Leigh Disease

Subacute Necrotizing Encephalopathies

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

http://purl.bioontology.org/ontology/MESH/D007888

Subacute Necrotizing Encephalopathies

Subacute Necrotizing Encephalopathy, Infantile

Necrotizing Encephalomyelopathy, Subacute

Subacute Necrotizing Encephalomyelopathy

Subacute Necrotizing Encephalopathy, Juvenile

Encephalopathy, Subacute Necrotizing, Juvenile

Leigh Disease, Infantile

Encephalopathies, Subacute Necrotizing

Encephalomyelitides, Subacute Necrotizing

Necrotizing Encephalopathy, Subacute

Leighs Disease

Encephalopathy, Subacute Necrotizing

Subacute Necrotizing Encephalomyelopathies

Disease, Leigh's

Juvenile Subacute Necrotizing Encephalopathy

Leigh Disease, Juvenile

Encephalomyelitis, Subacute Necrotizing

Leigh Syndrome

Encephalopathy, Subacute Necrotizing, Infantile

Infantile Leigh Disease

Necrotizing Encephalopathies, Subacute

Juvenile Leigh Disease

Subacute Necrotizing Encephalomyelitis

Leigh's Disease

Subacute Necrotizing Encephalopathy

Necrotizing Encephalomyelitis, Subacute

Necrotizing Encephalomyelitides, Subacute

Encephalomyelopathy, Subacute Necrotizing

Subacute Necrotizing Encephalomyelitides

Subacute Necrotizing Encephalomyelitis, Infantile

Encephalomyelopathies, Subacute Necrotizing

Infantile Subacute Necrotizing Encephalopathy

Necrotizing Encephalomyelopathies, Subacute

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

C0023264

C0751267

C0751268

1

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

19910101

D030401

D015325

1991(1985)

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/D030401

http://purl.bioontology.org/ontology/MESH/D015325

http://purl.bioontology.org/ontology/MESH/D007706

http://purl.bioontology.org/ontology/MESH/D029242

http://purl.bioontology.org/ontology/MESH/D020176

http://purl.bioontology.org/ontology/MESH/D020279

http://purl.bioontology.org/ontology/MESH/D015324

http://purl.bioontology.org/ontology/MESH/D007625

http://purl.bioontology.org/ontology/MESH/D020158

http://purl.bioontology.org/ontology/MESH/D000326

http://purl.bioontology.org/ontology/MESH/D056806

http://purl.bioontology.org/ontology/MESH/D010661

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D054078

http://purl.bioontology.org/ontology/MESH/D054069

http://purl.bioontology.org/ontology/MESH/D017243

http://purl.bioontology.org/ontology/MESH/D029241

http://purl.bioontology.org/ontology/MESH/D052919

http://purl.bioontology.org/ontology/MESH/D006527

http://purl.bioontology.org/ontology/MESH/D020165

http://purl.bioontology.org/ontology/MESH/D017241

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D006712

http://purl.bioontology.org/ontology/MESH/D030401

http://purl.bioontology.org/ontology/MESH/D028243

http://purl.bioontology.org/ontology/MESH/D015325

http://purl.bioontology.org/ontology/MESH/D007926

http://purl.bioontology.org/ontology/MESH/D012035

http://purl.bioontology.org/ontology/MESH/D020167

http://purl.bioontology.org/ontology/MESH/D006250

http://purl.bioontology.org/ontology/MESH/D005693

http://purl.bioontology.org/ontology/MESH/D020140

http://purl.bioontology.org/ontology/MESH/D017240

http://purl.bioontology.org/ontology/MESH/D008375

http://purl.bioontology.org/ontology/MESH/D005621

1991; see BRAIN DISEASES, METABOLIC 1985-1990

http://purl.bioontology.org/ontology/MESH/C564963

http://purl.bioontology.org/ontology/MESH/C564114

http://purl.bioontology.org/ontology/MESH/C564021

http://purl.bioontology.org/ontology/MESH/C536035

http://purl.bioontology.org/ontology/MESH/C536255

http://purl.bioontology.org/ontology/MESH/C564962

http://purl.bioontology.org/ontology/MESH/C538590

http://purl.bioontology.org/ontology/MESH/C535470

http://purl.bioontology.org/ontology/MESH/C564964

http://purl.bioontology.org/ontology/MESH/C564961

http://purl.bioontology.org/ontology/MESH/C537004

http://purl.bioontology.org/ontology/MESH/C563530

19840406

20130708

C18.452.132.100.412

C10.228.140.163.100.412

C18.452.648.189.412

C16.320.565.202.810.444

C18.452.648.202.810.444

C18.452.660.520

C16.320.565.189.412

D007888

Leigh Disease

T368901

T368905

T368893

T368906

T368899

T373333

T841894

T023525

T368898

T368907

T368896

T368909

T368897

T368912

T368911

T368908

T368910

T023524

T368900

UNK (19XX)

NLM (1985)

NLM (2000)

ORD (2010)

OMIM (2013)

GHR (2014)

T047

http://purl.bioontology.org/ontology/MESH/D015323

http://purl.bioontology.org/ontology/MESH/D028361

http://purl.bioontology.org/ontology/MESH/D020739