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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Hypoglycemia (D007003)
Parent Node:
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Metabolism, Inborn Errors (D008661)
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Mitochondrial Diseases (D028361)
..Starting node
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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)

       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:17
Name:3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Definition:
Alternative IDs:OMIM:605911
ParentIDs:MESH:D007003|MESH:D008661|MESH:D028361
TreeNumbers:C16.320.565/C567784 |C18.452.394.984/C567784 |C18.452.648/C567784 |C18.452.660/C567784
Synonyms:HMGCS2 Deficiency |Mitochondrial HMG-CoA Synthase Deficiency
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C567784
MeSH: C567784
OMIM: 605911;
MSeqDR LSDB: 00105;  
Genes: HMGCS2;
Phenotypes
1 HP:0001943Hypoglycemiahallmark
2 HP:0001250Seizures
NAMDC:  Seizures
hallmark
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His)3158HMGCS2Pathogenic137852639RCV000009842; NMedGen:C2751532,OMIM:605911,ORPHA:357011120293453120293453NM_001166107.1:c.1373G>ANP_001159579.1:p.Arg458HisNC_000001.10:g.120293453C>TOMIM Allelic Variant:600234.0004C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.1144C>T (p.Arg382Ter)3158HMGCS2Pathogenic137852637RCV000009840; NMedGen:C2751532,OMIM:605911,ORPHA:357011120295927120295927NM_001166107.1:c.1144C>TNP_001159579.1:p.Arg382TerNC_000001.10:g.120295927G>AOMIM Allelic Variant:600234.0002C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg)3158HMGCS2Pathogenic137852638RCV000009841; NMedGen:C2751532,OMIM:605911,ORPHA:357011120302538120302538NM_005518.3:c.634G>ANP_005509.1:p.Gly212ArgNC_000001.10:g.120302538C>TOMIM Allelic Variant:600234.0003C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu)3158HMGCS2Pathogenic137852636RCV000009839; NMedGen:C2751532,OMIM:605911,ORPHA:357011120306834120306834NM_001166107.1:c.520T>CNP_001159579.1:p.Phe174LeuNC_000001.10:g.120306834A>GOMIM Allelic Variant:600234.0001C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys)3158HMGCS2Pathogenic137852640RCV000009844; NMedGen:C2751532,OMIM:605911,ORPHA:357011120306854120306854NM_001166107.1:c.500A>GNP_001159579.1:p.Tyr167CysNC_000001.10:g.120306854T>COMIM Allelic Variant:600234.0006C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met)3158HMGCS2Pathogenic28937320RCV000009843; NMedGen:C2751532,OMIM:605911,ORPHA:357011120307194120307194NM_001166107.1:c.160G>ANP_001159579.1:p.Val54MetNC_000001.10:g.120307194C>TOMIM Allelic Variant:600234.0005C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000134240 MSeqDR Search EnsemblHMGCS21663-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) [Source:HGNC Symbol;Acc:5008]00105

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