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Term:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (DOID:9007747)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Bjornstad syndrome  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency +   
combined oxidative phosphorylation deficiency 12  
Cowden-Like Syndrome  
Cystic Leukoencephalopathy without Megalencephaly  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Demyelinating Autoimmune Diseases, CNS +   
Deoxyguanosine Kinase Deficiency  
early infantile epileptic encephalopathy 39  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
ethylmalonic encephalopathy  
Friedreich ataxia +   
GRACILE syndrome  
Hereditary Central Nervous System Demyelinating Diseases +   
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
hypotonia-cystinuria syndrome  
Labrune Syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT  
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Posterior Leukoencephalopathy Syndrome  
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy +   
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Ribose 5-Phosphate Isomerase Deficiency  
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
spastic ataxia 3  
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
Telencephalic Leukoencephalopathy 
vascular dementia +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: LBSL ;   LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION ;   Mitochondrial Aspartyl-tRNA Synthetase Deficiency
Primary IDs: MESH:C567009 ;   RDO:0015198
Alternate IDs: OMIM:611105

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.