MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Leukoencephalopathies (D056784)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6395
Name:Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Definition:
Alternative IDs:OMIM:611105
ParentIDs:MESH:D028361|MESH:D056784
TreeNumbers:C10.228.140.695/C567009 |C18.452.660/C567009
Synonyms:LBSL |Mitochondrial Aspartyl-tRNA Synthetase Deficiency
Slim Mappings:Metabolic disease|Nervous system disease
Reference: MedGen: C567009
MeSH: C567009
OMIM: 611105;
MSeqDR LSDB: 00418;  
Genes: DARS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001251Ataxia
3 HP:0003487Babinski sign
4 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
rare
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
rare
6 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
7 HP:0001265Hyporeflexia
8 HP:0002352Leukoencephalopathy
9 HP:0001270Motor delay
10 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
11 HP:0000639Nystagmus
12 HP:0003477Peripheral axonal neuropathy
NAMDC:  Neuropathy axonal
13 HP:0003202Skeletal muscle atrophy
14 HP:0003677Slow progression
15 HP:0001257Spasticity
NAMDC:  Spasticity
16 HP:0001337Tremor
17 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018122.4(DARS2):c.133A>G (p.Ser45Gly)55157DARS2Pathogenic121918209RCV000001118; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173795830173795830NM_018122.4:c.133A>GNP_060592.2:p.Ser45GlyNC_000001.10:g.173795830A>GOMIM Allelic Variant:610956.0007C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.228-21_228-20delTTinsC55157DARS2Pathogenic367543010RCV000001112; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173797450173797451NM_018122.4:c.228-21_228-20delTTinsCNC_000001.10:g.173797450_173797451delTTinsCOMIM Allelic Variant:610956.0001C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.455G>T (p.Cys152Phe)55157DARS2Pathogenic121918208RCV000001116; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173800731173800731NM_018122.4:c.455G>TNP_060592.2:p.Cys152PheNC_000001.10:g.173800731G>TOMIM Allelic Variant:610956.0005C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.492+2T>C55157DARS2Pathogenic142433332RCV000001117; RCV000194299; NMedGen:C1970180,OMIM:611105,ORPHA:137898; MedGen:CN2300841173800770173800770NM_018122.4:c.492+2T>CNC_000001.10:g.173800770T>COMIM Allelic Variant:610956.0006CN230084 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.536G>A (p.Arg179His)55157DARS2Pathogenic121918210RCV000001119; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173802557173802557NM_018122.4:c.536G>ANP_060592.2:p.Arg179HisNC_000001.10:g.173802557G>AOMIM Allelic Variant:610956.0008C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.787C>T (p.Arg263Ter)55157DARS2Pathogenic121918206RCV000001114; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173807344173807344NM_018122.4:c.787C>TNP_060592.2:p.Arg263TerNC_000001.10:g.173807344C>TOMIM Allelic Variant:610956.0003C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.788G>A (p.Arg263Gln)55157DARS2Pathogenic121918207RCV000001115; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173807345173807345NM_018122.4:c.788G>ANP_060592.2:p.Arg263GlnNC_000001.10:g.173807345G>AOMIM Allelic Variant:610956.0004C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.1273G>T (p.Glu425Ter)55157DARS2Pathogenic121918211RCV000001120; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173819546173819546NM_018122.4:c.1273G>TNP_060592.2:p.Glu425TerNC_000001.10:g.173819546G>TOMIM Allelic Variant:610956.0009C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.1825C>T (p.Arg609Trp)55157DARS2Pathogenic200670286RCV000023848; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173826730173826730NM_018122.4:c.1825C>TNP_060592.2:p.Arg609TrpNC_000001.10:g.173826730C>TOMIM Allelic Variant:610956.0013C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.1837C>T (p.Leu613Phe)55157DARS2Pathogenic121918212RCV000001121; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173826742173826742NM_018122.4:c.1837C>TNP_060592.2:p.Leu613PheNC_000001.10:g.173826742C>TOMIM Allelic Variant:610956.0010C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.1876C>G (p.Leu626Val)55157DARS2Pathogenic121918205RCV000001113; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173826781173826781NM_018122.4:c.1876C>GNP_060592.2:p.Leu626ValNC_000001.10:g.173826781C>GOMIM Allelic Variant:610956.0002C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
NM_018122.4(DARS2):c.1877T>A (p.Leu626Gln)55157DARS2Pathogenic121918213RCV000001122; NMedGen:C1970180,OMIM:611105,ORPHA:1378981173826782173826782NM_018122.4:c.1877T>ANP_060592.2:p.Leu626GlnNC_000001.10:g.173826782T>AOMIM Allelic Variant:610956.0011C1970180 611105 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000117593 MSeqDR Search EnsemblDARS211612aspartyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:25538]00418

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