loading...| Preferred Name |
Leigh Disease |
|
| Synonyms |
Subacute Necrotizing Encephalopathies |
|
| Definitions |
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). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007888 |
|
| altLabel |
Subacute Necrotizing Encephalopathies Subacute Necrotizing Encephalomyelitis Encephalopathy, Subacute Necrotizing, Juvenile Infantile Subacute Necrotizing Encephalopathy Necrotizing Encephalopathies, Subacute Juvenile Subacute Necrotizing Encephalopathy Necrotizing Encephalomyelitides, Subacute Leigh's Disease Subacute Necrotizing Encephalomyelitides Subacute Necrotizing Encephalopathy, Juvenile Juvenile Leigh Disease Encephalomyelitis, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelitides, Subacute Necrotizing Leigh Disease, Infantile Encephalopathy, Subacute Necrotizing Necrotizing Encephalomyelopathies, Subacute Encephalopathy, Subacute Necrotizing, Infantile Subacute Necrotizing Encephalopathy, Infantile Subacute Necrotizing Encephalomyelitis, Infantile Encephalopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Necrotizing Leighs Disease Disease, Leigh's Necrotizing Encephalomyelitis, Subacute Subacute Necrotizing Encephalomyelopathy Leigh Syndrome Subacute Necrotizing Encephalomyelopathies Infantile Leigh Disease Leigh Disease, Juvenile Necrotizing Encephalopathy, Subacute Subacute Necrotizing Encephalopathy Necrotizing Encephalomyelopathy, Subacute |
|
| AQL |
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 |
|
| cui |
C0023264 C0751267 C0751268 |
|
| DC |
1 |
|
| definition |
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). |
|
| DX |
19910101 |
|
| FX |
D015325 D030401 |
|
| HN |
1991(1985) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1991; see BRAIN DISEASES, METABOLIC 1985-1990 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564961 http://purl.bioontology.org/ontology/MESH/C564963 http://purl.bioontology.org/ontology/MESH/C564964 http://purl.bioontology.org/ontology/MESH/C564962 http://purl.bioontology.org/ontology/MESH/C536035 http://purl.bioontology.org/ontology/MESH/C535470 http://purl.bioontology.org/ontology/MESH/C537004 http://purl.bioontology.org/ontology/MESH/C564114 http://purl.bioontology.org/ontology/MESH/C563530 http://purl.bioontology.org/ontology/MESH/C564021 |
|
| MDA |
19840406 |
|
| MMR |
20130708 |
|
| MN |
C18.452.648.189.412 C18.452.660.520 C16.320.565.202.810.444 C10.228.140.163.100.412 C16.320.565.189.412 C18.452.648.202.810.444 C18.452.132.100.412 |
|
| notation |
D007888 |
|
| prefLabel |
Leigh Disease |
|
| TERMUI |
T373333 T368897 T368893 T368901 T023524 T368896 T368908 T368909 T368898 T368905 T368906 T368911 T368912 T368899 T841894 T368900 T023525 T368907 T368910 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (1985) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D028361 |