LS
MCID: LGH007
MIFTS: 70

Leigh Syndrome (LS)

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

Aliases & Classifications for Leigh Syndrome

MalaCards integrated aliases for Leigh Syndrome:

Name: Leigh Syndrome 56 12 52 25 58 73 36 29 29 29 54 6
Leigh Disease 12 74 52 25 58 73 43 15 71
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 73 29 6
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency 73 6 17
Leigh Syndrome Due to Mitochondrial Complex I Deficiency 73 29 6
Infantile Subacute Necrotizing Encephalopathy 52 25 58
Leigh's Disease 52 25 53
Sne 56 52 73
Ls 56 52 73
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 56 71
Necrotizing Encephalopathy Infantile Subacute of Leigh 52 73
Leigh Syndrome Due to Cytochrome C Oxidase Deficiency 56 13
Subacute Necrotizing Encephalomyelopathy 12 25
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 58
Necrotizing Encephalopathy, Infantile Subacute, of Leigh; Sne 56
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency 73
Leigh Syndrome Due to Mitochondrial Complex V Deficiency 73
Leigh Syndrome Due to Mitochondrial Cox4 Deficiency 56
Juvenile Subacute Necrotizing Encephalomyelopathy 12
Encephalopathy, Subacute Necrotizing, Infantile 71
Encephalopathy, Subacute Necrotizing, Juvenile 71
Juvenile Subacute Necrotizing Encephalopathy 25
Mitochondrial Dna-Associated Leigh Syndrome 58
Infantile Necrotizing Encephalomyelopathy 12
Leigh Syndrome, Due to Cox Iv Deficiency 56
Leigh Syndrome Due to Cox Iv Deficiency 6
Subacute Necrotizing Encephalopathy 52
Maternally Inherited Leigh Syndrome 71
Leigh's Necrotizing Encephalopathy 52
Maternally-Inherited Leigh Disease 58
Mtdna-Associated Leigh Syndrome 58
Syndrome, Leigh 39
Mils 58

Characteristics:

Orphanet epidemiological data:

58
leigh syndrome
Inheritance: Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;
mitochondrial dna-associated leigh syndrome
Inheritance: Mitochondrial inheritance; Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive
mitochondrial

Miscellaneous:
clinical heterogeneity
onset usually in infancy or early childhood
genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
progressive disorder, usually with rapid, relentless course
subset of patients have cytochrome c oxidase deficiency (see )
see also x-linked leigh syndrome
see also french-canadian type of leigh syndrome


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Leigh Syndrome

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. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult. Several other features may occur in people with Leigh syndrome. Many individuals with this condition develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, urine, or the fluid that surrounds and protects the brain and spinal cord (cerebrospinal fluid) of people with Leigh syndrome. The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A medical procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain. These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord and controls functions such as swallowing and breathing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information from the rest of the body back to the brain.

MalaCards based summary : Leigh Syndrome, also known as leigh disease, is related to mitochondrial dna-associated leigh syndrome and mitochondrial dna-associated leigh syndrome and narp, and has symptoms including seizures, ataxia and ophthalmoplegia. An important gene associated with Leigh Syndrome is SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor), and among its related pathways/superpathways are Oxidative phosphorylation and Metabolism. The drugs Lenalidomide and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are muscular hypotonia and cognitive impairment

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.

NIH Rare Diseases : 52 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.

OMIM : 56 Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. It most commonly presents as a progressive and severe neurodegenerative disorder with onset within the first months or years of life, and may result in early death. Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as nystagmus or optic atrophy. The neurologic features are associated with the classic findings of T2-weighted hyperintensities in the basal ganglia and/or brainstem on brain imaging. Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation. Thus, Leigh syndrome may be a clinical feature of a primary deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (see 252010), complex II deficiency (see 252011), complex III deficiency (see 124000), complex IV deficiency (cytochrome c oxidase; see 220110), or complex V deficiency (see 604273) (summary by Lake et al., 2015). (256000)

NINDS : 53 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.   In Leigh’s disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions. There is also a form of Leigh’s disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.

KEGG : 36 Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial.

UniProtKB/Swiss-Prot : 73 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 : 74 Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited... more...

Related Diseases for Leigh Syndrome

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

(show top 50) (show all 449)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna-associated leigh syndrome 35.5 SURF1 SDHA MT-ATP6 COX15 COX10 BCS1L
2 mitochondrial dna-associated leigh syndrome and narp 35.2 SURF1 SDHA MT-ATP6 COX15 COX10 BCS1L
3 nuclear gene-encoded leigh syndrome 35.2 COX15 COX10 BCS1L
4 leigh syndrome with leukodystrophy 35.0 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 COX15
5 mitochondrial complex i deficiency, nuclear type 1 34.5 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-ND6
6 mitochondrial complex iv deficiency 34.2 SURF1 MT-TL1 MT-CO3 COX15 COX10
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 34.0 SURF1 NDUFAF2 MT-TW MT-TV MT-TL1 MT-TK
8 mitochondrial metabolism disease 32.8 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-TL1
9 lactic acidosis 32.6 SURF1 NDUFS4 MT-TW MT-TV MT-TL1 MT-TK
10 mitochondrial disorders 32.6 NDUFV1 NDUFS4 NDUFAF2 MT-TL1 MT-TK MT-ND6
11 mitochondrial encephalomyopathy 32.3 SURF1 NDUFV1 NDUFS4 NDUFAF2 MT-TW MT-TL1
12 myopathy 32.3 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-TW MT-TV
13 kearns-sayre syndrome 32.2 SURF1 SDHA MT-TL1 MT-TK MT-ND6 MT-ND5
14 neuropathy 32.2 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3
15 dystonia 32.2 SDHA MT-ND6 MT-ND4 MT-ND3 MT-ND1 MT-CO3
16 3-methylglutaconic aciduria, type iii 32.0 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
17 leber optic atrophy 32.0 SURF1 NDUFV1 NDUFS4 NDUFAF2 MT-TL1 MT-TK
18 optic nerve disease 32.0 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
19 neuropathy, ataxia, and retinitis pigmentosa 32.0 SURF1 MT-TK MT-ND6 MT-ND4 MT-ATP6 COX15
20 mitochondrial myopathy 31.9 SURF1 NDUFV1 MT-TW MT-TL1 MT-TK MT-ND6
21 hereditary optic neuropathy 31.9 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CO3
22 peripheral nervous system disease 31.9 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
23 hypertrophic cardiomyopathy 31.8 MT-TL1 MT-ND1 MT-CO3 MT-ATP6 COX15 COX10
24 leukodystrophy 31.8 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-ND3
25 myoclonic epilepsy associated with ragged-red fibers 31.7 SURF1 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
26 early myoclonic encephalopathy 31.7 NDUFS4 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
27 cortical blindness 31.5 MT-ND6 MT-ND5 MT-ND4 MT-ND1
28 mitochondrial dna deletion syndromes 31.4 SURF1 SDHA COX15 COX10 BCS1L
29 wolff-parkinson-white syndrome 31.2 MT-TK MT-ND5 MT-ND4
30 dysphagia 31.2 COX15 COX10
31 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 31.1 SURF1 MT-TK MT-ATP6 COX15 COX10
32 chronic progressive external ophthalmoplegia 31.1 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
33 cardiomyopathy, infantile hypertrophic 31.1 SURF1 MT-ATP6 COX15 COX10
34 leber optic atrophy and dystonia 31.1 MT-ND6 MT-ND4 MT-ND3 MT-ND1
35 sensorineural hearing loss 30.8 MT-TL1 MT-ND6 MT-ATP6 BCS1L
36 leber plus disease 30.8 MT-ND6 MT-ND4 MT-ND3 MT-ND1
37 scotoma 30.5 MT-ND6 MT-ND4
38 leigh syndrome, french canadian type 12.8
39 leigh syndrome with nephrotic syndrome 12.3
40 leigh syndrome with cardiomyopathy 12.2
41 lichen sclerosus et atrophicus 11.7
42 mitochondrial complex ii deficiency 11.5
43 pyruvate carboxylase deficiency 11.5
44 necrotizing encephalomyelopathy, subacute, of leigh, adult 11.5
45 legius syndrome 11.4
46 myxoid liposarcoma 11.4
47 balanitis xerotica obliterans 11.4
48 mitochondrial complex iii deficiency, nuclear type 1 11.4
49 striatonigral degeneration, infantile, mitochondrial 11.4
50 mitochondrial complex i deficiency, nuclear type 2 11.4

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



Diseases related to Leigh Syndrome

Symptoms & Phenotypes for Leigh Syndrome

Human phenotypes related to Leigh Syndrome:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001251
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000639
5 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
6 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
7 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
8 decreased activity of mitochondrial respiratory chain 58 31 hallmark (90%) Very frequent (99-80%) HP:0008972
9 optic atrophy 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000648
10 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
11 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
12 progressive ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007650
13 seizure 31 frequent (33%) HP:0001250
14 sensorineural hearing impairment 58 31 Occasional (29-5%) HP:0000407
15 failure to thrive 58 31 Frequent (79-30%) HP:0001508
16 spasticity 58 31 Frequent (79-30%) HP:0001257
17 hyperreflexia 58 31 Occasional (29-5%) HP:0001347
18 increased serum lactate 58 31 Frequent (79-30%) HP:0002151
19 dystonia 58 31 Frequent (79-30%) HP:0001332
20 increased csf lactate 58 31 Very frequent (99-80%) HP:0002490
21 pigmentary retinopathy 58 31 Frequent (79-30%) HP:0000580
22 intellectual disability 31 HP:0001249
23 global developmental delay 31 HP:0001263
24 hepatomegaly 58 Occasional (29-5%)
25 seizures 58 Frequent (79-30%),Frequent (79-30%)
26 dyskinesia 58 Frequent (79-30%)
27 developmental regression 58 Occasional (29-5%)
28 hypertonia 58 Frequent (79-30%)
29 muscle weakness 58 Frequent (79-30%)
30 fever 58 Occasional (29-5%)
31 hypertrophic cardiomyopathy 58 Occasional (29-5%)
32 dysphagia 58 Occasional (29-5%)
33 dyspnea 58 Occasional (29-5%)
34 generalized myoclonic seizures 58 Frequent (79-30%)
35 abnormal pattern of respiration 31 HP:0002793
36 ptosis 31 HP:0000508
37 dilated cardiomyopathy 58 Occasional (29-5%)
38 ragged-red muscle fibers 58 Very rare (<4-1%)
39 ophthalmoplegia 31 HP:0000602
40 bulbar signs 58 Occasional (29-5%)
41 abnormality of the renal tubule 58 Occasional (29-5%)
42 dysarthria 31 HP:0001260
43 apnea 58 Occasional (29-5%)
44 chorea 58 Frequent (79-30%)
45 hepatic failure 58 Occasional (29-5%)
46 hyporeflexia 58 Occasional (29-5%)
47 severe global developmental delay 58 Frequent (79-30%)
48 ophthalmoparesis 58 Frequent (79-30%)
49 infantile spasms 58 Occasional (29-5%)
50 rod-cone dystrophy 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
hyperreflexia
dysarthria
more
Growth Other:
failure to thrive

Respiratory:
respiratory failure
abnormal respiratory patterns

Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
optic atrophy
nystagmus
strabismus
ptosis
ophthalmoplegia
more
Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Metabolic Features:
lactic acidosis

Skin Nails Hair Hair:
hypertrichosis

Clinical features from OMIM:

256000

UMLS symptoms related to Leigh Syndrome:


seizures, ataxia, ophthalmoplegia, muscle spasticity

Drugs & Therapeutics for Leigh Syndrome

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
3
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
4
Hydroxocobalamin Approved Phase 2 13422-51-0 15589840 11953898
5
nivolumab Approved Phase 2 946414-94-4
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Melphalan Approved Phase 2 148-82-3 460612 4053
8
Lenograstim Approved, Investigational Phase 2 135968-09-1
9
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
10
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
11
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
12
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
13
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
14
Cobalamin Experimental Phase 2 13408-78-1 6857388
15 Molgramostim Investigational Phase 2 99283-10-0
16 Ubiquinone Phase 2
17 Trace Elements Phase 2
18 Nutrients Phase 2
19 Micronutrients Phase 2
20 Heptavalent Pneumococcal Conjugate Vaccine Phase 1, Phase 2
21 Vitamin B 12 Phase 2
22 Antioxidants Phase 2
23 Vitamin B12 Phase 2
24 Antineoplastic Agents, Immunological Phase 2
25 Pharmaceutical Solutions Phase 2
26 Immunologic Factors Phase 2
27 Alkylating Agents Phase 2
28 Vaccines Phase 2
29 Immunosuppressive Agents Phase 2
30 Antirheumatic Agents Phase 2
31
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
32 Liver Extracts

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome Completed NCT01721733 Phase 2 Placebo;EPI-743 15 mg/kg;EPI-743 5 mg/kg
2 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
3 Randomized Phase II Study of Autologous Stem Cell Transplantation With Tadalafil and Lenalidomide Maintenance With or Without Activated Marrow Infiltrating Lymphocytes (MILs) in High Risk Myeloma Completed NCT01858558 Phase 2 No aMIL
4 Empowering Daughters and Mother-in-laws to Mitigate Gender-based Violence and Promote Women's Health in India Completed NCT01337778 Phase 2
5 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
6 Adoptive Immunotherapy Utilizing Activated Marrow Infiltrating Lymphocytes in the Autologous Transplant Setting in Multiple Myeloma Completed NCT00566098 Phase 1, Phase 2 Melphalan
7 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
8 A Phase 2a, Open-Label, Multi-Center Study to Assess the Efficacy and Safety of Marrow Infiltrating Lymphocytes - Non-Small Cell Lung Cancer (MILs™ - NSCLC) Alone or in Combination With Nivolumab in Subjects With Locally Advanced and Unresectable or Metastatic NSCLC Previously Treated With Anti-PD-1 Recruiting NCT04069936 Phase 2
9 Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome Active, not recruiting NCT02352896 Phase 2 EPI-743
10 Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care Active, not recruiting NCT01370447 Phase 2 EPI-743
11 Randomized Trial of Activated Marrow Infiltrating Lymphocytes Alone or in Conjunction With an Allogeneic GM-CSF-based Myeloma Cellular Vaccine in the Autologous Transplant Setting in Multiple Myeloma Active, not recruiting NCT01045460 Phase 2 Cyclophosphamide;Melphalan
12 A Phase 2a, Open-label Study to Evaluate the Safety, Tolerability, and Clinical Activity of ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome Not yet recruiting NCT03747328 Phase 2 ABI-009
13 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
14 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
15 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
16 Adoptive Immunotherapy Utilizing Activated Marrow Infiltrating Lymphocytes Derived From Patients With Bone Marrow Relapse of Hematologic Malignancies After Allogeneic Hematopoietic Cell Transplantation Using Post-Transplantation Cyclophosphamide Graft-Versus-Host Disease Prophylaxis. Recruiting NCT02342613 Phase 1
17 Minimally Invasive Liver Surgery for Metastases From Colorectal Cancer: Oncologic Outcome and Prognostic Factors Completed NCT01356706
18 Comparison of the McGrath Videolaryngoscope and the Pentax-AWS With the Macintosh Laryngoscope for Nasotracheal Intubation in Patients With Manual In-line Stabilization Completed NCT02647606
19 The International Database for Leigh Syndrome Recruiting NCT03137355
20 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114
23 Tissue Study for Mitochondrial Disorders Suspended NCT01803906

Search NIH Clinical Center for Leigh Syndrome

Cochrane evidence based reviews: leigh disease

Genetic Tests for Leigh Syndrome

Genetic tests related to Leigh Syndrome:

# Genetic test Affiliating Genes
1 Leigh Syndrome (nuclear Dna Mutation) 29
2 Leigh Syndrome 29 BCS1L COX10 COX15 SDHA SURF1
3 Leigh Syndrome Due to Mitochondrial Complex I Deficiency 29
4 Leigh Syndrome (mtdna Mutation) 29
5 Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 29

Anatomical Context for Leigh Syndrome

MalaCards organs/tissues related to Leigh Syndrome:

40
Brain, Eye, Spinal Cord, Cerebellum, Kidney, Heart, Thalamus

Publications for Leigh Syndrome

Articles related to Leigh Syndrome:

(show top 50) (show all 1177)
# Title Authors PMID Year
1
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 61 54 6 56
15863660 2005
2
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. 56 54 6 61
15214016 2004
3
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 61 54 56 6
14595656 2003
4
Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 6 56 54 61
11938446 2002
5
A SURF1 gene mutation presenting as isolated leukodystrophy. 54 61 6 56
11409433 2001
6
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 6 56 54 61
9837813 1998
7
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 61 54 56 6
9843204 1998
8
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 6 56 61
15235026 2004
9
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. 56 61 6
14730434 2004
10
Leigh syndrome transmitted by uniparental disomy of chromosome 9. 56 6 61
10636738 1999
11
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 61 6 56
8602753 1996
12
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
13
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. 6 56
16738010 2006
14
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 6 56
11528392 2001
15
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. 61 6 54
18332249 2008
16
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6 61 54
16326995 2006
17
Hypertrichosis in patients with SURF1 mutations. 54 61 56
16222681 2005
18
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 61 54 56
14729820 2004
19
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 61 54 6
12928484 2003
20
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. 61 56 54
14557577 2003
21
Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. 6 54 61
12776230 2003
22
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. 61 6 54
11317352 2001
23
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 54 6 61
10746561 2000
24
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 6 54 61
10647889 1999
25
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. 56 54 61
10443880 1999
26
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 56 54 61
7550341 1995
27
Leigh syndrome: One disorder, more than 75 monogenic causes. 56 61
26506407 2016
28
Nuclear Gene-Encoded Leigh Syndrome Overview 61 6
26425749 2015
29
Metabolic rescue in pluripotent cells from patients with mtDNA disease. 61 56
26176921 2015
30
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 56 61
22114105 2012
31
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 61 56
21617257 2011
32
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 56 61
19503089 2009
33
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 61 56
19107570 2008
34
NDUFA2 complex I mutation leads to Leigh disease. 56 61
18513682 2008
35
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 61 6
17400793 2007
36
Mitochondrial DNA Deletion Syndromes 61 6
20301382 2003
37
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. 61 56
12925875 2003
38
Mitochondrial DNA-Associated Leigh Syndrome and NARP 6 61
20301352 2003
39
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. 6 61
12624137 2003
40
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 56 61
12529507 2003
41
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. 61 6
12205655 2002
42
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. 61 6
11799391 2002
43
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. 61 6
10894222 2000
44
Mitochondrial Disorders Overview 6 61
20301403 2000
45
Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. 61 56
9837811 1998
46
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 56 61
9837812 1998
47
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. 6 61
9266739 1997
48
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. 56 54
9063742 1997
49
Deficiency of respiratory chain complex I is a common cause of Leigh disease. 56 61
8687187 1996
50
Genetic heterogeneity in Leigh syndrome. 61 56
8687192 1996

Variations for Leigh Syndrome

ClinVar genetic disease variations for Leigh Syndrome:

6 (show top 50) (show all 2769) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SURF1 NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)SNV Pathogenic 280010 rs782623477 9:136219364-136219364 9:133352509-133352509
2 MRPS34 NM_023936.1(MRPS34):c.321+1G>TSNV Pathogenic 430586 rs1161932777 16:1822799-1822799 16:1772798-1772798
3 SURF1 NM_003172.4(SURF1):c.32_38dup (p.Leu16fs)duplication Pathogenic 456665 rs1410388157 9:136223291-136223292 9:133356415-133356416
4 NDUFS4 NM_002495.4(NDUFS4):c.178-2A>GSNV Pathogenic 488559 rs1554059248 5:52942061-52942061 5:53646231-53646231
5 NDUFS4 NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer)deletion Pathogenic 488560 rs1554062427 5:52978993-52978994 5:53683163-53683164
6 SURF1 NM_003172.4(SURF1):c.752-1G>CSNV Pathogenic 488613 rs1391748504 9:136218998-136218998 9:133352143-133352143
7 NDUFS4 NM_002495.4(NDUFS4):c.99-1G>ASNV Pathogenic 496165 rs376281345 5:52899281-52899281 5:53603451-53603451
8 NDUFAF2 NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)SNV Pathogenic 496555 rs772294726 5:60394822-60394822 5:61098995-61098995
9 SURF1 NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)SNV Pathogenic 520388 rs1053850536 9:136218977-136218977 9:133352122-133352122
10 SURF1 NM_003172.4(SURF1):c.465_466del (p.Thr156fs)deletion Pathogenic 520391 rs1564349176 9:136220653-136220654 9:133353798-133353799
11 SURF1 NM_003172.4(SURF1):c.833+1G>ASNV Pathogenic 599351 rs782609482 9:136218915-136218915 9:133352060-133352060
12 SURF1 NM_003172.4(SURF1):c.281dup (p.Leu94fs)duplication Pathogenic 643552 9:136221555-136221556 9:133354700-133354701
13 MT-ATP6 NC_012920.1(MT-ATP6):m.9035T>CSNV Pathogenic 690280 MT:9035-9035 MT:9035-9035
14 MT-ND2 NC_012920.1:m.5001dupduplication Pathogenic 692533 MT:4997-4998 MT:4997-4998
15 MT-ATP6 NC_012920.1:m.9032T>CSNV Pathogenic 693061 MT:9032-9032 MT:9032-9032
16 FASTKD2 NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)duplication Pathogenic 800307 2:207634845-207634846 2:206770121-206770122
17 FASTKD2 NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)SNV Pathogenic 800308 2:207634905-207634905 2:206770181-206770181
18 FASTKD2 NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)deletion Pathogenic 800306 2:207653588-207653588 2:206788864-206788864
19 SURF1 NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)SNV Pathogenic 802529 9:136221683-136221683 9:133354828-133354828
20 SURF1 NM_003172.4(SURF1):c.11_27dup (p.Gly10fs)duplication Pathogenic 802530 9:136223302-136223303 9:133356426-133356427
21 NDUFV1 NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs)duplication Pathogenic 802694 11:67379629-67379630 11:67612158-67612159
22 SURF1 NM_003172.4(SURF1):c.555_556del (p.Lys186fs)deletion Pathogenic 847821 9:136219581-136219582 9:133352726-133352727
23 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)SNV Pathogenic 6167 rs28937590 2:219525942-219525942 2:218661219-218661219
24 BCS1L NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)SNV Pathogenic 6170 rs121908577 2:219526569-219526569 2:218661846-218661846
25 COX15 NM_078470.6(COX15):c.649C>T (p.Arg217Trp)SNV Pathogenic 6175 rs28939711 10:101483814-101483814 10:99724057-99724057
26 COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val)SNV Pathogenic 7525 rs104894557 17:14110205-14110205 17:14206888-14206888
27 COX10 NM_001303.4(COX10):c.1007A>G (p.Asp336Gly)SNV Pathogenic 7526 rs104894557 17:14110205-14110205 17:14206888-14206888
28 COX10 NM_001303.4(COX10):c.2T>C (p.Met1Thr)SNV Pathogenic 7527 rs387906383 17:13972924-13972924 17:14069607-14069607
29 MT-TW m.5537_5538insTinsertion Pathogenic 9555 rs199474672 MT:5537-5538 MT:5537-5538
30 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
31 MT-TK m.8363G>ASNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363
32 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
33 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
34 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993
35 MT-ATP6 NC_012920.1:m.9176T>CSNV Pathogenic 9644 rs199476135 MT:9176-9176 MT:9176-9176
36 MT-ATP6 NC_012920.1:m.9185T>CSNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185
37 MT-ATP6 NC_012920.1:m.9176T>GSNV Pathogenic 9650 rs199476135 MT:9176-9176 MT:9176-9176
38 MT-CO3 m.9537dupCduplication Pathogenic 9656 rs267606614 MT:9531-9532 MT:9531-9532
39 MT-CYB m.15242G>ASNV Pathogenic 9680 rs207459999 MT:15242-15242 MT:15242-15242
40 MT-ND6 NC_012920.1:m.14484T>CSNV Pathogenic 9688 rs199476104 MT:14484-14484 MT:14484-14484
41 MT-ND6 m.14459G>ASNV Pathogenic 9689 rs199476105 MT:14459-14459 MT:14459-14459
42 MT-ND6 m.14487T>CSNV Pathogenic 9694 rs199476109 MT:14487-14487 MT:14487-14487
43 MT-ND5 m.13045A>CSNV Pathogenic 9700 rs267606895 MT:13045-13045 MT:13045-13045
44 MT-ND5 m.13084A>TSNV Pathogenic 9701 rs267606896 MT:13084-13084 MT:13084-13084
45 MT-ND5 m.13513G>ASNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513
46 MT-ND5 m.13042G>ASNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042
47 MT-ND3 m.10158T>CSNV Pathogenic 9714 rs199476117 MT:10158-10158 MT:10158-10158
48 MT-ND3 m.10197G>ASNV Pathogenic 9715 rs267606891 MT:10197-10197 MT:10197-10197
49 MT-ND4 m.11777C>ASNV Pathogenic 9711 rs28384199 MT:11777-11777 MT:11777-11777
50 MT-ND3 m.10191T>CSNV Pathogenic 9712 rs267606890 MT:10191-10191 MT:10191-10191

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

73 (show all 28)
# 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 MT-ND6 p.Met63Val VAR_064568 rs199476109
11 POLG p.Gly848Ser VAR_023675 rs113994098
12 POLG p.Arg232His VAR_058871 rs113994093
13 SCO2 p.Gly193Ser VAR_076281 rs759452074
14 SCO2 p.Met258Thr VAR_076282 rs135287828
15 SDHA p.Arg554Trp VAR_002449 rs9809219
16 SDHA p.Ala524Val VAR_016878 rs137852767
17 SDHA p.Cys189Gly VAR_074022
18 SURF1 p.Gly124Glu VAR_007450 rs28933402
19 SURF1 p.Ile246Thr VAR_007452
20 SURF1 p.Gly124Arg VAR_015258 rs782033035
21 SURF1 p.Tyr274Asp VAR_015259 rs121918658
22 SURF1 p.Leu90Pro VAR_068649 rs782024654
23 SURF1 p.Val177Gly VAR_068650
24 SURF1 p.Gly205Glu VAR_068651
25 SURF1 p.Met235Thr VAR_068652 rs131981173
26 SURF1 p.Ala248Asp VAR_068653
27 SURF1 p.Gly257Arg VAR_068654
28 SURF1 p.Gly257Val VAR_083395 rs103033608

Expression for Leigh Syndrome

Search GEO for disease gene expression data for Leigh Syndrome.

Pathways for Leigh Syndrome

Pathways related to Leigh Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Leigh Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-ND6
2 integral component of membrane GO:0016021 10.23 SURF1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
3 mitochondrion GO:0005739 9.86 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-ND6
4 mitochondrial membrane GO:0031966 9.8 MT-ND6 MT-ND4 MT-ND3 MT-ND1 COX15 COX10
5 mitochondrial respiratory chain complex I GO:0005747 9.8 NDUFV1 NDUFS4 MT-ND5 MT-ND4 MT-ND3 MT-ND2
6 respiratory chain GO:0070469 9.76 NDUFV1 NDUFS4 MT-ND6 MT-ND5 MT-ND4 MT-ND3
7 mitochondrial inner membrane GO:0005743 9.53 SURF1 SDHA NDUFV1 NDUFS4 NDUFAF2 MT-ND6
8 mitochondrial respiratory chain GO:0005746 9.43 SURF1 COX15
9 cytochrome complex GO:0070069 9.37 COX15 COX10

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 SURF1 SDHA NDUFV1 NDUFS4 MT-ND6 MT-ND5
2 proton transmembrane transport GO:1902600 9.76 SURF1 MT-CO3 COX15 COX10
3 aerobic respiration GO:0009060 9.72 SURF1 MT-ND4 MT-ND1 MT-CO3 COX10
4 electron transport chain GO:0022900 9.71 SURF1 SDHA NDUFS4
5 reactive oxygen species metabolic process GO:0072593 9.67 NDUFS4 NDUFAF2 MT-ND2
6 cellular respiration GO:0045333 9.67 NDUFS4 NDUFAF2 COX15 COX10
7 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.61 MT-CO3 COX15 COX10
8 respiratory electron transport chain GO:0022904 9.58 SDHA NDUFAF2 MT-CO3
9 mitochondrial respiratory chain complex IV assembly GO:0033617 9.56 SURF1 BCS1L
10 respiratory chain complex IV assembly GO:0008535 9.56 SURF1 MT-CO3 COX15 COX10
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 NDUFV1 NDUFS4 MT-ND6 MT-ND5 MT-ND4 MT-ND3
12 heme biosynthetic process GO:0006783 9.55 COX15 COX10
13 ATP synthesis coupled electron transport GO:0042773 9.52 MT-ND5 MT-ND4
14 electron transport coupled proton transport GO:0015990 9.51 MT-ND5 MT-ND4
15 heme a biosynthetic process GO:0006784 9.48 COX15 COX10
16 mitochondrial respiratory chain complex I assembly GO:0032981 9.32 NDUFV1 NDUFS4 NDUFAF2 MT-ND6 MT-ND5 MT-ND4

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 9.46 SURF1 MT-CO3 COX15 COX10
2 electron transfer activity GO:0009055 9.43 SDHA NDUFAF2 MT-CO3
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 SDHA COX15
4 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.32 NDUFV1 NDUFS4
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.28 NDUFV1 NDUFS4 NDUFAF2 MT-ND6 MT-ND5 MT-ND4
6 NADH dehydrogenase activity GO:0003954 9.26 NDUFV1 MT-ND5 MT-ND4 MT-ND1

Sources for Leigh Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....