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Leigh syndrome

Disease Summary
Associated Targets (74)
Tbio

48

Tclin

22

Tchem

4


GARD Rare
Mondo Description Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
Uniprot Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009723:  Leigh syndrome
GARD:0006877: 
MESH:D007888: 
NCIT:C84814: 
Orphanet:506: 
SCTID:29570005: 
UMLS:C0023264: