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GENE - TERM ANNOTATION REPORT

CRRD ID: 620561
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Mt-nd6
Name: mitochondrially encoded NADH dehydrogenase 6
Acc ID: DOID:3652
Term: Leigh disease
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).
Definition Source(s): MESH:D007888, http://en.wikipedia.org/wiki/Leigh%27s_disease, http://ghr.nlm.nih.gov/condition/leigh-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13487596482231CRRDDNA:missense mutation: :m.14487T>C (p.M63V) (human)

 
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Leigh Disease

PMID:10894222, PMID:14735585, PMID:16380132, PMID:7654063, PMID:8016139
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Leigh's disease

PMID:10072046, PMID:10631164, PMID:12205655, PMID:12736867, PMID:12827453, PMID:1463007, PMID:15954041, PMID:1634041, PMID:18674747, PMID:5511487, PMID:9012411, PMID:9849804
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Leigh's disease

PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:15576045
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.