LS
MCID: LGH007
MIFTS: 70

Leigh Syndrome (LS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Leigh Syndrome

Aliases & Descriptions for Leigh Syndrome:

Name: Leigh Syndrome 54 12 50 24 24 24 24 25 66 52
Leigh Disease 12 50 24 25 66 42 14 69
Leigh's Disease 50 25 51 29
Leigh Syndrome Due to Mitochondrial Complex I Deficiency 54 24 66
Leigh Syndrome Due to Cytochrome C Oxidase Deficiency 54 24 13
Sne 50 24 66
Ls 50 24 66
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 66 29
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency 66 29
Leigh Syndrome Due to Mitochondrial Complex 1 Deficiency 54 29
Necrotizing Encephalopathy Infantile Subacute of Leigh 50 66
Infantile Subacute Necrotizing Encephalopathy 50 25
Subacute Necrotizing Encephalomyelopathy 12 25
Cardiomyopathy with Hypotonia Due to Cytochrome C Oxidase Deficiency 56
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 56
Necrotizing Encephalopathy, Infantile, Subacute, of Leigh 24
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency 66
Leigh Syndrome Due to Mitochondrial Complex V Deficiency 66
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 69
Leigh Syndrome Due to Mitochondrial Cox4 Deficiency 54
Cardiomyopathy with Myopathy Due to Cox Deficiency 56
Juvenile Subacute Necrotizing Encephalomyelopathy 12
Encephalopathy, Subacute Necrotizing, Infantile 69
Encephalopathy, Subacute Necrotizing, Juvenile 69
Juvenile Subacute Necrotizing Encephalopathy 25
Infantile Necrotizing Encephalomyelopathy 12
Leigh Syndrome, Due to Cox Deficiency 54
Subacute Necrotizing Encephalopathy 50
Maternally Inherited Leigh Syndrome 69
Maternally-Inherited Leigh Syndrome 56
Leigh's Necrotizing Encephalopathy 50
Maternally-Inherited Leigh Disease 56
Leigh Syndrome with Cardiomyopathy 56
Leigh Disease with Myopathy 56
Mils 56

Characteristics:

Orphanet epidemiological data:

56
maternally-inherited leigh syndrome
Inheritance: Mitochondrial inheritance; Age of onset: Childhood,Infancy;


Classifications:



External Ids:

OMIM 54 256000
Disease Ontology 12 DOID:3652
ICD10 33 G31.82
MeSH 42 D007888
NCIt 47 C84814
SNOMED-CT 64 29570005
UMLS via Orphanet 70 C2931092
ICD10 via Orphanet 34 G31.8
UMLS 69 C0023264

Summaries for Leigh Syndrome

NIH Rare Diseases : 50 leigh syndrome is a rare, inherited neurodegenerative condition. it usually becomes apparent in infancy, often after a viral infection. rarely, it begins in the teenage or adult years. signs and symptoms usually progress rapidly. early symptoms may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures. as the condition progresses, symptoms may include weakness and lack of muscle tone; spasticity; movement disorders; cerebellar ataxia; and peripheral neuropathy. complications can lead to impairment of respiratory, heart and kidney function. the term "leigh-like syndrome" is often used for people with features that are strongly suggestive of leigh syndrome but who do not meet the diagnostic criteria.  the inheritance of leigh syndrome depends on where the responsible gene is located in each case. this is because it can be due to mutations in either mitochondrial dna or nuclear dna:mitochondrial dna-associated leigh syndrome follows a mitochondrial inheritance pattern (also called maternal inheritance). nuclear gene-encoded leigh syndrome may be inherited in an autosomal recessive or x-linked manner. treatment is based on the symptoms present and depends on the type of leigh syndrome a person has. while life expectancy depends on the cause of leigh syndrome in each person, most do not survive past mid-childhood or adolescence. last updated: 12/27/2016

MalaCards based summary : Leigh Syndrome, also known as leigh disease, is related to mitochondrial dna-associated leigh syndrome and leigh syndrome, french-canadian type, and has symptoms including ataxia, seizures and dystonia. An important gene associated with Leigh Syndrome is SURF1 (SURF1, Cytochrome C Oxidase Assembly Factor), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Calcium carbonate and Oseltamivir have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and cerebellum, and related phenotype is Decreased shRNA abundance.

Disease Ontology : 12 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 : 25 Leigh syndrome is a severe neurological disorder that usually becomes apparent 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 two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.

OMIM : 54 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting... (256000) more...

NINDS : 51 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. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease 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.  

UniProtKB/Swiss-Prot : 66 Leigh syndrome: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.

Wikipedia : 71 Leigh disease (also called Leigh syndrome and subacute necrotizing encephalomyelopathy) is a rare... more...

Related Diseases for Leigh Syndrome

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 90)
id Related Disease Score Top Affiliating Genes
1 mitochondrial dna-associated leigh syndrome 12.2
2 leigh syndrome, french-canadian type 12.2
3 nuclear gene-encoded leigh syndrome 12.2
4 mitochondrial dna-associated leigh syndrome and narp 12.0
5 x-linked leigh syndrome 11.8
6 leigh syndrome with leukodystrophy 11.7
7 leigh syndrome with nephrotic syndrome 11.7
8 mitochondrial complex i deficiency 11.4
9 lichen sclerosus 11.3
10 mitochondrial complex iv deficiency 11.0
11 pyruvate carboxylase deficiency 11.0
12 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.9
13 coenzyme q10 deficiency, primary, 1 10.9
14 cholestasis, benign recurrent intrahepatic, 2 10.9
15 legius syndrome 10.8
16 larsen syndrome 10.8
17 mitochondrial complex ii deficiency 10.7
18 combined oxidative phosphorylation deficiency 15 10.7
19 coenzyme q10 deficiency, primary, 5 10.7
20 mitochondrial complex iii deficiency, nuclear type 2 10.7
21 striatonigral degeneration, infantile 10.7
22 3-hydroxyisobutryl-coa hydrolase deficiency 10.7
23 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.7
24 mitochondrial infantile bilateral striatal necrosis 10.7
25 coenzyme q10 deficiency, primary, 3 10.7
26 moloney syndrome 10.5 COX15 MT-ATP6 NDUFA12 NDUFS3
27 myopathy with deficiency of iscu 10.5 COX15 NDUFA10 NDUFA12 NDUFS3 NDUFS4 NDUFS7
28 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 10.5 COX15 NDUFA10 NDUFA12 NDUFS3 NDUFS4 NDUFS7
29 lentigo maligna melanoma 10.4 MT-ND1 MT-ND3 MT-ND4 MT-ND6
30 polyhydramnios, megalencephaly, and symptomatic epilepsy 10.4 COX15 SURF1
31 enteropathica 10.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6
32 allergic contact dermatitis of eyelid 10.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6
33 hereditary breast ovarian cancer 10.4 NDUFS3 NDUFS4
34 carotid body cancer 10.4 MT-ATP6 MT-ND1 MT-ND4 MT-ND5 MT-ND6
35 polr3-related leukodystrophy 10.4 NDUFA12 NDUFS7
36 autoimmune interstitial lung, joint, and kidney disease 10.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
37 syphilitic encephalitis 10.4 MT-ND3 MT-ND5 MT-TL1
38 parkinson disease 6, early onset 10.4 MT-ND5 MT-ND6
39 mucinous intrahepatic cholangiocarcinoma 10.4 COX15 MT-ATP6 MT-ND3 MT-ND4 MT-ND5 MT-ND6
40 cylindrical spirals myopathy 10.4 MT-ATP6 MT-TK
41 histoplasmosis retinitis 10.3 MT-ND4 MT-TV MT-TW
42 nerve fibre bundle defect 10.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
43 alopecia, androgenetic, 2 10.3 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5
44 cardiomyopathy, fatal fetal, due to myocardial calcification 10.3 COX15 SURF1
45 dsg2-related dilated cardiomyopathy 10.3 MT-TK MT-TL1
46 mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type 10.3 MT-ND1 MT-ND2
47 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 10.3 MT-TK MT-TL1
48 mental retardation with spastic paraplegia 10.3 MT-ATP6 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
49 multiple epiphyseal dysplasia with robin phenotype 10.3 MT-ND4 MT-ND5 MT-TK MT-TL1
50 microlissencephaly iii 10.3 MT-TK MT-TL1

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



Diseases related to Leigh Syndrome

Symptoms & Phenotypes for Leigh Syndrome

Symptoms by clinical synopsis from OMIM:

256000

Clinical features from OMIM:

256000

Human phenotypes related to Leigh Syndrome:

32 (show all 34)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 dystonia 32 HP:0001332
4 ophthalmoplegia 32 HP:0000602
5 ptosis 32 HP:0000508
6 nystagmus 32 HP:0000639
7 emotional lability 32 HP:0000712
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 spasticity 32 HP:0001257
11 dysarthria 32 HP:0001260
12 hyperreflexia 32 HP:0001347
13 failure to thrive 32 HP:0001508
14 respiratory insufficiency 32 HP:0002093
15 global developmental delay 32 HP:0001263
16 sensorineural hearing impairment 32 HP:0000407
17 optic atrophy 32 HP:0000648
18 cognitive impairment 32 HP:0100543
19 abnormality of movement 32 HP:0100022
20 hemiplegia/hemiparesis 32 HP:0004374
21 strabismus 32 HP:0000486
22 increased serum lactate 32 HP:0002151
23 lactic acidosis 32 HP:0003128
24 respiratory failure 32 HP:0002878
25 abnormal pattern of respiration 32 HP:0002793
26 gliosis 32 HP:0002171
27 pigmentary retinopathy 32 HP:0000580
28 hypertrichosis 32 HP:0000998
29 increased csf lactate 32 HP:0002490
30 progressive spastic paraplegia 32 HP:0007020
31 cns demyelination 32 HP:0007305
32 progressive ophthalmoplegia 32 HP:0007650
33 hepatocellular necrosis 32 HP:0001404
34 decreased activity of mitochondrial respiratory chain 32 HP:0008972

UMLS symptoms related to Leigh Syndrome:


ataxia, muscle spasticity, ophthalmoplegia, seizures

GenomeRNAi Phenotypes related to Leigh Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.02 NDUFA10 NDUFS3 NDUFS7 NDUFS8 SDHA

Drugs & Therapeutics for Leigh Syndrome

Drugs for Leigh Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 252)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved Phase 4,Phase 1 471-34-1
2
Oseltamivir Approved Phase 4,Phase 1 204255-11-8, 196618-13-0 65028
3
Carbidopa Approved Phase 4 28860-95-9 34359 38101
4
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
5
Entacapone Approved, Investigational Phase 4 130929-57-6 5281081
6
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
7
Pantoprazole Approved Phase 4 102625-70-7 4679
8
Budesonide Approved Phase 4 51333-22-3 63006 5281004
9
Norepinephrine Approved Phase 4 51-41-2 439260
10 Anti-Infective Agents Phase 4,Phase 2,Phase 1
11 Antiviral Agents Phase 4,Phase 2,Phase 1
12 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
13 Antiparkinson Agents Phase 4,Phase 3,Phase 2
14 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
15 Catechol O-Methyltransferase Inhibitors Phase 4
16 Dopamine Agents Phase 4,Phase 3,Phase 1,Phase 2
17 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Antacids Phase 4,Phase 3
19 Anti-Ulcer Agents Phase 4,Phase 3
20 Gastrointestinal Agents Phase 4,Phase 3,Phase 1
21
Proton pump inhibitors Phase 4,Phase 3
22 Adrenergic Agents Phase 4,Phase 2
23 Adrenergic Agonists Phase 4
24 Adrenergic beta-2 Receptor Agonists Phase 4
25 Adrenergic beta-Agonists Phase 4
26 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3
27 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
28 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Bronchodilator Agents Phase 4
30 Budesonide, Formoterol Fumarate Drug Combination Phase 4
31 Formoterol Fumarate Phase 4
32 glucocorticoids Phase 4,Phase 3,Phase 1
33 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
37 Respiratory System Agents Phase 4,Phase 2,Phase 3
38 Analgesics Phase 4,Phase 3,Phase 2
39 Antidepressive Agents Phase 4,Phase 2
40 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
41 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
42
Serotonin Phase 4,Phase 2 50-67-9 5202
43 Duloxetine Hydrochloride Phase 4
44 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
45 Catechol Nutraceutical Phase 4
46
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
47
Ropinirole Approved, Investigational Phase 3 91374-20-8, 91374-21-9 5095 497540
48
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
49
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 119141-88-7 4594 9579578
50
Gliclazide Approved Phase 3 21187-98-4 3475

Interventional clinical trials:

(show top 50) (show all 127)
id Name Status NCT ID Phase
1 Stalevo in Early Wearing-Off Patients Completed NCT00125567 Phase 4
2 Determination of a Questionnaire After Treatment With Pantoprazole at Full Dose and Half Dose in Adult Patients With Symptoms of Acid Reflux (Gastroesophageal Reflux Disease) (BY1023/UK-506) Completed NCT00261339 Phase 4
3 Study to Evaluate the Mastery of Inhaler Technique for Budesonide Formoterol (BF) SPIROMAX® as Compared to SYMBICORT® TURBOHALER® as Treatment for Adult Patients With Asthma Completed NCT02062463 Phase 4
4 Surgical Application of Vac Dressings In Obese Patients to Reduce Wound Complications Recruiting NCT02461433 Phase 4
5 The Use of Duloxetine for Cognition Improvement in Individuals With Mild Cognitive Impairment Active, not recruiting NCT02590874 Phase 4
6 A Trial of Oseltamivir in High-Risk Patients Presenting to the Emergency Department With Influenza Not yet recruiting NCT02561169 Phase 4
7 Trial of SAVVY and HIV in Ghana Unknown status NCT00129532 Phase 3
8 Evaluation of the Active Living Every Day Exercise Program for People With Arthritis Completed NCT00146367 Phase 2, Phase 3
9 Evaluation of Walk With Ease in Arthritis Completed NCT00526435 Phase 3
10 Health Benefits of an Exercise Program for Adults With Arthritis Completed NCT00146393 Phase 2, Phase 3
11 A Study to Assess the Efficacy and Safety of Enteric-Coated Acetylsalicylic Acid in Patients at Moderate Risk of Cardiovascular Disease Completed NCT00501059 Phase 3
12 A Comparison of Ropinirole Immediate Release With Ropinirole Prolonged Release in Patients With Advanced Parkinson's Completed NCT00331149 Phase 3
13 Determine Long-Term Safety and Tolerability of Pregabalin in Patients With Anxiety Disorders. Completed NCT00150449 Phase 3
14 A Study to Evaluate the Safety and Immunogenicity of 4 Doses of MenACWY Conjugate Vaccine, Administered Concomitantly With Routine Vaccines, Among Infants Aged 2 Months Completed NCT01000311 Phase 3
15 Does Tension-Free Herniorrhaphy or Laparoscopic Herniorrhaphy Achieve Equal or Better Recurrence Rates and Lower Costs While Achieving Equivalent Outcomes for Hernia Patients? Completed NCT00032448 Phase 3
16 Esomeprazole for Prevention of Upper Gastrointestinal Symptoms Associated With Continuous Use of NSAIDs Completed NCT00241553 Phase 3
17 Esomeprazole for Relief of Upper Gastrointestinal Symptoms Associated With Continuous Use of NSAIDs Completed NCT00241527 Phase 3
18 RECORD: Rosiglitazone Evaluated for Cardiac Outcomes and Regulation of Glycaemia in Diabetes Completed NCT00379769 Phase 3
19 Open Label Study Assessing Effectiveness Of Amlodipine/Atorvastatin In Subjects With Hypertension and Dyslipidaemia Completed NCT00330785 Phase 3
20 National Multiple Sclerosis Society (NMSS) Pilot Study of Transcranial Direct Current Stimulation (tDCS) Recruiting NCT02746705 Phase 3
21 Comparison of Axillary Lymph Node Dissection With Axillary Radiation for Patients With Node-Positive Breast Cancer Treated With Chemotherapy Recruiting NCT01901094 Phase 3
22 Twelve Month Safety and Efficacy Study of CVT-301 In Parkinson's Disease Patients With OFF Episodes Recruiting NCT02242487 Phase 3
23 Study of the Steroid Sparing Effect of Xolair (Omalizumab) in Patients With Persistent Eosinophilic Bronchitis Recruiting NCT02049294 Phase 2, Phase 3
24 Efficacy, Safety and Tolerability Study of APL-130277 for the Acute Treatment of OFF Episodes in Patients With Parkinson's Disease Recruiting NCT02469090 Phase 3
25 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3
26 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3
27 MRI and Mammography Before Surgery in Patients With Stage I-II Breast Cancer Recruiting NCT01805076 Phase 3
28 A Tolerability Study of ALKS 8700 in Subjects With Relapsing Remitting Multiple Sclerosis (RRMS) EVOLVE-MS-2 Recruiting NCT03093324 Phase 3
29 A Study of ALKS 8700 in Adults With Relapsing Remitting Multiple Sclerosis (MS) EVOLVE-MS-1 Recruiting NCT02634307 Phase 3
30 PROSPECT: Chemotherapy Alone or Chemotherapy Plus Radiation Therapy in Treating Patients With Locally Advanced Rectal Cancer Undergoing Surgery Recruiting NCT01515787 Phase 2, Phase 3
31 Clinical Study to Evaluate the Effectiveness, Safety, and Tolerability of Oxymorphone Immediate Release (IR) Oral Liquid in Post Surgical Pediatric Subjects Recruiting NCT02687451 Phase 3
32 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3
33 Clinical Evaluation of the Lenstec SBL-3 Multifocal Intraocular Lens Recruiting NCT02487160 Phase 2, Phase 3
34 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3
35 VentFirst: A Multicenter RCT of Assisted Ventilation During Delayed Cord Clamping for Extremely Preterm Infants Recruiting NCT02742454 Phase 3
36 A Study of PF-06438179 (Infliximab-Pfizer) and Infliximab in Combination With Methotrexate in Subjects With Active Rheumatoid Arthritis (REFLECTIONS B537-02) Active, not recruiting NCT02222493 Phase 3
37 Prevention of Cardiovascular Complications in Diabetic Patients With Vitamin E Treatment Terminated NCT00220831 Phase 2, Phase 3
38 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
39 Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome Completed NCT01721733 Phase 2
40 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
41 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2
42 Atomoxetine and Huntington's Disease Completed NCT00368849 Phase 2
43 A Study to Evaluate ALKS 5461 in Subjects With Major Depressive Disorder (MDD) Completed NCT01500200 Phase 2
44 ALK33BUP-201: Safety and Tolerability Study of ALKS 33-BUP (ALKS 5461) Administration in Subjects With MDD Completed NCT01381107 Phase 1, Phase 2
45 Citalopram to Enhance Cognition in HD Completed NCT00271596 Phase 2
46 A Study To Investigate The Safety And Possible Clinical Benefit Of Multistem(r) In Patients With Moderate To Severe Ulcerative Colitis Completed NCT01240915 Phase 2
47 A Phase II Multi-centre, Extension Study to Investigate the Long Term Safety of ONO-2506PO in Patients Diagnosed With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00694941 Phase 2
48 Study of Tenofovir Disoproxil Fumarate (TDF) for Prevention of HIV Completed NCT00122486 Phase 2
49 Efficacy of TPI ASM8 During a 14-Day Allergen Challenge Completed NCT01158898 Phase 2
50 Phase 2b Study of GAM501 in the Treatment of Diabetic Ulcers of the Lower Extremities Completed NCT00493051 Phase 2

Search NIH Clinical Center for Leigh Syndrome

Cochrane evidence based reviews: leigh disease

Genetic Tests for Leigh Syndrome

Genetic tests related to Leigh Syndrome:

id Genetic test Affiliating Genes
1 Leigh Syndrome (nuclear Dna Mutation) 29 24 BCS1L COX10 DLD MTFMT NDUFA1 NDUFA10 NDUFAF2 NDUFAF6 NDUFS1 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SCO1 SCO2 SDHA SURF1 FOXRED1
2 Leigh Syndrome 29
3 Leigh Syndrome Due to Mitochondrial Complex I Deficiency 29 24 NDUFA2 NDUFA12 NDUFA9
4 Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency 29
5 Leigh Syndrome (mtdna Mutation) 29 24
6 Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 29
7 Leigh Syndrome (mtdna Deletion) 24

Anatomical Context for Leigh Syndrome

MalaCards organs/tissues related to Leigh Syndrome:

39
Kidney, Spinal Cord, Cerebellum, Thalamus, Eye, Heart, Brain

Publications for Leigh Syndrome

Articles related to Leigh Syndrome:

(show top 50) (show all 197)
id Title Authors Year
1
Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome? ( 27826676 )
2017
2
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. ( 28429146 )
2017
3
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report. ( 28286850 )
2017
4
Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. ( 27761019 )
2017
5
NDUFS4-related Leigh syndrome in Hutterites. ( 28371352 )
2017
6
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites. ( 28371264 )
2017
7
Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome. ( 28483998 )
2017
8
Schizophrenia-like symptoms in a patient with Leigh syndrome. ( 28262162 )
2017
9
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. ( 28247337 )
2017
10
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
11
Premature Ovarian Failure in French Canadian Leigh Syndrome. ( 28284481 )
2017
12
Ophthalmologic involvement in Leigh syndrome. ( 27226419 )
2016
13
Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation. ( 27000225 )
2016
14
FDG-PET study of patients with Leigh syndrome. ( 26944169 )
2016
15
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. ( 28139822 )
2016
16
Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome. ( 27570408 )
2016
17
Leigh syndrome associated with a novel mutation in the COX15 gene. ( 26959537 )
2016
18
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. ( 27390132 )
2016
19
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. ( 27574709 )
2016
20
Ophthalmologic involvement in Leigh syndrome. ( 27234010 )
2016
21
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. ( 27301544 )
2016
22
Spasticity secondary to Leigh syndrome managed with selective dorsal rhizotomy: a case report. ( 27041374 )
2016
23
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. ( 27756633 )
2016
24
Generation of a human iPSC line from a patient with Leigh syndrome. ( 27345786 )
2016
25
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. ( 27080638 )
2016
26
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. ( 27986404 )
2016
27
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. ( 26657515 )
2016
28
Affection of the frontal lobe in Leigh syndrome due to the m.8993T>G mutation. ( 27209570 )
2016
29
Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up. ( 26893257 )
2016
30
The neuroimaging of Leigh syndrome: case series and review of the literature. ( 26739140 )
2016
31
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. ( 27344648 )
2016
32
Significance of rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation. ( 27206685 )
2016
33
Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome. ( 27074294 )
2016
34
Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy? ( 27547733 )
2016
35
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. ( 27408822 )
2016
36
Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene. ( 27346203 )
2016
37
Respiratory chain inhibition: one more feature to propose MPTP intoxication as a Leigh syndrome model. ( 27787743 )
2016
38
Ndufs4 related Leigh syndrome: A case report and review of the literature. ( 27079373 )
2016
39
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options. ( 26725255 )
2016
40
Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients. ( 25835550 )
2015
41
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. ( 25214534 )
2015
42
Leigh Syndrome: One disorder, more than 75 monogenic causes. ( 26506407 )
2015
43
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia. ( 25681084 )
2015
44
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. ( 25995486 )
2015
45
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. ( 26016410 )
2015
46
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. ( 26565911 )
2015
47
Ophthalmological manifestations in patients with Leigh syndrome. ( 25351680 )
2015
48
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. ( 25591832 )
2015
49
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. ( 27858754 )
2015
50
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. ( 26008862 )
2015

Variations for Leigh Syndrome

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

66 (show all 32)
id Symbol AA change Variation ID SNP ID
1 COX15 p.Arg217Trp VAR_019596 rs28939711
2 COX15 p.Ser344Pro VAR_033117 rs397514662
3 MT-ATP6 p.Leu156Arg VAR_000793 rs199476133
4 MT-ATP6 p.Leu156Pro VAR_000794 rs199476133
5 MT-ATP6 p.Leu217Pro VAR_000797 rs199476135
6 MT-ATP6 p.Leu220Pro VAR_073700 rs199476138
7 MT-ND3 p.Ala47Thr VAR_035092 rs267606891
8 MT-ND5 p.Phe124Leu VAR_035424 rs267606893
9 MT-ND5 p.Ser250Cys VAR_035429 rs267606896
10 NARS2 p.Asn381Ser VAR_073724
11 NDUFAF5 p.Leu159Phe VAR_067956 rs267606689
12 NDUFAF5 p.Gly250Val VAR_076864 rs757043077
13 NDUFS8 p.Pro79Leu VAR_019538 rs28939679
14 NDUFS8 p.Arg102His VAR_019539 rs121912638
15 NDUFV1 p.Thr423Met VAR_008847 rs121913659
16 POLG p.Gly848Ser VAR_023675 rs113994098
17 POLG p.Arg232His VAR_058871 rs113994093
18 SCO2 p.Gly193Ser VAR_076281 rs759452074
19 SCO2 p.Met258Thr VAR_076282
20 SDHA p.Arg554Trp VAR_002449 rs9809219
21 SDHA p.Ala524Val VAR_016878 rs137852767
22 SDHA p.Cys189Gly VAR_074022
23 SURF1 p.Gly124Glu VAR_007450 rs28933402
24 SURF1 p.Ile246Thr VAR_007452
25 SURF1 p.Gly124Arg VAR_015258 rs782033035
26 SURF1 p.Tyr274Asp VAR_015259 rs121918658
27 SURF1 p.Leu90Pro VAR_068649 rs782024654
28 SURF1 p.Val177Gly VAR_068650
29 SURF1 p.Gly205Glu VAR_068651
30 SURF1 p.Met235Thr VAR_068652
31 SURF1 p.Ala248Asp VAR_068653
32 SURF1 p.Gly257Arg VAR_068654

ClinVar genetic disease variations for Leigh Syndrome:

6 (show top 50) (show all 73)
id Gene Variation Type Significance SNP ID Assembly Location
1 NDUFAF6 NM_152416.3(NDUFAF6): c.296A> G (p.Gln99Arg) single nucleotide variant Pathogenic rs137853184 GRCh37 Chromosome 8, 96044321: 96044321
2 NDUFAF2 NDUFAF2, 1-BP DEL, 103A deletion Pathogenic
3 NDUFS3 NM_004551.2(NDUFS3): c.434C> T (p.Thr145Ile) single nucleotide variant Pathogenic rs28939714 GRCh37 Chromosome 11, 47603692: 47603692
4 NDUFS3 NM_004551.2(NDUFS3): c.595C> T (p.Arg199Trp) single nucleotide variant Pathogenic rs104894270 GRCh37 Chromosome 11, 47603988: 47603988
5 BCS1L NM_004328.4(BCS1L): c.296C> T (p.Pro99Leu) single nucleotide variant Pathogenic rs121908572 GRCh37 Chromosome 2, 219526006: 219526006
6 NDUFS4 NM_002495.3(NDUFS4): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs104893898 GRCh37 Chromosome 5, 52942201: 52942201
7 NDUFS4 NDUFS4, IVS1AS, G-A, -1 single nucleotide variant Pathogenic
8 NDUFA2 NDUFA2, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
9 NDUFS7 NM_024407.4(NDUFS7): c.364G> A (p.Val122Met) single nucleotide variant Pathogenic rs104894705 GRCh37 Chromosome 19, 1391005: 1391005
10 NDUFS7 NM_024407.4(NDUFS7): c.434G> A (p.Arg145His) single nucleotide variant Pathogenic rs121434479 GRCh37 Chromosome 19, 1391143: 1391143
11 NDUFS7 NDUFS7, IVS1AS, C-G, -1167 single nucleotide variant Pathogenic
12 MT-TV m.1624C> T single nucleotide variant Pathogenic rs199476144 GRCh37 Chromosome MT, 1624: 1624
13 MT-TW m.5537_5538insT insertion Pathogenic rs199474672 GRCh37 Chromosome MT, 5537: 5538
14 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh37 Chromosome MT, 8363: 8363
15 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
16 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
17 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
18 MT-ATP6 m.9176T> C single nucleotide variant Pathogenic rs199476135 GRCh37 Chromosome MT, 9176: 9176
19 MT-ATP6 m.8851T> C single nucleotide variant Pathogenic rs199476136 GRCh37 Chromosome MT, 8851: 8851
20 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
21 MT-ATP6 m.9176T> G single nucleotide variant Pathogenic rs199476135 GRCh37 Chromosome MT, 9176: 9176
22 MT-CO3 m.9537dupC duplication Pathogenic rs267606614 GRCh37 Chromosome MT, 9537: 9537
23 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic/Likely pathogenic rs199476104 GRCh37 Chromosome MT, 14484: 14484
24 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
25 MT-ND6 m.14487T> C single nucleotide variant Pathogenic rs199476109 GRCh37 Chromosome MT, 14487: 14487
26 MT-ND5 m.12706T> C single nucleotide variant Pathogenic rs267606893 GRCh37 Chromosome MT, 12706: 12706
27 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
28 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 GRCh37 Chromosome MT, 13084: 13084
29 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
30 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
31 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 GRCh37 Chromosome MT, 11777: 11777
32 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 GRCh37 Chromosome MT, 10191: 10191
33 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 GRCh37 Chromosome MT, 10158: 10158
34 MT-ND3 m.10197G> A single nucleotide variant Pathogenic rs267606891 GRCh37 Chromosome MT, 10197: 10197
35 MT-ND2 m.4681T> C single nucleotide variant Pathogenic rs267606889 GRCh37 Chromosome MT, 4681: 4681
36 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 GRCh37 Chromosome MT, 3460: 3460
37 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh37 Chromosome 9, 136218825: 136218826
38 NDUFA9 NM_005002.4(NDUFA9): c.962G> C (p.Arg321Pro) single nucleotide variant Pathogenic rs199592341 GRCh37 Chromosome 12, 4794490: 4794490
39 NDUFA10 NM_004544.3(NDUFA10): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387906872 GRCh37 Chromosome 2, 240964718: 240964718
40 NDUFA10 NM_004544.3(NDUFA10): c.425A> G (p.Gln142Arg) single nucleotide variant Pathogenic rs387906873 GRCh37 Chromosome 2, 240960649: 240960649
41 NDUFA12 NM_018838.4(NDUFA12): c.178C> T (p.Arg60Ter) single nucleotide variant Pathogenic rs387907139 GRCh37 Chromosome 12, 95388025: 95388025
42 MTFMT NM_139242.3(MTFMT): c.626C> T (p.Ser209Leu) single nucleotide variant Pathogenic rs201431517 GRCh37 Chromosome 15, 65313871: 65313871
43 MTFMT NM_139242.3(MTFMT): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs200286768 GRCh37 Chromosome 15, 65295576: 65295576
44 MT-ATP6 m.9191T> C single nucleotide variant Pathogenic rs386829069 GRCh37 Chromosome MT, 9191: 9191
45 NDUFS4 NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs) deletion Pathogenic rs587776949 GRCh38 Chromosome 5, 53683155: 53683155
46 MT-ND1 NC_012920.1: m.3481G> A single nucleotide variant Pathogenic rs587776433 GRCh37 Chromosome MT, 3481: 3481
47 MT-ND1 NC_012920.1: m.3890G> A single nucleotide variant Pathogenic rs587776434 GRCh37 Chromosome MT, 3890: 3890
48 MT-TW NC_012920.1: m.5523T> G single nucleotide variant Pathogenic rs587776435 GRCh37 Chromosome MT, 5523: 5523
49 MT-TW NC_012920.1: m.5559A> G single nucleotide variant Pathogenic rs370471013 GRCh37 Chromosome MT, 5559: 5559
50 MT-CO3 NC_012920.1: m.9478T> C single nucleotide variant Pathogenic rs587776437 GRCh37 Chromosome MT, 9478: 9478

Expression for Leigh Syndrome

Search GEO for disease gene expression data for Leigh Syndrome.

Pathways for Leigh Syndrome

GO Terms for Leigh Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.8 COX15 MT-ND1 MT-ND3 MT-ND4 MT-ND6 NDUFS3
2 respiratory chain GO:0070469 9.73 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial matrix GO:0005759 9.71 NDUFA10 NDUFS3 NDUFS7 NDUFS8
4 myelin sheath GO:0043209 9.61 NDUFA10 NDUFS3 SDHA
5 mitochondrial respiratory chain GO:0005746 9.37 COX15 SURF1
6 mitochondrial respiratory chain complex I GO:0005747 9.36 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 NDUFA10
7 mitochondrion GO:0005739 10.07 COX15 MT-ND1 MT-ND3 MT-ND4 MT-ND5 NDUFA10
8 mitochondrial inner membrane GO:0005743 10.03 COX15 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.73 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 response to oxidative stress GO:0006979 9.63 MT-ND3 NDUFA12 NDUFS8
3 cellular respiration GO:0045333 9.56 COX15 MT-ND1 NDUFS3 NDUFS4
4 reactive oxygen species metabolic process GO:0072593 9.5 MT-ND2 NDUFS3 NDUFS4
5 ATP biosynthetic process GO:0006754 9.48 MT-ATP6 SURF1
6 respiratory chain complex IV assembly GO:0008535 9.43 COX15 SURF1
7 electron transport chain GO:0022900 9.4 NDUFS4 SDHA
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
9 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND4 MT-ND5
10 oxidation-reduction process GO:0055114 10.03 COX15 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 electron carrier activity GO:0009055 9.5 NDUFA12 NDUFS3 SDHA
3 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.43 NDUFS3 NDUFS4 NDUFS8
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 COX15 SDHA
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.4 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
6 cytochrome-c oxidase activity GO:0004129 9.37 COX15 SURF1
7 NADH dehydrogenase activity GO:0003954 9.33 NDUFS3 NDUFS7 NDUFS8

Sources for Leigh Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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