LS
MCID: LGH001
MIFTS: 67

Leigh Disease (LS) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Leigh Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Leigh Disease, also known as leigh's disease, is related to cytochrome-c oxidase deficiency disease and mitochondrial dna-associated leigh syndrome and narp. An important gene associated with Leigh Disease is NDUFS7 (NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)), and among its related pathways are Cardiac muscle contraction and tRNA Aminoacylation. The compounds thenoyltrifluoroacetone and ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and kidney.

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.

NINDS:43 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.

Description from OMIM:46 256000,161700

Aliases & Classifications for Leigh Disease

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 46OMIM, 44Novoseek, 20GeneTests, 22GTR, 43NINDS, 48Orphanet, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
sporadic infantile subacute necrotizing encephalopathy:
Inheritance: Sporadic; Age of onset: Neonatal/infancy
maternally-inherited leigh syndrome:
Inheritance: Mitochondrial inheritance; Age of onset: Neonatal/infancy


Aliases & Descriptions:

leigh disease 8 21 10 60
leigh's disease 8 42 20 22 21 43
leigh syndrome 8 42 21 46 44
maternally-inherited leigh syndrome 48 46
mils 48 60
maternally-inherited infantile subacute necrotizing encephalopathy 48
necrotizing encephalopathy infantile subacute of leigh 42
sporadic infantile subacute necrotizing encephalopathy 48
encephalopathy, subacute necrotizing, infantile 60
encephalopathy, subacute necrotizing, juvenile 60
infantile subacute necrotizing encephalopathy 21
juvenile subacute necrotizing encephalopathy 21
infantile necrotizing encephalomyelopathy 8
subacute necrotizing encephalomyelopathy 21
maternally inherited leigh syndrome 60
maternally-inherited leigh disease 48
leigh's necrotizing encephalopathy 42
sporadic leigh syndrome 48
sporadic leigh disease 48
sne 42
ls 42


External Ids:

Disease Ontology8 DOID:3652
NCIt39 C84814
SNOMED-CT56 29570005
MeSH34 D007888
ICD10 via Orphanet26 G31.8

Related Diseases for Leigh Disease

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17GeneCards, 18GeneDecks
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Diseases in the Leigh Disease family:

Leigh-Like Syndrome

Diseases related to Leigh Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1cytochrome-c oxidase deficiency disease30.5MT-CO2, MT-CO1
2mitochondrial dna-associated leigh syndrome and narp30.4MT-ND3, MT-CO3, MT-ND2, MT-TL1, MT-TV, MT-TK
3melas syndrome30.2MT-ND5, MT-TL1
4mitochondrial complex i deficiency30.2NDUFS7, MT-ND3, MT-ND5, MT-ND6
5myopathy29.9NDUFS4
6brain disease29.9MT-ND5, BCS1L, NDUFS4
7mitochondrial disorders29.9MT-CO3, MT-CO1, MT-ATP6
8leber hereditary optic neuropathy29.9MT-CO1, MT-CO3, MT-ND5, MT-ND4, MT-ND1, MT-ND6
9lymphosarcoma10.4
10x-linked leigh syndrome10.3
11pyruvate decarboxylase deficiency10.3
12central pontine myelinolysis10.3
13beriberi10.3
14pyruvate carboxylase deficiency disease10.2
15leukodystrophy10.2
16leigh syndrome due to mitochondrial complex i deficiency10.2
17leigh syndrome, french canadian type10.1
18wolff-parkinson-white syndrome10.1
19epilepsy syndrome10.1
20optic atrophy10.1
21image syndrome10.1
22leigh syndrome, due to cox deficiency10.1
23leigh syndrome due to cytochrome c oxidase deficiency10.1
24cowpox10.1
25laron syndrome10.1
26hirschsprung's disease10.1
27intestinal disease10.1
28neuroblastoma10.1
29bell's palsy10.0
30benign recurrent intrahepatic cholestasis 210.0
31choroiditis10.0
32pelizaeus-merzbacher disease10.0
33lennox-gastaut syndrome10.0
34cochlear disease10.0
35choroid disease10.0
36eye disease10.0
37neuropathy10.0
38peripheral neuropathy10.0
39spinocerebellar degeneration10.0
40maternally inherited leigh syndrome10.0
41coenzyme q10 deficiency, primary, 110.0
42leigh syndrome with leukodystrophy10.0
43leigh syndrome with cardiomyopathy10.0
44opa3-related 3-methylglutaconic aciduria10.0MT-ND4
45moyamoya disease10.0
46pearson syndrome10.0
47fukuyama congenital muscular dystrophy10.0
48west syndrome10.0
49biotin-responsive basal ganglia disease10.0
50biotinidase deficiency10.0

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



Diseases related to leigh disease

Clinical Features for Leigh Disease

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46OMIM
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Clinical features from OMIM:

256000,161700

Clinical synopsis from OMIM:

161700

Drugs & Therapeutics for Leigh Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Leigh Disease

Drug clinical trials:

Search ClinicalTrials for Leigh Disease

Search NIH Clinical Center for Leigh Disease

Search CenterWatch for Leigh Disease

Genetic Tests for Leigh Disease

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20GeneTests, 22GTR
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Genetic tests related to Leigh Disease:

id Genetic test Affiliating Genes
1 Leigh Syndrome (nuclear Dna Mutation)20 22 SDHA, BCS1L, SURF1, DLD, MTFMT, SCO2, SCO1, NDUFS7, NDUFS1, NDUFAF6 (show all 18)

NDUFA1, NDUFS4, NDUFS8, NDUFV1, NDUFA10, NDUFS3, NDUFAF2, COX10

2 Leigh Syndrome (mtdna Mutation)20
3 Leigh Syndrome (mtdna Deletion)20
4 Leigh's Disease22

Anatomical Context for Leigh Disease

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32MalaCards
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MalaCards organs/tissues related to Leigh Disease:

32
Cerebellum, Spinal cord, Kidney, Thalamus, Eye, Brain

Animal Models for Leigh Disease or affiliated genes

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Publications for Leigh Disease

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50PubMed
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Articles related to Leigh Disease:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. (24063851)
2013
2
The "Double Panda" Sign in Leigh Disease. (23599247)
2013
3
Childhood moyamoya disease accompanying Leigh syndrome. (24397103)
2013
4
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
5
Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease. (23389837)
2013
6
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. (24341803)
2013
7
Anesthetic considerations in Leigh disease: Case report and literature review. (22754450)
2012
8
Adult Leigh disease without failure to thrive. (21712670)
2011
9
Subthalamic nuclei involvement in Leigh disease with cytochrome c oxidase deficiency. (21748946)
2011
10
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. (21150889)
2011
11
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. (20202874)
2010
12
MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood. (19319673)
2009
13
NDUFA2 complex I mutation leads to Leigh disease. (18513682)
2008
14
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. (18495510)
2008
15
Answer to case of the month #110. Magnetic resonance imaging and spectroscopy in Leigh disease. (16881477)
2006
16
Bull's-eye maculopathy in an infant with Leigh disease. (16815282)
2006
17
Outpatient anesthesia for oral surgery in a juvenile with Leigh disease. (16048155)
2005
18
Cochlear degeneration in leigh disease: histopathologic features. (15564853)
2004
19
Self-inflicted orodental injury in a child with Leigh disease. (14706032)
2004
20
Burden of proof in the postmortem diagnosis of mitochondrial disease: Leigh disease. (15630530)
2004
21
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
22
Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review. (12661941)
2003
23
Leigh disease associated with a novel mitochondrial DNA ND5 mutation. (11938446)
2002
24
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. (12026244)
2002
25
Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. (11510939)
2001
26
Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency. (11510937)
2001
27
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. (10872106)
2000
28
Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease. (10207933)
1999
29
Quiz case of the month. Subacute necrotizing mitochondrial encephalopathy (Leigh disease). (9440999)
1997
30
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. (8559379)
1996
31
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. (8652022)
1996
32
Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive Mark of Leigh disease with COX deficiency. (7502989)
1995
33
Leigh disease (subacute necrotizing encephalomyelopathy): report of one case. (8213161)
1993
34
Leigh disease (subacute necrotizing encephalomyelopathy): MR documentation of the evolution of an acute attack. (8237695)
1993
35
Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy. (1558578)
1992
36
Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances. (2287541)
1990
37
Ultrasonography and magnetic resonance imaging in Leigh disease. (2242175)
1990
38
Respiratory insufficiency following chloral hydrate sedation in two children with Leigh disease (subacute necrotizing encephalomyelopathy). (2336293)
1990
39
Leigh disease: value of CT in presymptomatic patients and variability of the lesions with time. (2925905)
1989
40
Pelizaeus-Merzbacher disease with thiamine deficiency or Leigh disease with extensive involvement of white matter? Case report. (2548793)
1989
41
Mitochondrial abnormalities in choroid plexus of Leigh disease. (3285724)
1988
42
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). (3103091)
1987
43
Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE). (6437963)
1984
44
Putaminal lesions in Leigh disease. (7114815)
1982
45
Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. (7200213)
1982
46
Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease). (7294735)
1981
47
Chronic Leigh Disease: a genetic and biochemical study. (6246834)
1980
48
Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease). (119480)
1979
49
Thiamine triphosphate levels and histopathology. Correlation in Leigh disease. (985153)
1976
50
Subacute necrotizing encephalomyelopathy. Rapidly fatal course of Leigh disease in a 5-year-old child. (4825591)
1974

Genetic Variations for Leigh Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Leigh Disease:

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

Expression for genes affiliated with Leigh Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leigh Disease

Search GEO for disease gene expression data for Leigh Disease.

Pathways for genes affiliated with Leigh Disease

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Leigh Disease

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Leigh Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1111.2SDHA, NDUFS4
2ubiquinone4410.2SDHA, MT-ND4, NDUFS4
3oligomycin4410.0MT-ATP6, NDUFS4
4solium449.9MT-CO1, MT-ND1, MT-ATP6
5nad+449.9NDUFS4, MT-ND4, SDHA
6succinate449.9NDUFS4, MT-ND4, MT-CO1, SDHA
7rotenone449.8MT-ND1, MT-ND6, NDUFS4
8pyruvate449.7MT-ND3, MT-ND4, MT-ND1, NDUFS4
9cholic acid44 28 11 2412.7MT-CO2, MT-CO3, MT-CO1
10citrate449.6NDUFS4, MT-CO2, MT-CO3, MT-CO1
11N-Formylmethionine119.5MT-CO2, MT-ND1, MT-CO3, MT-CO1
12lactate449.4MT-ND4, MT-ND1, MT-CO2, NDUFS4
13valine449.3MT-ND6, MT-ND1, MT-ND4, MT-ND5, MT-ND2
14methionine449.3MT-ND6, MT-ND1, MT-ND5, MT-ND2
15threonine449.2NDUFS4, MT-ND1, MT-ND4, MT-ND5, MT-ND3, MT-ND2
16oxygen44 249.8NDUFS4, MT-ND6, MT-CO2, MT-ATP6, MT-CO1, MT-ND2
17alanine448.8MT-ND6, MT-ND1, MT-ND5, MT-ND3, MT-ND2
18nad28 249.7NDUFA10, NDUFS4, NDUFS7, MT-ND6, MT-ND1, MT-ND4
19atp44 289.6NDUFS4, MT-CO2, MT-ATP6, MT-ND1, MT-ND4, MT-ND5
20iron44 249.4NDUFA10, NDUFS4, NDUFS7, MT-ND6, MT-ND1, MT-ND4
21nadh44 11 249.2SDHA, NDUFAF2, NDUFA10, NDUFS4, NDUFS7, MT-ND6

GO Terms for genes affiliated with Leigh Disease

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16Gene Ontology
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Cellular components related to Leigh Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.8SDHA, NDUFS7, NDUFS4, NDUFA10
2mitochondrial respiratory chain complex IGO:0057479.7NDUFS7, NDUFS4, NDUFA10

Biological processes related to Leigh Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:00612010.0NDUFS7, NDUFS4, NDUFA10
2mitochondrial respiratory chain complex I assemblyGO:03298110.0BCS1L, NDUFS7, NDUFS4
3respiratory electron transport chainGO:0229049.7SDHA, NDUFS7, NDUFS4, NDUFA10
4cellular metabolic processGO:0442379.5NDUFA10, NDUFS4, NDUFS7, SDHA

Molecular functions related to Leigh Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:0081379.8NDUFS7, NDUFS4, NDUFA10, NDUFAF2

Products for genes affiliated with Leigh Disease

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Sources for Leigh Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet