MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Metabolism, Inborn Errors (D008661)
..Starting node
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expand3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)  LSDB  L: 00467;
..expand3-Methylglutaconic Aciduria (C579867)
..expand3-Methylglutaconic Aciduria Type IV (C565393)
..expand3-Methylglutaconic Aciduria, Type I (C562801)  LSDB  L: 00495;
..expand3-Methylglutaconic Aciduria, Type V (C565706)  LSDB  L: 00079;
..expand5-Nucleotidase syndrome (C535321)
..expand6-Phosphogluconolactonase Deficiency (C566803)
..expandAcetylcarnitine deficiency (C536006)
..expandAcholinesterasemia (C566750)
..expandAcid Phosphatase Deficiency (C562645)
..expandAdenine phosphoribosyltransferase deficiency (C538228)
..expandalpha-Fetoprotein Deficiency (C566300)
..expandAmino Acid Metabolism, Inborn Errors (D000592) Child169  LSDB C:10
..expandAmino Acid Transport Disorders, Inborn (D020157) Child3
..expandAmobarbital, Deficient N-Hydroxylation of (C565959)
..expandAmyloidosis, Familial (D028226) Child13
..expandArene Oxide Detoxification Defect (C565043)
..expandAromatase deficiency (C537436)
..expandAryl Hydrocarbon Hydroxylase Inducibility (C566250)
..expandBISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..expandBrain Diseases, Metabolic, Inborn (D020739) Child218  LSDB C:20
..expandButyrylcholinesterase deficiency (C537417)
..expandButyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..expandCarbohydrate Metabolism, Inborn Errors (D002239) Child169  LSDB C:9
..expandCARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCarnitine palmitoyl transferase 2 deficiency (C535589)
..expandChromate Resistance (C566125)
..expandCombined Malonic and Methylmalonic Aciduria (C580002)
..expandCombined Oxidative Phosphorylation Deficiency 1 (C563797)  LSDB  L: 00092;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)  LSDB  L: 00093;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)  LSDB  L: 00423;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)  LSDB  L: 00511;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)  LSDB  L: 00512;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)  LSDB  L: 00094;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)  LSDB  L: 00095;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)  LSDB  L: 00080;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)  LSDB  L: 00513;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)  LSDB  L: 00514;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)  LSDB  L: 00500;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)  LSDB  L: 00515;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)  LSDB  L: 00501;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)  LSDB  L: 00502;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)  LSDB  L: 00516;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)  LSDB  L: 00517;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)  LSDB  L: 00503;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)  LSDB  L: 00518;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672)  LSDB  L: 00519;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)  LSDB  L: 00520;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)  LSDB  L: 00504;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)  LSDB  L: 00521;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)  LSDB  L: 00522;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)  LSDB  L: 00076;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)  LSDB  L: 00100;
..expandCongenital chloride diarrhea (C536210)
..expandCopper deficiency, familial benign (C535468)
..expandCosteff optic atrophy syndrome (C535311)  LSDB  L: 00496;
..expandCoumarin Resistance (C563039)
..expandCoumarin Sensitivity (C567276)
..expandCREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDeoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..expandDiarrhea 3, Secretory Sodium, Congenital (C562576)
..expandDiarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDihydropyrimidinase Deficiency (C562815)
..expandDiphenylhydantoin, Defect in Hydroxylation of (C565044)
..expandDrug Metabolism, Poor, CYP2C19-Related (C563703)
..expandDrug Metabolism, Poor, CYP2D6-Related (C563835)  LSDB  L: 00651;
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
..expandEnterokinase Deficiency (C562649)
..expandEthanolaminosis (C562651)
..expandFamilial gynecomastia, due to increased aromatase activity (C000591739)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFumaric aciduria (C538191)
..expandGlucocorticoid Receptor Deficiency (C564221)
..expandGlutamate formiminotransferase deficiency (C537425)
..expandGlycoprotein Storage Disease (C565538)
..expandGlyoxalase II Deficiency (C564215)
..expandGrowth Factors, Combined Defect of (C565529)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandHyperbilirubinemia, Hereditary (D006933) Child7
..expandHypercalcemia, Idiopathic, of Infancy (C562581)
..expandHYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..expandHypoadiponectinemia (C567258)
..expandHypokalemia, Familial (C562654)
..expandHypoproteinemia, Hypercatabolic (C565476)
..expandInosine Triphosphatase Deficiency (C564127)
..expandIntrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..expandKallikrein, Decreased Urinary Activity of (C563653)
..expandL-Gulonolactone Oxidase, Nonfunctional (C565486)
..expandLactate Dehydrogenase B Deficiency (C563641)
..expandLactic Aciduria due to D-Lactic Acid (C565446)
..expandLEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
..expandLEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
..expandLeukotriene C4 Synthase Deficiency (C565439)
..expandLipid Metabolism, Inborn Errors (D008052) Child135  LSDB C:9
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandLONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)  LSDB  L: 00474;
..expandLysosomal Storage Diseases (D016464) Child106
..expandMalonic aciduria (C535702)
..expandMannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..expandMannose-Binding Protein Deficiency (C563602)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMetal Metabolism, Inborn Errors (D008664) Child55
..expandMethemoglobin Reductase Deficiency (C563171)
..expandMethylcobalamin Deficiency, CblG Type (C565394)
..expandMethylmalonyl-Coenzyme A mutase deficiency (C537573)
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..expandMONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
..expandMyeloperoxidase Deficiency (C562864)
..expandN acetyltransferase deficiency (C536107)
..expandPancreatic Insufficiency, Combined Exocrine (C564907)
..expandPeroxisomal Disorders (D018901) Child39
..expandPhenacetin O-Deethylase, Deficiency of (C565127)
..expandPhenol sulfotransferase deficiency (C537895)
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandProgeria (D011371) Child11
..expandProguanil, Poor Metabolism of (C563704)
..expandPurine-Pyrimidine Metabolism, Inborn Errors (D011686) Child24
..expandRenal Tubular Transport, Inborn Errors (D015499) Child76  LSDB C:2
..expandRetinol-Binding Protein Deficiency (C566711)
..expandSteroid Metabolism, Inborn Errors (D043202) Child34
..expandStomatocytosis I (C566111)
..expandStomatocytosis II (C566110)
..expandSuccinic Acidemia (C563952)
..expandTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
..expandTHYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..expandTranscobalamin I Deficiency (C562798)
..expandTrimethylaminuria (C536561)
..expandTRYPSINOGEN DEFICIENCY (OMIM:614044)
..expandWarfarin Sensitivity (C567080)
..expandWeinstein Kliman Scully syndrome (C536688)
..expandWiedemann Oldigs Oppermann syndrome (C536705)
..expandXanthinuria, Type I (C562584)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2769
Name:COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
Definition:
Alternative IDs:DO:DOID:0060286
ParentIDs:MESH:D008661
TreeNumbers:C16.320.565/614924 |C18.452.648/614924
Synonyms:COXPD12 |LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE |LTBL
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 614924
MeSH: 614924
OMIM: 614924;
MSeqDR LSDB: 00511;  
Genes: EARS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001344Absent speech
4 HP:0002067Bradykinesia
5 HP:0001396CholestasisHP:0040283
6 HP:0000175Cleft palateHP:0040283
7 HP:0011923Decreased activity of mitochondrial complex I
8 HP:0011924Decreased activity of mitochondrial complex III
9 HP:0008347Decreased activity of mitochondrial complex IV
10 HP:0002376Developmental regression
11 HP:0006989Dysplastic corpus callosum
12 HP:0001332Dystonia
NAMDC:  Dystonia
13 HP:0001508Failure to thrive
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0002240HepatomegalyHP:0040283
17 HP:0002079Hypoplasia of the corpus callosum
18 HP:0002151Increased serum lactate
19 HP:0003128Lactic acidosis
20 HP:0002352Leukoencephalopathy
21 HP:0001403Macrovesicular hepatic steatosisHP:0040283
22 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
23 HP:0000602Ophthalmoplegia
24 HP:0000508Ptosis
NAMDC:  Ptosis
25 HP:0003200Ragged-red muscle fibers
26 HP:0001250Seizures
NAMDC:  Seizures
27 HP:0001285Spastic tetraparesis
28 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln)124454EARS2Pathogenic/Likely pathogenic201727231RCV000763375; RCV000254773; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202162353571723535717UniProtKB (protein):Q5JPH6#VAR_069247CN517202 not provided;
NM_001083614.1(EARS2):c.949G>T (p.Gly317Cys)124454EARS2Uncertain significance746838793RCV000286269; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162354621823546218UniProtKB (protein):Q5JPH6#VAR_069245CN201731 Combined oxidative phosphorylation deficiency;
NM_001083614.1(EARS2):c.790C>G (p.Leu264Val)124454EARS2Uncertain significance1555503379RCV000625893; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162354637723546377-C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.610G>A (p.Gly204Ser)124454EARS2Pathogenic397514592RCV000033012; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162354655723546557OMIM Allelic Variant:612799.0004,UniProtKB (protein):Q5JPH6#VAR_069243C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.502A>G (p.Arg168Gly)124454EARS2Pathogenic397514591RCV000033010; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162354666523546665OMIM Allelic Variant:612799.0002,UniProtKB (protein):Q5JPH6#VAR_069242C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.500G>A (p.Cys167Tyr)124454EARS2Pathogenic397514594RCV000033014; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162354666723546667OMIM Allelic Variant:612799.0006,UniProtKB (protein):Q5JPH6#VAR_069241C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.334G>C (p.Ala112Pro)124454EARS2not provided749048646RCV000509178; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162355598623555986-C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser)124454EARS2Pathogenic/Likely pathogenic201842633RCV000033011; RCV000624375; RCV000485250; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MeSH:D030342,MedGen:C0950123; MedGen:CN517202162355599223555992OMIM Allelic Variant:612799.0003,UniProtKB (protein):Q5JPH6#VAR_069240C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp)124454EARS2Conflicting interpretations of pathogenicity376103091RCV000626746; RCV000626746; RCV000033009; RCV000626746; RCV000626746; RCV000626746; RCV000622765; RCV000626746; RCV000626746; RCV000626746; RCV000626746; RCV000255688; NHuman Phenotype Ontology:HP:0001999,MedGen:C0424503; Human Phenotype Ontology:HP:0000377,MedGen:C0857379; MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; Human Phenotype Ontology:HP:0002069,MedGen:C0494475; Human Phenotype Ontology:HP:0001263,MedGen:C0557162355599823555998OMIM Allelic Variant:612799.0001,UniProtKB (protein):Q5JPH6#VAR_069239C0424503 Abnormal facial shape;
NM_001083614.1(EARS2):c.320G>A (p.Arg107His)124454EARS2Pathogenic/Likely pathogenic1021330566RCV000578413; RCV000522647; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202162355600023556000-C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.286G>A (p.Glu96Lys)124454EARS2Pathogenic397514593RCV000033013; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162356347923563479OMIM Allelic Variant:612799.0005,UniProtKB (protein):Q5JPH6#VAR_069237C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.193A>G (p.Lys65Glu)124454EARS2Pathogenic397514595RCV000033015; NMedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051162356357223563572OMIM Allelic Variant:612799.0007,UniProtKB (protein):Q5JPH6#VAR_069236C3554079 614924 Combined oxidative phosphorylation deficiency 12;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000103356 MSeqDR Search EnsemblEARS21012glutamyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:29419]00511

*Click on gene and variants to check details. Or view all variants in new page