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 31 (OMIM:617228)

       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:2790
Name:COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
Definition:
Alternative IDs:
ParentIDs:MESH:D008661
TreeNumbers:C16.320.565/617228 |C18.452.648/617228
Synonyms:COXPD31
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 617228
MeSH: 617228
OMIM: 617228;
MSeqDR LSDB: 00522;  
Genes: CYP2A6; CYP2C9; F9; VKORC1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000518Cataract
NAMDC:  Cataracts
HP:0040283
4 HP:0001508Failure to thrive
5 HP:0011968Feeding difficulties
6 HP:0001290Generalized hypotonia
7 HP:0001263Global developmental delay
NAMDC:  Mental retardation
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0003348Hyperalaninemia
10 HP:0001276Hypertonia
11 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
12 HP:0002151Increased serum lactate
13 HP:0003128Lactic acidosis
14 HP:0030682Left ventricular noncompaction
15 HP:0000252MicrocephalyHP:0040283
16 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
Single allele4285MIPEPLikely pathogenic-1RCV000708593; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132437372024409414nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)4285MIPEPPathogenicrs114638163RCV000412565|RCV000608526; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169, Orphanet:54260; Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; 132438013324380133CA13:g.24380133C>AClinGen:CA16040610,OMIM:602241.0004C0878544 Cardiomyopathy;
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)4285MIPEPUncertain significancers1057518739RCV000412562|RCV000610224; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169, Orphanet:54260; Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; 132438019224380192AC13:g.24380192A>CClinGen:CA16040608,OMIM:602241.0001C0878544 Cardiomyopathy;
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)4285MIPEPUncertain significancers753252850RCV000714820; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132438403824384038CT13:g.24384038C>T-
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)4285MIPEPConflicting interpretations of pathogenicityrs139684349RCV000784974|RCV000896974; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|MedGen:CN517202132438404724384047AG13:g.24384047A>G-
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)4285MIPEPConflicting interpretations of pathogenicityrs779598020RCV000412519|RCV000605166; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0002449,Human Phenotype Ontology:HP:0002523,Human Phenotype Ontology:HP:0008947,Human Phenotype Ontology:HP:0010572,MedGen:C1860834; Human Phenotype Ontology:HP:0132441170024411700GC13:g.24411700G>CClinGen:CA6912972,OMIM:602241.0006C0878544 Cardiomyopathy;
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)4285MIPEPUncertain significancers1057518741RCV000412622|RCV000616524; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169, Orphanet:54260; Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; 132443646724436467TC13:g.24436467T>CClinGen:CA16040611,OMIM:602241.0005C0878544 Cardiomyopathy;
Single allele4285MIPEPPathogenic-1RCV000708564; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132443668224443638nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)4285MIPEPUncertain significancers143912947RCV000412517|RCV000602489|RCV001042479; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169, Orphanet:54260; Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; 132444345824443458GA13:g.24443458G>AClinGen:CA6913172,OMIM:602241.0003C0878544 Cardiomyopathy;
NM_005932.4(MIPEP):c.786+1G>C4285MIPEPLikely pathogenic-1RCV001267652; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132444415124444151CG13:g.24444151C>G-
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys)4285MIPEPUncertain significance-1RCV001198410; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132444433424444334GA13:g.24444334G>A-
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter)4285MIPEPLikely pathogenic-1RCV001195538; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132444904724449047GA13:g.24449047G>A-
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)4285MIPEPUncertain significancers768628283RCV000708563; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132445346124453461AC13:g.24453461A>C-C4310661 617228 Combined oxidative phosphorylation deficiency 31;
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)4285MIPEPLikely pathogenicrs780533096RCV000708592; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049132446047724460477CT13:g.24460477C>T-C4310661 617228 Combined oxidative phosphorylation deficiency 31;
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)4285MIPEPUncertain significancers1057518740RCV000412643|RCV000616145; NMONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228, Orphanet:478049|Human Phenotype Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169, Orphanet:54260; Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848; 132446062324460623AT13:g.24460623A>TClinGen:CA16040609,OMIM:602241.0002C0878544 Cardiomyopathy;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000027001 MSeqDR Search EnsemblMIPEP1014mitochondrial intermediate peptidase [Source:HGNC Symbol;Acc:7104]00522

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