|
LS
MCID: LGH007
MIFTS: 69
|
Leigh Syndrome (LS)
Categories:
Cardiovascular diseases, Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Leigh Syndrome:
Characteristics:Orphanet epidemiological data:59
maternally-inherited 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
leigh syndrome:
Onset and clinical course phenotypic variability infantile onset progressive Inheritance heterogeneous autosomal recessive inheritance mitochondrial inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Mental diseases
ICD10:
34
External Ids:
|
|
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.
MalaCards based summary : Leigh Syndrome, also known as leigh disease, is related to leigh syndrome with leukodystrophy and mitochondrial complex iv deficiency, 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 Pyruvate metabolism. The drugs Cysteamine and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and thalamus, and related phenotypes are ptosis and nystagmus 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. 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. NIH Rare Diseases : 53 Leigh syndrome is a rare, inheritedneurodegenerative 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 an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998). Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (252010), complex II deficiency (252011), complex III deficiency (124000), complex IV deficiency (cytochrome c oxidase; 220110), or complex V deficiency (604273). (256000) UniProtKB/Swiss-Prot : 75 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 : 76 Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:256000Human phenotypes related to Leigh Syndrome:32 (show all 35)
UMLS symptoms related to Leigh Syndrome:seizures, ataxia, ophthalmoplegia, muscle spasticity GenomeRNAi Phenotypes related to Leigh Syndrome according to GeneCards Suite gene sharing:26 (show all 23)
|
Drugs for Leigh Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:(show all 12)
Cochrane evidence based reviews: leigh disease |
Genetic tests related to Leigh Syndrome:
|
MalaCards organs/tissues related to Leigh Syndrome:41
Spinal Cord,
Cerebellum,
Thalamus,
Kidney,
Brain,
Eye,
Heart
|
Articles related to Leigh Syndrome:(show top 50) (show all 399)
|
|
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Leigh Syndrome:75 (show all 35)
ClinVar genetic disease variations for Leigh Syndrome:6 (show top 50) (show all 1268)
|
|
Search
GEO
for disease gene expression data for Leigh Syndrome.
|
Pathways related to Leigh Syndrome according to KEGG:37
Pathways related to Leigh Syndrome according to GeneCards Suite gene sharing:
|
Cellular components related to Leigh Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Leigh Syndrome according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Leigh Syndrome according to GeneCards Suite gene sharing:
|
|