MSeqDR Mitochondrial Disease Portal


 
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Hypoglycemia (D007003)
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Metabolism, Inborn Errors (D008661)
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Mitochondrial Diseases (D028361)
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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_005518.3(HMGCS2):c.*78A>G3158HMGCS2Uncertain significance143718202RCV000372865; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120291392120291392-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.*6-11_*6-8delGTTT3158HMGCS2Uncertain significance757178898RCV000278550; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120291472120291475-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1522G>A (p.Val508Ile)3158HMGCS2Uncertain significance76773981RCV000342894; RCV000756249; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN5172021120293430120293430-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1513C>T (p.Arg505Trp)3158HMGCS2Uncertain significance780044819RCV000402158; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120293439120293439-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1499G>A (p.Arg500His)3158HMGCS2Conflicting interpretations of pathogenicity137852639RCV000009842; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120293453120293453OMIM Allelic Variant:600234.0004C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1425T>C (p.Asn475=)3158HMGCS2Likely benign751604096RCV000647362; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120293527120293527-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1420+13T>C3158HMGCS2Uncertain significance771878586RCV000284565; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120295159120295159-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1419G>A (p.Lys473=)3158HMGCS2Benign/Likely benign142776952RCV000339641; RCV000419883; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120295173120295173-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1270C>T (p.Arg424Ter)3158HMGCS2Uncertain significance137852637RCV000009840; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120295927120295927OMIM Allelic Variant:600234.0002C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1236T>C (p.Tyr412=)3158HMGCS2Uncertain significance773364048RCV000309230; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120295961120295961-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.1061+1G>C3158HMGCS2Likely pathogenic-1RCV000721978; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120298049120298049-
NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys)3158HMGCS2Conflicting interpretations of pathogenicity151328418RCV000364022; RCV000418713; RCV000607592; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN517202; MedGen:CN1693741120298113120298113-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.1078T>G (p.Ser360Ala)3158HMGCS2Uncertain significance1286992834RCV000554427; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120298159120298159-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.891-2delA3158HMGCS2Pathogenic1553240165RCV000578418; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120298222120298222-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.894G>A (p.Met298Ile)3158HMGCS2Uncertain significance-1RCV000691803; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120300018120300018-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.862C>A (p.Arg288=)3158HMGCS2Conflicting interpretations of pathogenicity142637231RCV000392896; RCV000431451; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120300050120300050-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.858C>T (p.Ser286=)3158HMGCS2Conflicting interpretations of pathogenicity1992376RCV000315225; RCV000596891; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120300054120300054-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.851-14G>A3158HMGCS2Conflicting interpretations of pathogenicity188523700RCV000369940; RCV000442121; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120300075120300075-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.646delT (p.Ser216Profs)3158HMGCS2Pathogenic1553240525RCV000578257; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120301819120301819-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg)3158HMGCS2Pathogenic/Likely pathogenic137852638RCV000009841; RCV000498667; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN5172021120302538120302538OMIM Allelic Variant:600234.0003,UniProtKB (protein):P54868#VAR_032759C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.621C>T (p.Pro207=)3158HMGCS2Conflicting interpretations of pathogenicity886045207RCV000273632; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120302551120302551-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.595G>A (p.Val199Ile)3158HMGCS2Uncertain significance150140061RCV000355387; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120302577120302577-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu)3158HMGCS2Pathogenic137852636RCV000009839; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120306834120306834OMIM Allelic Variant:600234.0001,UniProtKB (protein):P54868#VAR_032711C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys)3158HMGCS2Pathogenic137852640RCV000009844; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120306854120306854OMIM Allelic Variant:600234.0006,UniProtKB (protein):P54868#VAR_032758C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.347G>A (p.Arg116His)3158HMGCS2Uncertain significance-1RCV000700818; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120307007120307007-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.346C>T (p.Arg116Cys)3158HMGCS2Conflicting interpretations of pathogenicity200607527RCV000697575; RCV000185972; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN5172021120307008120307008-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.275G>A (p.Arg92His)3158HMGCS2Uncertain significance144921290RCV000262956; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120307079120307079-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.270G>A (p.Gln90=)3158HMGCS2Conflicting interpretations of pathogenicity41302817RCV000315699; RCV000424075; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120307084120307084-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.174C>T (p.Ala58=)3158HMGCS2Conflicting interpretations of pathogenicity138739620RCV000372694; RCV000437286; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120307180120307180-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met)3158HMGCS2Pathogenic28937320RCV000009843; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120307194120307194OMIM Allelic Variant:600234.0005,UniProtKB (protein):P54868#VAR_032757C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.95C>T (p.Ala32Val)3158HMGCS2Uncertain significance199651321RCV000348168; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120311373120311373-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.88C>G (p.Pro30Ala)3158HMGCS2Uncertain significance202069145RCV000381823; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120311380120311380-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.73C>G (p.Pro25Ala)3158HMGCS2Conflicting interpretations of pathogenicity144744634RCV000647361; RCV000185971; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120311395120311395-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.71C>T (p.Thr24Ile)3158HMGCS2Uncertain significance-1RCV000706394; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120311397120311397-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.26A>G (p.Lys9Arg)3158HMGCS2Uncertain significance144004292RCV000289757; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120311442120311442-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.-11C>T3158HMGCS2Benign/Likely benign2289459RCV000351672; RCV000609842; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA35701; MedGen:CN1693741120311478120311478-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.-36T>G3158HMGCS2Uncertain significance768747562RCV000401857; NMedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120311503120311503-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_006623.3(PHGDH):c.*200A>G-1HMGCS2;PHGDHLikely benign17258425RCV000309107; RCV000269827; NMedGen:C1866174,OMIM:601815; MedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120286863120286863-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.*332A>C-1HMGCS2;PHGDHLikely benign56828380RCV000366088; RCV000282093; NMedGen:C1866174,OMIM:601815; MedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120291138120291138-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
NM_005518.3(HMGCS2):c.*165C>T-1HMGCS2;PHGDHLikely benign138575225RCV000273781; RCV000318481; NMedGen:C1866174,OMIM:601815; MedGen:C2751532,OMIM:605911, Orphanet:ORPHA357011120291305120291305-C2751532 605911 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000134240 MSeqDR Search EnsemblHMGCS216373-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) [Source:HGNC Symbol;Acc:5008]00105

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