LS
MCID: LGH007
MIFTS: 69

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 57 12 53 25 59 74 37 29 29 29 55 6
Leigh Disease 12 75 53 25 59 74 44 15 72
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 74 29 6
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency 74 6 17
Leigh Syndrome Due to Mitochondrial Complex I Deficiency 74 29 6
Infantile Subacute Necrotizing Encephalopathy 53 25 59
Leigh's Disease 53 25 54
Sne 57 53 74
Ls 57 53 74
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 57 72
Necrotizing Encephalopathy Infantile Subacute of Leigh 53 74
Leigh Syndrome Due to Cytochrome C Oxidase Deficiency 57 13
Subacute Necrotizing Encephalomyelopathy 12 25
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 59
Necrotizing Encephalopathy, Infantile Subacute, of Leigh; Sne 57
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency 74
Leigh Syndrome Due to Mitochondrial Complex V Deficiency 74
Leigh Syndrome Due to Mitochondrial Cox4 Deficiency 57
Juvenile Subacute Necrotizing Encephalomyelopathy 12
Encephalopathy, Subacute Necrotizing, Infantile 72
Encephalopathy, Subacute Necrotizing, Juvenile 72
Juvenile Subacute Necrotizing Encephalopathy 25
Mitochondrial Dna-Associated Leigh Syndrome 59
Infantile Necrotizing Encephalomyelopathy 12
Leigh Syndrome, Due to Cox Iv Deficiency 57
Leigh Syndrome Due to Cox Iv Deficiency 6
Subacute Necrotizing Encephalopathy 53
Maternally Inherited Leigh Syndrome 72
Leigh's Necrotizing Encephalopathy 53
Maternally-Inherited Leigh Disease 59
Mtdna-Associated Leigh Syndrome 59
Syndrome, Leigh 40
Mils 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32

Classifications:



External Ids:

Disease Ontology 12 DOID:3652
OMIM 57 256000
KEGG 37 H01354
MeSH 44 D007888
NCIt 50 C84814
SNOMED-CT 68 29570005
ICD10 33 G31.82
MESH via Orphanet 45 D007888
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 73 C0023264 C0751267 C2931092
UMLS 72 C0023264 C0751267 C0751268 more

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 leigh syndrome with leukodystrophy and striatonigral degeneration, infantile, mitochondrial, 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 Sargramostim and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are nystagmus and ataxia

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 : 53 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 : 57 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 : 54 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 : 37
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 : 74 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 : 75 Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an... 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 423)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome with leukodystrophy 34.8 SURF1 SDHA NDUFS4 NDUFAF2 MTFMT COX15
2 striatonigral degeneration, infantile, mitochondrial 33.5 MT-ND4 MT-ND3 MT-CO3 MT-ATP6
3 mitochondrial complex iv deficiency 33.3 SURF1 MT-TL1 MT-ND4 MT-CO3 COX15 COX10
4 striatonigral degeneration, infantile 33.0 MT-ND4 MT-ND3 MT-CO3 MT-ATP6
5 ataxia and polyneuropathy, adult-onset 32.3 MT-ND4 MT-ND3 MT-CO3 MT-ATP6
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.2 NDUFAF2 MT-TW MT-TL1 MT-ND6 MT-ND5 MT-ND4
7 lactic acidosis 32.1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
8 dystonia 32.0 MT-ND6 MT-ND4 MT-ND3 MT-ND1
9 neuropathy 32.0 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
10 optic nerve disease 31.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
11 leber optic atrophy 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
12 aceruloplasminemia 31.2 SURF1 MT-ATP6 BCS1L
13 retinitis pigmentosa 31.1 MT-TW MT-ND5 MT-ND4 MT-ND3 MT-CO3 MT-ATP6
14 leber optic atrophy and dystonia 31.0 MT-ND6 MT-ND4 MT-ND3 MT-ND1
15 mitochondrial metabolism disease 30.9 SURF1 NDUFS4 NDUFAF2 MTFMT MT-TL1 MT-ND6
16 kearns-sayre syndrome 30.7 SDHA MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND2
17 mitochondrial myopathy 30.1 MT-TW MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND2
18 myoclonic epilepsy associated with ragged-red fibers 29.8 MT-TL1 MT-TK MT-ND5 MT-ND4
19 mitochondrial encephalomyopathy 29.6 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
20 leigh syndrome, french canadian type 12.8
21 mitochondrial dna-associated leigh syndrome 12.6
22 nuclear gene-encoded leigh syndrome 12.6
23 mitochondrial dna-associated leigh syndrome and narp 12.4
24 leigh syndrome with nephrotic syndrome 12.3
25 obsolete: sporadic leigh syndrome 12.2
26 leigh syndrome with cardiomyopathy 12.2
27 mitochondrial complex i deficiency, nuclear type 1 11.8
28 lichen sclerosus et atrophicus 11.7
29 lichen sclerosus 11.7
30 mitochondrial complex ii deficiency 11.5
31 pyruvate carboxylase deficiency 11.5
32 necrotizing encephalomyelopathy, subacute, of leigh, adult 11.5
33 mitochondrial complex iii deficiency, nuclear type 1 11.4
34 mitochondrial complex i deficiency, nuclear type 2 11.4
35 3-hydroxyisobutyryl-coa hydrolase deficiency 11.4
36 mitochondrial complex i deficiency, mitochondrial type 1 11.4
37 mitochondrial complex v deficiency, nuclear type 1 11.4
38 coenzyme q10 deficiency, primary, 3 11.4
39 mitochondrial complex iii deficiency, nuclear type 2 11.4
40 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.4
41 combined oxidative phosphorylation deficiency 24 11.4
42 combined oxidative phosphorylation deficiency 32 11.4
43 mitochondrial complex i deficiency, nuclear type 7 11.4
44 mitochondrial complex i deficiency, nuclear type 8 11.4
45 mitochondrial complex i deficiency, nuclear type 15 11.4
46 mitochondrial complex i deficiency, nuclear type 16 11.4
47 mitochondrial complex i deficiency, nuclear type 23 11.4
48 combined oxidative phosphorylation deficiency 39 11.4
49 legius syndrome 11.4
50 myxoid liposarcoma 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:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000639
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
5 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
7 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
8 decreased activity of mitochondrial respiratory chain 59 32 hallmark (90%) Very frequent (99-80%) HP:0008972
9 seizures 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001250
10 optic atrophy 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000648
11 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
12 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
13 progressive ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007650
14 spasticity 59 32 Frequent (79-30%) HP:0001257
15 hyperreflexia 59 32 Occasional (29-5%) HP:0001347
16 failure to thrive 59 32 Frequent (79-30%) HP:0001508
17 sensorineural hearing impairment 59 32 Occasional (29-5%) HP:0000407
18 dystonia 59 32 Frequent (79-30%) HP:0001332
19 increased serum lactate 59 32 Frequent (79-30%) HP:0002151
20 increased csf lactate 59 32 Very frequent (99-80%) HP:0002490
21 pigmentary retinopathy 59 32 Frequent (79-30%) HP:0000580
22 ptosis 32 HP:0000508
23 emotional lability 32 HP:0000712
24 intellectual disability 32 HP:0001249
25 dysarthria 32 HP:0001260
26 muscle weakness 59 Frequent (79-30%)
27 dysphagia 59 Occasional (29-5%)
28 hypothermia 59 Occasional (29-5%)
29 chorea 59 Frequent (79-30%)
30 developmental regression 59 Occasional (29-5%)
31 global developmental delay 32 HP:0001263
32 hepatomegaly 59 Occasional (29-5%)
33 dyskinesia 59 Frequent (79-30%)
34 hypertonia 59 Frequent (79-30%)
35 fever 59 Occasional (29-5%)
36 hypertrophic cardiomyopathy 59 Occasional (29-5%)
37 dyspnea 59 Occasional (29-5%)
38 generalized hypotonia 32 HP:0001290
39 generalized myoclonic seizures 59 Frequent (79-30%)
40 severe global developmental delay 59 Frequent (79-30%)
41 abnormal pattern of respiration 32 HP:0002793
42 gait ataxia 59 Frequent (79-30%)
43 dilated cardiomyopathy 59 Occasional (29-5%)
44 abnormality of the renal tubule 59 Occasional (29-5%)
45 ophthalmoparesis 59 Frequent (79-30%)
46 generalized tonic-clonic seizures 59 Frequent (79-30%)
47 apnea 59 Occasional (29-5%)
48 lactic acidosis 32 HP:0003128
49 ragged-red muscle fibers 59 Very rare (<4-1%)
50 mitochondrial myopathy 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
strabismus
ophthalmoplegia
more
Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
hyperreflexia
more
Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Respiratory:
respiratory failure
abnormal respiratory patterns

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Growth Other:
failure to thrive

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 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
2
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
3
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
4
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
5
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
6
Lenalidomide Approved Phase 2 191732-72-6 216326
7
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
9
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15
Cobalamin Experimental Phase 2 13408-78-1 6857388
16 Tocotrienol Investigational Phase 2 6829-55-6
17 Micronutrients Phase 2
18 Nutrients Phase 2
19 Trace Elements Phase 2
20 Alkylating Agents Phase 1, Phase 2
21 Antineoplastic Agents, Alkylating Phase 1, Phase 2
22 Antioxidants Phase 2
23 Vitamins Phase 2
24 Vitamin B9 Phase 2
25 Vitamin B Complex Phase 2
26 Vitamin B 12 Phase 2
27 Hematinics Phase 2
28 Folate Phase 2
29 Vitamin B12 Phase 2
30 Angiogenesis Inhibitors Phase 2
31 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
32 Phosphodiesterase Inhibitors Phase 2
33 Angiogenesis Modulating Agents Phase 2
34 Phosphodiesterase 5 Inhibitors Phase 2
35 Vasodilator Agents Phase 2
36 Vaccines Phase 2
37 Ubiquinone Phase 2
38 Tocopherols Phase 2
39 Tocotrienols Phase 2
40 Tocotrienol, alpha Phase 2
41 Antifungal Agents Phase 2
42 Anti-Infective Agents Phase 2
43 Anti-Bacterial Agents Phase 2
44 Antibiotics, Antitubercular Phase 2
45 Immunosuppressive Agents Phase 2
46 Immunologic Factors Phase 2
47
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
48 Antirheumatic Agents Phase 1
49
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
50 Liver Extracts

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT01045460 Phase 2
2 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
3 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
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 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 Recruiting NCT01858558 Phase 2 No aMIL
9 EPI743-13-023: Long-Term Safety and Efficacy Evaluation of 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 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
12 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
13 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
14 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
15 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. Active, not recruiting NCT02342613 Phase 1
16 Minimally Invasive Liver Surgery for Metastases From Colorectal Cancer: Oncologic Outcome and Prognostic Factors Completed NCT01356706
17 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
18 The International Database for Leigh Syndrome Recruiting NCT03137355
19 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Tissue Study for Mitochondrial Disorders Enrolling by invitation NCT01803906
22 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

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:

41
Brain, Eye, Spinal Cord, Cerebellum, Kidney, Heart, Thalamus

Publications for Leigh Syndrome

Articles related to Leigh Syndrome:

(show top 50) (show all 1117)
# Title Authors PMID Year
1
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 9 38 8 71
15863660 2005
2
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. 9 38 8 71
15214016 2004
3
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 9 38 8 71
14595656 2003
4
Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 9 38 8 71
11938446 2002
5
A SURF1 gene mutation presenting as isolated leukodystrophy. 9 38 8 71
11409433 2001
6
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9 38 8 71
9837813 1998
7
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9 38 8 71
9843204 1998
8
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 38 8 71
15235026 2004
9
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. 38 8 71
14730434 2004
10
Leigh syndrome transmitted by uniparental disomy of chromosome 9. 38 8 71
10636738 1999
11
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 38 8 71
8602753 1996
12
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
21937992 2011
13
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. 8 71
16738010 2006
14
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 8 71
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. 9 38 71
18332249 2008
16
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 9 38 71
16326995 2006
17
Hypertrichosis in patients with SURF1 mutations. 9 38 8
16222681 2005
18
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 9 38 8
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. 9 38 71
12928484 2003
20
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. 9 38 8
14557577 2003
21
Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. 9 38 71
12776230 2003
22
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. 9 38 71
11317352 2001
23
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 9 38 71
10746561 2000
24
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 9 38 71
10647889 1999
25
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. 9 38 8
10443880 1999
26
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 9 38 8
7550341 1995
27
Leigh syndrome: One disorder, more than 75 monogenic causes. 38 8
26506407 2016
28
Nuclear Gene-Encoded Leigh Syndrome Overview 38 71
26425749 2015
29
Metabolic rescue in pluripotent cells from patients with mtDNA disease. 38 8
26176921 2015
30
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 38 8
22114105 2012
31
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 38 8
21617257 2011
32
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 38 8
19503089 2009
33
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 38 8
19107570 2008
34
NDUFA2 complex I mutation leads to Leigh disease. 38 8
18513682 2008
35
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 38 71
17400793 2007
36
Mitochondrial DNA Deletion Syndromes 38 71
20301382 2003
37
Mitochondrial DNA-Associated Leigh Syndrome and NARP 38 71
20301352 2003
38
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. 38 8
12925875 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. 38 71
12624137 2003
40
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 38 8
12529507 2003
41
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. 38 71
12205655 2002
42
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. 38 71
11799391 2002
43
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. 38 71
10894222 2000
44
Mitochondrial Disorders Overview 38 71
20301403 2000
45
Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. 38 8
9837811 1998
46
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 38 8
9837812 1998
47
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. 38 71
9266739 1997
48
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. 9 8
9063742 1997
49
Deficiency of respiratory chain complex I is a common cause of Leigh disease. 38 8
8687187 1996
50
Genetic heterogeneity in Leigh syndrome. 38 8
8687192 1996

Variations for Leigh Syndrome

ClinVar genetic disease variations for Leigh Syndrome:

6 (show top 50) (show all 663)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MRPS34 NM_023936.1(MRPS34): c.321+1G> T single nucleotide variant Pathogenic rs1161932777 16:1822799-1822799 16:1772798-1772798
2 SURF1 NM_003172.4(SURF1): c.32_38dup (p.Leu16fs) duplication Pathogenic rs1410388157 9:136223292-136223298 9:133356416-133356422
3 SURF1 NM_003172.4(SURF1): c.752-1G> C single nucleotide variant Pathogenic rs1391748504 9:136218998-136218998 9:133352143-133352143
4 NDUFS4 NM_002495.4(NDUFS4): c.99-1G> A single nucleotide variant Pathogenic rs376281345 5:52899281-52899281 5:53603451-53603451
5 NDUFAF2 NM_174889.5(NDUFAF2): c.221G> A (p.Trp74Ter) single nucleotide variant Pathogenic rs772294726 5:60394822-60394822 5:61098995-61098995
6 NDUFS4 NM_002495.4(NDUFS4): c.178-2A> G single nucleotide variant Pathogenic rs1554059248 5:52942061-52942061 5:53646231-53646231
7 NDUFS4 NM_002495.4(NDUFS4): c.470_471del (p.Lys156_Ser157insTer) deletion Pathogenic rs1554062427 5:52978993-52978994 5:53683163-53683164
8 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 MT:8363-8363 MT:8363-8363
9 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 MT:3243-3243 MT:3243-3243
10 MT-ATP6 NC_012920.1: m.8993T> C single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
11 MT-ATP6 NC_012920.1: m.9176T> C single nucleotide variant Pathogenic rs199476135 MT:9176-9176 MT:9176-9176
12 MT-ATP6 NC_012920.1: m.8851T> C single nucleotide variant Pathogenic rs199476136 MT:8851-8851 MT:8851-8851
13 MT-ATP6 NC_012920.1: m.9185T> C single nucleotide variant Pathogenic rs199476138 MT:9185-9185 MT:9185-9185
14 MT-ATP6 NC_012920.1: m.9176T> G single nucleotide variant Pathogenic rs199476135 MT:9176-9176 MT:9176-9176
15 MT-CO3 m.9537dupC duplication Pathogenic rs267606614 MT:9537-9537 MT:9537-9537
16 MT-ND6 NC_012920.1: m.14484T> C single nucleotide variant Pathogenic rs199476104 MT:14484-14484 MT:14484-14484
17 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 MT:14459-14459 MT:14459-14459
18 MT-ND6 m.14487T> C single nucleotide variant Pathogenic rs199476109 MT:14487-14487 MT:14487-14487
19 MT-ND5 m.12706T> C single nucleotide variant Pathogenic rs267606893 MT:12706-12706 MT:12706-12706
20 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 MT:13045-13045 MT:13045-13045
21 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 MT:13084-13084 MT:13084-13084
22 MT-ND5 m.13513G> A single nucleotide variant Pathogenic rs267606897 MT:13513-13513 MT:13513-13513
23 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 MT:13042-13042 MT:13042-13042
24 MT-ND4 m.11777C> A single nucleotide variant Pathogenic rs28384199 MT:11777-11777 MT:11777-11777
25 MT-ND3 m.10191T> C single nucleotide variant Pathogenic rs267606890 MT:10191-10191 MT:10191-10191
26 MT-ND3 m.10158T> C single nucleotide variant Pathogenic rs199476117 MT:10158-10158 MT:10158-10158
27 MT-ND3 m.10197G> A single nucleotide variant Pathogenic rs267606891 MT:10197-10197 MT:10197-10197
28 MT-ND2 m.4681T> C single nucleotide variant Pathogenic rs267606889 MT:4681-4681 MT:4681-4681
29 MT-ND1 NC_012920.1: m.3460G> A single nucleotide variant Pathogenic rs199476118 MT:3460-3460 MT:3460-3460
30 SURF1 SURF1, 4-BP INS, 572CCCT insertion Pathogenic
31 SURF1 SURF1, 765C-T single nucleotide variant Pathogenic
32 SURF1 SURF1, IVS4, T-C, +2 single nucleotide variant Pathogenic
33 SURF1 SURF1, 2-BP INS/10-BP DEL, NT326 indel Pathogenic
34 SURF1 SURF1, 2-BP DEL, 855CT deletion Pathogenic
35 SURF1 SURF1, 1-BP INS, 882T insertion Pathogenic
36 SURF1 NM_003172.4(SURF1): c.751C> T (p.Gln251Ter) single nucleotide variant Pathogenic rs121918657 9:136219301-136219301 9:133352446-133352446
37 SURF1 SURF1, 1-BP INS, 868T insertion Pathogenic
38 SURF1 SURF1, IVS5DS, T-G, +2 single nucleotide variant Pathogenic
39 SURF1 SURF1, 2-BP DEL, 550AG deletion Pathogenic
40 SURF1 NM_003172.4(SURF1): c.820T> G (p.Tyr274Asp) single nucleotide variant Pathogenic rs121918658 9:136218929-136218929 9:133352074-133352074
41 SURF1 SURF1, 2-BP DEL, 790AG deletion Pathogenic
42 MT-ATP6 NC_012920.1: m.8993T> G single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
43 SURF1 NM_003172.4(SURF1): c.371G> A (p.Gly124Glu) single nucleotide variant Pathogenic rs28933402 9:136220748-136220748 9:133353893-133353893
44 SURF1 NM_003172.4(SURF1): c.841_842CT[2] (p.Ser282fs) short repeat Pathogenic rs782316919 9:136218825-136218826 9:133351970-133351971
45 SURF1 NM_003172.4(SURF1): c.772C> T (p.Pro258Ser) single nucleotide variant Pathogenic rs1053850536 9:136218977-136218977 9:133352122-133352122
46 SURF1 NM_003172.4(SURF1): c.532A> T (p.Asn178Tyr) single nucleotide variant Pathogenic rs587753385 9:136219605-136219605 9:133352750-133352750
47 SURF1 NM_003172.4(SURF1): c.465_466del (p.Thr156fs) deletion Pathogenic 9:136220653-136220654 9:133353798-133353799
48 BCS1L NM_001257342.2(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 2:219525942-219525942 2:218661219-218661219
49 COX10 NM_001303.4(COX10): c.1007A> T (p.Asp336Val) single nucleotide variant Pathogenic rs104894557 17:14110205-14110205 17:14206888-14206888
50 COX10 NM_001303.4(COX10): c.1007A> G (p.Asp336Gly) single nucleotide variant Pathogenic rs104894557 17:14110205-14110205 17:14206888-14206888

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

74 (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 NARS2 p.Asn381Ser VAR_073724
12 POLG p.Gly848Ser VAR_023675 rs113994098
13 POLG p.Arg232His VAR_058871 rs113994093
14 SCO2 p.Gly193Ser VAR_076281 rs759452074
15 SCO2 p.Met258Thr VAR_076282 rs135287828
16 SDHA p.Arg554Trp VAR_002449 rs9809219
17 SDHA p.Ala524Val VAR_016878 rs137852767
18 SDHA p.Cys189Gly VAR_074022
19 SURF1 p.Gly124Glu VAR_007450 rs28933402
20 SURF1 p.Ile246Thr VAR_007452
21 SURF1 p.Gly124Arg VAR_015258 rs782033035
22 SURF1 p.Tyr274Asp VAR_015259 rs121918658
23 SURF1 p.Leu90Pro VAR_068649 rs782024654
24 SURF1 p.Val177Gly VAR_068650
25 SURF1 p.Gly205Glu VAR_068651
26 SURF1 p.Met235Thr VAR_068652 rs131981173
27 SURF1 p.Ala248Asp VAR_068653
28 SURF1 p.Gly257Arg VAR_068654

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:

37
# 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 mitochondrial membrane GO:0031966 9.8 MT-ND6 MT-ND4 MT-ND3 MT-ND1 COX15 COX10
2 mitochondrial respiratory chain complex I GO:0005747 9.63 NDUFS4 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
3 respiratory chain GO:0070469 9.5 NDUFS4 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
4 mitochondrial inner membrane GO:0005743 9.5 SURF1 SDHA NDUFS4 NDUFAF2 MT-ND6 MT-ND5
5 mitochondrial respiratory chain GO:0005746 9.4 SURF1 COX15
6 cytochrome complex GO:0070069 9.37 COX15 COX10
7 membrane GO:0016020 10.31 SURF1 SDHA NDUFS4 NDUFAF2 MT-ND6 MT-ND5
8 integral component of membrane GO:0016021 10.23 SURF1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND2
9 mitochondrion GO:0005739 10.07 SURF1 SDHA NDUFS4 NDUFAF2 MTFMT MT-ND5

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 9.85 SURF1 SDHA NDUFS4 MT-ND6 MT-ND5 MT-ND4
2 proton transmembrane transport GO:1902600 9.78 SURF1 MT-CO3 COX15 COX10
3 electron transport chain GO:0022900 9.7 SURF1 SDHA NDUFS4
4 reactive oxygen species metabolic process GO:0072593 9.67 NDUFS4 NDUFAF2 MT-ND2
5 cellular respiration GO:0045333 9.67 NDUFS4 NDUFAF2 COX15 COX10
6 aerobic respiration GO:0009060 9.65 SURF1 MT-ND4 MT-ND1 MT-CO3 COX10
7 respiratory chain complex IV assembly GO:0008535 9.62 SURF1 MT-CO3 COX15 COX10
8 respiratory electron transport chain GO:0022904 9.61 SDHA NDUFAF2 MT-CO3
9 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.58 MT-CO3 COX15 COX10
10 heme biosynthetic process GO:0006783 9.55 COX15 COX10
11 mitochondrial respiratory chain complex IV assembly GO:0033617 9.54 SURF1 BCS1L
12 ATP synthesis coupled electron transport GO:0042773 9.51 MT-ND5 MT-ND4
13 heme a biosynthetic process GO:0006784 9.46 COX15 COX10
14 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 NDUFS4 MT-ND5 MT-ND4 MT-ND3 MT-ND2 MT-ND1
15 mitochondrial respiratory chain complex I assembly GO:0032981 9.28 NDUFS4 NDUFAF2 MT-ND6 MT-ND5 MT-ND4 MT-ND3
16 ATP biosynthetic process GO:0006754 9.26 MT-ATP6

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.5 SDHA NDUFAF2 MT-CO3
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 SDHA COX15
3 NADH dehydrogenase activity GO:0003954 9.33 MT-ND5 MT-ND4 MT-ND1
4 oxidoreductase activity GO:0016491 9.26 SDHA MT-ND2
5 cytochrome-c oxidase activity GO:0004129 9.26 SURF1 MT-CO3 COX15 COX10
6 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 NDUFS4 NDUFAF2 MT-ND6 MT-ND5 MT-ND4 MT-ND3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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