LS
MCID: LGH001
MIFTS: 56

Leigh Disease (LS) malady

Metabolic category

Summaries for Leigh Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 spinal cord, brain 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:44 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:47 256000,161700

Aliases & Classifications for Leigh Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 61
leigh's disease 8 43 20 22 21 44
leigh syndrome 8 43 21 47 45
maternally-inherited leigh syndrome 49 47
mils 49 61
maternally-inherited infantile subacute necrotizing encephalopathy 49
sporadic infantile subacute necrotizing encephalopathy 49
necrotizing encephalopathy infantile subacute of leigh 43
encephalopathy, subacute necrotizing, infantile 61
encephalopathy, subacute necrotizing, juvenile 61
infantile subacute necrotizing encephalopathy 21
juvenile subacute necrotizing encephalopathy 21
infantile necrotizing encephalomyelopathy 8
subacute necrotizing encephalomyelopathy 21
maternally inherited leigh syndrome 61
leigh's necrotizing encephalopathy 43
maternally-inherited leigh disease 49
sporadic leigh syndrome 49
sporadic leigh disease 49
sne 43
ls 43


External Ids:

Disease Ontology8 DOID:3652
NCIt40 C84814
SNOMED-CT57 29570005
MeSH35 D007888
ICD10 via Orphanet26 G31.8

Related Diseases for Leigh Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Leigh Disease family:

leigh-like syndrome leigh syndrome with leukodystrophy
leigh syndrome with cardiomyopathy

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 disease30.6MT-CO1, MT-CO2
2mitochondrial dna-associated leigh syndrome and narp30.4MT-CO3, MT-TW, MT-ND2, MT-TL1, MT-TV, MT-TK
3brain disease30.3NDUFS4, MT-ND5, BCS1L
4melas syndrome30.2MT-TL1, MT-ND5
5mitochondrial complex i deficiency30.0NDUFS7, MT-ND6, MT-ND5, MT-ND3
6mitochondrial disorders29.9MT-ATP6, MT-CO3, MT-CO1
7leber hereditary optic neuropathy29.9MT-ND6, MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-CO3
8lymphosarcoma10.4
9x-linked leigh syndrome10.3
10pyruvate decarboxylase deficiency10.3
11central pontine myelinolysis10.3
12beriberi10.3
13spasmus nutans10.3
14pyruvate carboxylase deficiency disease10.2
15leigh syndrome due to mitochondrial complex i deficiency10.2
16leigh syndrome, french canadian type10.2
17maternally inherited leigh syndrome10.2
18lip disease10.2
19wolff-parkinson-white syndrome10.1
20leigh syndrome, due to cox deficiency10.1
21leigh syndrome due to cytochrome c oxidase deficiency10.1
22cowpox10.1
23laron syndrome10.1
24hirschsprung's disease10.1
25lichen sclerosus10.1
26bell's palsy10.0
27benign recurrent intrahepatic cholestasis 210.0
28back pain10.0
29pelizaeus-merzbacher disease10.0
30lennox-gastaut syndrome10.0
31cochlear disease10.0
32n syndrome10.0
33spinocerebellar degeneration10.0
34alpha-ketoglutarate dehydrogenase deficiency10.0
35lipoamide dehydrogenase deficiency10.0
36guillain-barr� syndrome10.0
37sleep apnea10.0
38coenzyme q10 deficiency, primary, 110.0
39leigh syndrome with leukodystrophy10.0
40leigh syndrome with cardiomyopathy10.0
41moyamoya disease10.0
42pearson syndrome10.0
43fukuyama congenital muscular dystrophy10.0
44west syndrome10.0
45biotin-responsive basal ganglia disease10.0
46mu chain disease10.0
47biotin deficiency10.0
48biotinidase deficiency10.0
49adult syndrome10.0
50basal ganglia disease10.0

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



Diseases related to leigh disease

Clinical Features for Leigh Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

256000,161700

Clinical synopsis from OMIM:

161700

Drugs & Therapeutics for Leigh Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Leigh Disease:

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's Disease22

Anatomical Context for Leigh Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Leigh Disease:

33
Spinal cord, Brain, Kidney, Cerebellum, Thalamus

Animal Models for Leigh Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Leigh Disease

Sources:
51PubMed
See all sources

Articles related to Leigh Disease:

(show top 50)    (show all 83)
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
Adult Leigh disease without failure to thrive. (21712670)
2011
6
Subthalamic nuclei involvement in Leigh disease with cytochrome c oxidase deficiency. (21748946)
2011
7
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. (21150889)
2011
8
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. (20202874)
2010
9
Leigh's disease associated with a dorsal midbrain syndrome. (19791729)
2009
10
MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood. (19319673)
2009
11
Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]. (18807927)
2008
12
NDUFA2 complex I mutation leads to Leigh disease. (18513682)
2008
13
High prevalence of infantile encephalitic beriberi with overlapping features of Leigh's disease. (18467350)
2008
14
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease. (17908801)
2008
15
Mitochondrial Leukodystrophy: an Unusual Manifestation of Leigh's Disease. A Report of Three Cases and Review of the Literature. (24299665)
2007
16
Leigh's disease due to a new mutation in the PDHX gene. (16566017)
2006
17
Answer to case of the month #110. Magnetic resonance imaging and spectroscopy in Leigh disease. (16881477)
2006
18
Outpatient anesthesia for oral surgery in a juvenile with Leigh disease. (16048155)
2005
19
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. (16225813)
2005
20
Self-inflicted orodental injury in a child with Leigh disease. (14706032)
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 associated with a novel mitochondrial DNA ND5 mutation. (11938446)
2002
23
Neuropathologic and clinical features in eight Chinese patients with Leigh disease. (12174968)
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
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. (9837813)
1998
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
Deficiency of respiratory chain complex I is a common cause of Leigh disease. (8687187)
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): MR documentation of the evolution of an acute attack. (8237695)
1993
34
Leigh's disease with clinical manifestations of Cornelia de Lange syndrome. (1822133)
1991-1992
35
Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. (1848464)
1991
36
Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances. (2287541)
1990
37
Ultrasonography and magnetic resonance imaging in Leigh disease. (2242175)
1990
38
Leigh disease: value of CT in presymptomatic patients and variability of the lesions with time. (2925905)
1989
39
Pelizaeus-Merzbacher disease with thiamine deficiency or Leigh disease with extensive involvement of white matter? Case report. (2548793)
1989
40
Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease. (2821802)
1987
41
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. (3762868)
1986
42
Variability of serial CT scans in subacute necrotizing encephalomyelopathy (Leigh disease). (3880389)
1985
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
Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. (7099758)
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Leigh Disease:

63 (show all 25)
id Symbol AA change Variation 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
8p.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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Leigh Disease

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

Compounds related to Leigh Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1111.2SDHA, NDUFS4
2ubiquinone4510.2SDHA, MT-ND4, NDUFS4
3oligomycin4510.0MT-ATP6, NDUFS4
4solium459.9MT-CO1, MT-ND1, MT-ATP6
5nad+459.9NDUFS4, MT-ND4, SDHA
6succinate459.9NDUFS4, MT-ND4, MT-CO1, SDHA
7rotenone459.8MT-ND1, MT-ND6, NDUFS4
8pyruvate459.7MT-ND3, MT-ND4, MT-ND1, NDUFS4
9cholic acid45 29 11 2412.7MT-CO2, MT-CO3, MT-CO1
10citrate459.6NDUFS4, MT-CO2, MT-CO3, MT-CO1
11N-Formylmethionine119.5MT-CO2, MT-ND1, MT-CO3, MT-CO1
12lactate459.4MT-ND4, MT-ND1, MT-CO2, NDUFS4
13valine459.3MT-ND6, MT-ND1, MT-ND4, MT-ND5, MT-ND2
14methionine459.3MT-ND6, MT-ND1, MT-ND5, MT-ND2
15threonine459.2NDUFS4, MT-ND1, MT-ND4, MT-ND5, MT-ND3, MT-ND2
16oxygen45 249.8NDUFS4, MT-ND6, MT-CO2, MT-ATP6, MT-CO1, MT-ND2
17alanine458.8MT-ND6, MT-ND1, MT-ND5, MT-ND3, MT-ND2
18nad29 249.7NDUFA10, NDUFS4, NDUFS7, MT-ND6, MT-ND1, MT-ND4
19atp45 299.6NDUFS4, MT-CO2, MT-ATP6, MT-ND1, MT-ND4, MT-ND5
20iron45 249.4NDUFA10, NDUFS4, NDUFS7, MT-ND6, MT-ND1, MT-ND4
21nadh45 11 249.2SDHA, NDUFAF2, NDUFA10, NDUFS4, NDUFS7, MT-ND6

GO Terms for genes affiliated with Leigh Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leigh Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet