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 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 |
| 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 |
D030401 D015325 |
| HN |
1991(1985) |
| Inverse of AQ |
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 |
| Inverse of RO | |
| Machine permutation |
1991; see BRAIN DISEASES, METABOLIC 1985-1990 |
| Mapped from |
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 |
| MDA |
19840406 |
| MMR |
20130708 |
| MN |
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 |
| notation |
D007888 |
| prefLabel |
Leigh Disease |
| TERMUI |
T368901 T368905 T368893 T368906 T368899 T373333 T841894 T023525 T368898 T368907 T368896 T368909 T368897 T368912 T368911 T368908 T368910 T023524 T368900 |
| TH |
UNK (19XX) NLM (1985) NLM (2000) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D015323 |