP:0000580
14 ophthalmoplegia HP:0000602
15 nystagmus HP:0000639
16 optic atrophy HP:0000648
17 emotional lability HP:0000712
18 hypertrichosis HP:0000998
19 intellectual disability HP:0001249
20 seizures HP:0001250
21 ataxia HP:0001251
22 muscular hypotonia HP:0001252
23 spasticity HP:0001257
24 dysarthria HP:0001260
25 global developmental delay HP:0001263
26 dystonia HP:0001332
27 hyperreflexia HP:0001347
28 hepatocellular necrosis HP:0001404
29 heterogeneous HP:0001425
30 mitochondrial inheritance HP:0001427
31 failure to thrive HP:0001508
32 increased serum lactate HP:0002151
33 gliosis HP:0002171
34 increased csf lactate HP:0002490
35 abnormal pattern of respiration HP:0002793
36 respiratory failure HP:0002878
37 lactic acidosis HP:0003128
38 infantile onset HP:0003593
39 progressive disorder HP:0003676
40 phenotypic variability HP:0003812
41 cns demyelination HP:0007305

Drugs & Therapeutics for Leigh Syndrome

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Drug clinical trials:

Search ClinicalTrials for Leigh Syndrome

Search NIH Clinical Center for Leigh Syndrome

Genetic Tests for Leigh Syndrome

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Genetic tests related to Leigh Syndrome:

id Genetic test Affiliating Genes
1 Leigh Syndrome (nuclear Dna Mutation)20 22 BCS1L, COX10, DLD, MTFMT, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS1, NDUFS3 (show all 18)

NDUFS4, NDUFS7, NDUFS8, NDUFV1, SCO1, SCO2, SDHA, SURF1

2 Leigh Syndrome (mtdna Mutation)20
3 Leigh Syndrome (mtdna Deletion)20
4 Leigh Syndrome Due to Mitochondrial Complex I Deficiency22
5 Leigh's Disease22

Anatomical Context for Leigh Syndrome

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MalaCards organs/tissues related to Leigh Syndrome:

31
Cerebellum, Spinal cord, Kidney, Thalamus, Liver

Animal Models for Leigh Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Leigh Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.7NDUFAF2, NDUFS4, BCS1L, COX15, COX10, MT-ND6

Publications for Leigh Syndrome

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Articles related to Leigh Syndrome:

(show top 50)    (show all 131)
idTitleAuthorsYear
1
Neurometabolic disease: Treating mitochondrial diseases with mTOR inhibitors--a potential treatment for Leigh syndrome? (24296657)
2014
2
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. (23423671)
2013
3
Childhood moyamoya disease accompanying Leigh syndrome. (24397103)
2013
4
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. (23266820)
2013
5
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
6
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. (22410471)
2012
7
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. (21982779)
2012
8
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. (21196529)
2011
9
Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. (20546952)
2010
10
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. (20019223)
2010
11
Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family. (20624914)
2010
12
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea. (19669818)
2010
13
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. (20819849)
2010
14
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. (19364667)
2009
15
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. (19503089)
2009
16
MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood. (19319673)
2009
17
PDH E1I^ deficiency with novel mutations in two patients with Leigh syndrome. (19924563)
2009
18
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. (19349200)
2009
19
Successful application of preimplantation genetic diagnosis for Leigh syndrome. (18778816)
2008
20
Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]. (18807927)
2008
21
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. (17604671)
2007
22
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. (18461509)
2007
23
Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. (17050673)
2006
24
Two new mutations in the MTATP6 gene associated with Leigh syndrome. (16217706)
2005
25
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. (16023078)
2005
26
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis. (15228605)
2004
27
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. (15214016)
2004
28
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. (14729820)
2004
29
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. (12812953)
2003
30
A novel mtDNA C11777A mutation in Leigh syndrome. (16120329)
2003
31
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. (12616398)
2003
32
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. (12925875)
2003
33
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. (12943968)
2003
34
MRI in Leigh syndrome with SURF1 gene mutation. (11782998)
2002
35
Mitochondrial DNA depletion in Leigh syndrome. (11955936)
2002
36
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates. (11804207)
2001
37
New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. (11279059)
2001
38
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. (10746561)
2000
39
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY. (11004438)
2000
40
Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome. (10622737)
1999
41
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. (10360771)
1999
42
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. (10443880)
1999
43
De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome. (9556461)
1998
44
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. (9837812)
1998
45
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. (8982956)
1996
46
Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome. (8781533)
1996
47
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. (8750605)
1995
48
Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome. (7625545)
1995
49
Mitochondrial DNA-Associated Leigh Syndrome and NARP (20301352)
1993
50
Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. (1655984)
1991

Variations for Leigh Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Leigh Syndrome:

62 (show all 25)
id Symbol AA change Variation ID SNP ID
1COX15p.Arg217TrpVAR_019596rs28939711
2COX15p.Ser344ProVAR_033117
3MT-ATP6p.Leu156ArgVAR_000793
4MT-ATP6p.Leu156ProVAR_000794
5MT-ATP6p.Leu217ProVAR_000797
6MT-ND3p.Ala47ThrVAR_035092
7MT-ND5p.Phe124LeuVAR_035424
8NDUFAF5p.Leu159PheVAR_067956
9NDUFS8p.Pro79LeuVAR_019538rs28939679
10NDUFS8p.Arg102HisVAR_019539
11NDUFV1p.Thr423MetVAR_008847
12POLGp.Gly848SerVAR_023675
13POLGp.Arg232HisVAR_058871
14SDHAp.Arg554TrpVAR_002449
15SDHAp.Ala524ValVAR_016878
16SURF1p.Gly124GluVAR_007450rs28933402
17SURF1p.Ile246ThrVAR_007452
18SURF1p.Gly124ArgVAR_015258
19SURF1p.Tyr274AspVAR_015259
20SURF1p.Leu90ProVAR_068649
21SURF1p.Val177GlyVAR_068650
22SURF1p.Gly205GluVAR_068651
23SURF1p.Met235ThrVAR_068652
24SURF1p.Ala248AspVAR_068653
25SURF1p.Gly257ArgVAR_068654

Clinvar genetic disease variations for Leigh Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453
2MT-TVm.1624C> Tsingle nucleotide variantPathogenicrs199476144GRCh37Chr MT, 1624: 1624
3MT-TWm.5537_5538insTinsertionPathogenicrs199474672GRCh37Chr MT, 5537: 5538
4MT-TKm.8344A> Gsingle nucleotide variantPathogenicrs118192098GRCh37Chr MT, 8344: 8344
5MT-ATP6m.8993T> Gsingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
6MT-ATP6m.8993T> Csingle nucleotide variantPathogenicrs199476133GRCh37Chr MT, 8993: 8993
7MT-ATP6m.9176T> Csingle nucleotide variantPathogenicrs199476135GRCh37Chr MT, 9176: 9176
8MT-ATP6m.9185T> Csingle nucleotide variantPathogenicrs199476138GRCh37Chr MT, 9185: 9185
9MT-ATP6m.9176T> Gsingle nucleotide variantPathogenicrs199476135GRCh37Chr MT, 9176: 9176
10MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
11MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
12MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042

Expression for genes affiliated with Leigh Syndrome

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Search GEO for disease gene expression data for Leigh Syndrome.

Pathways for genes affiliated with Leigh Syndrome

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Compounds for genes affiliated with Leigh Syndrome

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Leigh Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone43 1211.4NDUFS4, SDHA
2ubiquinone4310.3NDUFS4, SDHA
3oligomycin4310.3NDUFS4, MT-ATP6
4iron-sulfur4310.0NDUFS8, SDHA
5Ubiquinol 82410.0SDHA, MT-ND6, MT-ND5, NDUFS3, NDUFS8, NDUFS7
6oxygen43 2410.9SDHA, SURF1, MT-ND6, MT-ATP6, NDUFS4
7QH2249.8NDUFA10, NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2
8Ubiquinone Q2249.8NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2, NDUFS3
9Sulfide249.7SDHA, MT-ND6, NDUFA10, NDUFS4, NDUFS7, NDUFA9
10nad28 2410.7MT-ND6, MT-ND5, NDUFA12, NDUFS3, NDUFA10, NDUFS4
11Ubiquinone Q1249.7MT-ND5, MT-ND6, SDHA, NDUFA10, NDUFS4, NDUFS7
12iron43 2410.6NDUFA10, NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2
13FAD249.6SDHA, FOXRED1, MT-ND6, NDUFA10, NDUFS4, NDUFS7
14nadh43 24 1211.4NDUFA10, SDHA, MT-ND6, MT-ATP6, MT-ND5, NDUFAF2

GO Terms for genes affiliated with Leigh Syndrome

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Cellular components related to Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chainGO:000574610.3COX15, SURF1
2mitochondrial membraneGO:00319669.9NDUFS3, NDUFA2, NDUFA9
3mitochondrial respiratory chain complex IGO:00057479.7NDUFA10, NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2
4mitochondrial inner membraneGO:00057439.4NDUFA10, SDHA, COX10, COX15, NDUFS4, NDUFS7
5mitochondrionGO:00057399.4SDHA, FOXRED1, COX10, COX15, BCS1L, NDUFA12

Biological processes related to Leigh Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1heme a biosynthetic processGO:000678410.5COX10, COX15
2respiratory chain complex IV assemblyGO:000853510.4COX15, COX10, SURF1
3mitochondrial electron transport, cytochrome c to oxygenGO:000612310.4COX10, COX15
4hydrogen ion transmembrane transportGO:0190260010.4COX15, COX10, SURF1
5cellular respirationGO:004533310.4COX10, COX15, NDUFS4
6porphyrin-containing compound metabolic processGO:000677810.4COX15, COX10
7aerobic respirationGO:000906010.3SURF1, COX10
8respiratory gaseous exchangeGO:000758510.3NDUFA12, COX15
9oxidation-reduction processGO:005511410.3COX15, SURF1, SDHA
10mitochondrial respiratory chain complex I assemblyGO:003298110.3BCS1L, NDUFAF6, NDUFS8, NDUFS7, NDUFS4
11heme biosynthetic processGO:000678310.2COX10, COX15
12mitochondrial electron transport, NADH to ubiquinoneGO:000612010.1NDUFA10, NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2
13reactive oxygen species metabolic processGO:007259310.0NDUFS4, NDUFS3
14respiratory electron transport chainGO:002290410.0NDUFA10, NDUFS4, NDUFS7, NDUFA9, NDUFS8, NDUFA2
15cellular metabolic processGO:004423710.0NDUFA2, NDUFS3, NDUFA12, SDHA, NDUFS8, NDUFA9
16small molecule metabolic processGO:00442819.7SDHA, COX10, COX15, NDUFA12, NDUFS3, NDUFA2

Molecular functions related to Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
14 iron, 4 sulfur cluster bindingGO:005153910.3NDUFS7, NDUFS8
2NADH dehydrogenase activityGO:000395410.0NDUFS3, NDUFS8, NDUFA9, NDUFS7
3cytochrome-c oxidase activityGO:00041299.9COX15, COX10, SURF1
4NADH dehydrogenase (ubiquinone) activityGO:00081379.7NDUFA10, NDUFA12, NDUFS3, NDUFA2, NDUFS8, NDUFA9

Products for genes affiliated with Leigh Syndrome

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Sources for Leigh Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet