Leigh Syndrome (LS)

Alias:
Leigh Disease
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency
Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due to Mitochondrial Complex I Deficiency
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency
Necrotizing Encephalopathy, Infantile Subacute, of Leigh
Leigh Syndrome Due to Mitochondrial Complex V Deficiency
Subacute Necrotizing Encephalomyelopathy
Sne
Ls
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency
Necrotizing Encephalopathy Infantile Subacute of Leigh
Juvenile Subacute Necrotizing Encephalomyelopathy
Encephalopathy, Subacute Necrotizing, Infantile
Necrotizing Encephalopathy, Infantile Subacute
Encephalopathy, Subacute Necrotizing, Juvenile
Juvenile Subacute Necrotizing Encephalopathy
Infantile Necrotizing Encephalomyelopathy
Subacute Necrotising Encephalomyelopathy
Maternally Inherited Leigh Syndrome
Subacute Necrotising Encephalopathy
Leigh's Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leigh Syndrome, also known as leigh disease, is related to mitochondrial complex iv deficiency, nuclear type 5 and mitochondrial dna-associated leigh syndrome, and has symptoms including ataxia, muscle spasticity and ophthalmoplegia. An important gene associated with Leigh Syndrome is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Cysteamine and Ubidecarenone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are abnormality of movement and increased serum lactate
Related ID:
MESH:D007888
ICD11:672871576

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
Mit
XLD
All ages
1-9/100000
191
847
237

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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