Leigh syndrome, nuclear

Preferred Label : Leigh syndrome, nuclear;

Symbol : NULS;

CISMeF acronym : LS; SNE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Necrotizing encephalopathy, infantile subacute, of leigh; SNE;

Description : 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).;

Inheritance : Autosomal recessive; Mitochondrial;

Molecular basis : Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 7 gene (NDUFS7, 601825.0001); Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12 gene (NDUFA12, 614530.0001); Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, 600857.0001); Caused by mutation in the cytochrome c oxidase, subunit 15 gene (COX15, 603646.0001); Caused by mutation in the surfeit-1 gene (SURF1, 185620.0001); Caused by mutation in the NADH dehydrogenase, subunit 3 gene (MTND3, 516002.0003); Caused by mutation in the translational activator of mitochondrially encoded cytochrome c oxidase subunit 1 gene (TACO1, 612958.0001); Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001); Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 2 gene (NDUFA2, 602137.0001); Caused by mutation in the homolog of the S. cerevisiae PET100 gene (PET100, 614770.0001).; Caused by mutation in the NADH dehydrogenase, subunit 2 gene (MTND2, 516001.0006); Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 gene (NDUFS4, 602694.0004); Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 1 gene (NDUFS1, 157655.0001); Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 8 gene (NDUFS8, 602141.0001); Caused by mutation in the FAD-dependent oxidoreductase domain-containing protein 1 gene (FOXRED1, 613622.0001); Caused by mutation in the NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 gene (NDUFAF5, 612360.0002); Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 gene (NDUFA10, 603835.0001); Caused by mutation in the NADH dehydrogenase, subunit 5 gene (MTND5, 516005.0003); Caused by mutation in the mitochondrial tRNA (lysine) gene (MTTK, 590060.0001); Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 3 gene (NDUFV3, 603846.0001); Caused by mutation in the C8ORF38 gene (C8ORF38, 612392.0001); Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 9 gene (NDUFA9, 603834.0001); Caused by mutation in the ATP synthase 6 gene (MTATP6, 516060.0001); Caused by mutation in the cytochrome c oxidase III gene (MTCO3, 516050.0005); Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0002); Caused by mutation in the NADH dehydrogenase, subunit 6 gene (MTND6, 516006.0002); Caused by mutation in the mitochondrial tRNA (valine) gene (MTTV, 590105.0002);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate;

Prefixed ID : #256000;

Details

Origin ID

256000;

UMLS CUI

C2931891;

Automatic exact mappings (from CISMeF team)
- Light Scattering [NCIt concept]
- Lisu Chinese [NCIt concept]
- Liter [NCIt concept]
- Liter (qualifier value) [SNOMED CT concept]
- Lower case Roman letter l (qualifier value) [SNOMED CT concept]
- Mitochondrial DNA-associated Leigh syndrome [ORDO Disease]
- Necrotizing encephalopathy, infantile subacute, of Leigh [MeSH concept]
- Roman numeral L (qualifier value) [SNOMED CT concept]
- Sporadic Leigh syndrome [ORDO Disease]
- Upper case Roman letter L (qualifier value) [SNOMED CT concept]
- bed rest [MeSH Descriptor]
- lateral sulcus [UBERON concept]
- leigh syndrome due to mitochondrial complex I deficiency [MeSH concept]
- leigh syndrome due to mitochondrial complex I deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex II deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex II deficiency [MeSH concept]
- leigh syndrome due to mitochondrial complex III deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex III deficiency [MeSH concept]
- leigh syndrome due to mitochondrial complex IV deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex IV deficiency [MeSH concept]
- leigh syndrome due to mitochondrial complex V deficiency [MeSH Supplementary Concept]
- leigh syndrome due to mitochondrial complex V deficiency [MeSH concept]
- lipoate synthase activity [GO term]
- necrotizing encephalopathy, infantile subacute, of leigh [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Leigh Disease [NCIt concept]
- Leigh disease [Disease (Nov.)]
- Leigh disease [PASCAL descriptor]
- Leigh disease [DO Concept]
- Leigh disease [ACR pathology]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh syndrome [ORDO Disease]
- Leigh syndrome [MedDRA LLT]
- Leigh's disease (disorder) [SNOMED CT concept]
- leigh disease [MeSH Descriptor]
- leigh disease [MeSH concept]
- leigh's disease [SNOMED Notion]
DO Cross reference
- Leigh disease [DO Concept]
False automatic mappings
- Lesotho [NCIt concept]
- Liechtenstein [NCIt concept]
HPO term(s)
- Abnormal pattern of respiration [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- CNS demyelination [HPO term]
- Childhood onset [HPO term]
- Demyelination [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Emotional lability [HPO term]
- Failure to thrive [HPO term]
- Focal substantia nigra T2 hyperintensity [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hepatocellular necrosis [HPO term]
- Heterogeneous [HPO term]
- Hyperreflexia [HPO term]
- Hypertrichosis [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Mitochondrial inheritance [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Leigh syndrome [ORDO Disease]
- Leigh syndrome with cardiomyopathy [ORDO Disease]
- Leigh syndrome with leukodystrophy [ORDO Disease]
- Mitochondrial DNA-associated Leigh syndrome [ORDO Disease]
- Sporadic Leigh syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leigh Disease [NCIt concept]
- Leigh disease [ACR pathology]
- Leigh disease [DO Concept]
- Leigh disease [PASCAL descriptor]
- Leigh disease [Disease (Nov.)]
- Leigh syndrome [MedDRA LLT]
- Leigh syndrome [ORDO Disease]
- Leigh syndrome [ICD-11 Sub-sub category]
- Leigh's disease (disorder) [SNOMED CT concept]
- Necrotizing encephalopathy, infantile subacute, of Leigh [MeSH concept]
- leigh disease [MeSH Descriptor]
- leigh disease [MeSH concept]
- leigh's disease [SNOMED Notion]
- necrotizing encephalopathy, infantile subacute, of leigh [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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