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 24 (OMIM:616239)

       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:2782
Name:COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
Definition:
Alternative IDs:DO:DOID:0060286
ParentIDs:MESH:D008661
TreeNumbers:C16.320.565/616239 |C18.452.648/616239
Synonyms:COXPD24
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 616239
MeSH: 616239
OMIM: 616239;
MSeqDR LSDB: 00517;  
Genes: H6PD; NARS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001274Agenesis of corpus callosum
3 HP:0100704Cortical visual impairment
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
HP:0040283
5 HP:0003236Elevated serum creatine phosphokinase
6 HP:0010628Facial palsy
7 HP:0011968Feeding difficulties
8 HP:0000097Focal segmental glomerulosclerosis
NAMDC:  Focal segmental glomerulosclerosis
9 HP:0001290Generalized hypotonia
10 HP:0002171Gliosis
11 HP:0002151Increased serum lactate
12 HP:0001256Intellectual disability, mildHP:0040283
13 HP:0000252Microcephaly
14 HP:0003198Myopathy
NAMDC:  Myopathy
15 HP:0002180Neurodegeneration
16 HP:0002529Neuronal loss in central nervous system
17 HP:0000639Nystagmus
18 HP:0000648Optic atrophy
19 HP:0003812Phenotypic variability
20 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
21 HP:0000508Ptosis
NAMDC:  Ptosis
22 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
23 HP:0003202Skeletal muscle atrophy
24 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)79731NARS2Uncertain significancers1399346230RCV001225311; NMONDO:MONDO:0032749,MedGen:C5193096,OMIM:618434; MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117814778978147789TC11:g.78147789T>C-
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)79731NARS2Likely pathogenicrs535877562RCV000988619; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117815471678154716CT11:g.78154716C>T-
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)79731NARS2Pathogenicrs763770414RCV000779618; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117815478578154785AC11:g.78154785A>COMIM:612803.0010
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)79731NARS2Likely pathogenicrs1565216037RCV000779612; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117817694478176944TC11:g.78176944T>COMIM:612803.0004
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)79731NARS2Likely pathogenicrs565224393RCV000779611; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117818035078180350AT11:g.78180350A>TOMIM:612803.0003
NM_024678.6(NARS2):c.822G>C (p.Gln274His)79731NARS2Pathogenicrs730882154RCV000162034; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117820410978204109CG11:g.78204109C>GClinGen:CA214554,OMIM:612803.0001
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys)79731NARS2Pathogenicrs1565235204RCV000779617; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117820422478204224AC11:g.78204224A>COMIM:612803.0008
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu)79731NARS2Pathogenicrs730882155RCV000162035; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117823993678239936GA11:g.78239936G>AClinGen:CA186000,UniProtKB:Q96I59#VAR_073250,OMIM:612803.0002
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)79731NARS2Likely pathogenicrs755122704RCV000481783|RCV000779616; NMedGen:CN517202|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117823994678239946AT11:g.78239946A>TClinGen:CA6205769,OMIM:612803.0007
NM_024678.6(NARS2):c.595-6T>G79731NARS2not providedrs774848576RCV000509099; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117823998878239988AC11:g.78239988A>CClinGen:CA6205780C4015643 616239 Combined oxidative phosphorylation deficiency 24;
NM_024678.6(NARS2):c.594+1G>A79731NARS2Pathogenicrs1035101172RCV000779613; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117827058478270584CT11:g.78270584C>TOMIM:612803.0009
NM_024678.6(NARS2):c.500A>G (p.His167Arg)79731NARS2Conflicting interpretations of pathogenicityrs750594551RCV000779620; NMONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117827719178277191TC11:g.78277191T>COMIM:612803.0012
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)79731NARS2Benignrs10501429RCV000444244|RCV000988620; NMedGen:CN169374|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117827979078279790TG11:g.78279790T>GClinGen:CA6205892CN169374 not specified;
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)79731NARS2Likely pathogenicrs201751992RCV000481204|RCV000779615; NMedGen:CN517202|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117828246478282464TC11:g.78282464T>CClinGen:CA6205927,OMIM:612803.0006
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)79731NARS2Uncertain significancers367584549RCV000656263|RCV000779619; NMedGen:CN517202|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239, Orphanet:444458117828248078282480GA11:g.78282480G>AClinGen:CA6205933,OMIM:612803.0011
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000137513 MSeqDR Search EnsemblNARS21015asparaginyl-tRNA synthetase 2, mitochondrial (putative) [Source:HGNC Symbol;Acc:26274]00517

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