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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Hepatic Encephalopathy (D006501)
Parent Node:
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Metabolism, Inborn Errors (D008661)
..Starting node
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Combined Oxidative Phosphorylation Deficiency 1 (C563797)

       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)
..expandAICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..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
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCarnitine palmitoyl transferase 2 deficiency (C535589)
..expandChromate Resistance (C566125)
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
..expandCombined Malonic and Methylmalonic Aciduria (C580002)
..expandCombined Oxidative Phosphorylation Deficiency 1 (C563797)  LSDB  L: 00092;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..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)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..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)
..expandLeukotriene C4 Synthase Deficiency (C565439)
..expandLipid Metabolism, Inborn Errors (D008052) Child135  LSDB C:9
..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)
..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)
..expandPorphyrias (D011164) Child18
..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)
..expandTHYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..expandTranscobalamin I Deficiency (C562798)
..expandTrimethylaminuria (C536561)
..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:2527
Name:Combined Oxidative Phosphorylation Deficiency 1
Definition:
Alternative IDs:OMIM:609060
ParentIDs:MESH:D006501|MESH:D008661
TreeNumbers:C06.552.308.500.356/C563797 |C10.228.140.163.360/C563797 |C16.320.565/C563797 |C18.452.132.360/C563797 |C18.452.648/C563797
Synonyms:COXPD1 |Hepatoencephalopathy, Early Fatal Progressive
Slim Mappings:Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C563797
MeSH: C563797
OMIM: 609060;
MSeqDR LSDB: 00092;  
Genes: GFM1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0006799Basal ganglia cysts
4 HP:0001396Cholestasis
5 HP:0012448Delayed myelination
6 HP:0011968Feeding difficulties
7 HP:0004448Fulminant hepatic failure
8 HP:0002283Global brain atrophy
9 HP:0002240Hepatomegaly
10 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11 HP:0002375Hypokinesia
12 HP:0002079Hypoplasia of the corpus callosum
13 HP:0002490Increased CSF lactate
14 HP:0002151Increased serum lactate
15 HP:0001511Intrauterine growth retardation
16 HP:0001942Metabolic acidosis
17 HP:0000252Microcephaly
18 HP:0001270Motor delay
19 HP:0008936Muscular hypotonia of the trunk
20 HP:0000639Nystagmus
21 HP:0000817Poor eye contact
22 HP:0001250Seizures
NAMDC:  Seizures
23 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)85476GFM1Pathogenic119470019RCV000004378; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA1376813158363475158363475OMIM Allelic Variant:606639.0002C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_001308164.1(GFM1):c.395A>C (p.Glu132Ala)85476GFM1Likely pathogenic1553847587RCV000625929; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA1376813158364559158364559-C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.5(GFM1):c.521A>G (p.Asn174Ser)85476GFM1Likely pathogenic119470018RCV000004377; RCV000657878; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA137681; MedGen:CN5172023158364685158364685OMIM Allelic Variant:606639.0001,UniProtKB (protein):Q96RP9#VAR_021512C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.5(GFM1):c.622G>A (p.Glu208Lys)85476GFM1Uncertain significance191462023RCV000273469; RCV000764473; RCV000198516; NMedGen:CN228601, Orphanet:ORPHA2443; MedGen:C1836797,OMIM:609060, Orphanet:ORPHA137681; MedGen:CN5172023158366879158366879-CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)85476GFM1Pathogenic139430866RCV000023564; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA1376813158369943158369943OMIM Allelic Variant:606639.0004,UniProtKB (protein):Q96RP9#VAR_076198C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.5(GFM1):c.1487T>G (p.Met496Arg)85476GFM1Pathogenic119470020RCV000004379; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA1376813158383232158383232OMIM Allelic Variant:606639.0003,UniProtKB (protein):Q96RP9#VAR_031901C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys)85476GFM1Pathogenic/Likely pathogenic201408725RCV000763507; RCV000197077; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA137681; MedGen:CN5172023158408053158408053-CN517202 not provided;
NM_020191.3(MRPS22):c.508C>T (p.Arg170Cys)56945MRPS22Uncertain significance-1RCV000714744; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA1376813139069024139069024-
NM_024678.5(NARS2):c.1306C>G (p.Arg436Gly)79731NARS2Pathogenic751383065RCV000626109; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA137681117814784478147844-C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_001243251.1(NARS2):c.-541+350del79731NARS2Pathogenic1555047651RCV000626110; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA137681117828552478285524NC_000011.9:g.78285524delC-C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_001167734.1(VARS2):c.3188C>T (p.Ser1063Phe)57176VARS2Uncertain significance-1RCV000714819; NMedGen:C1836797,OMIM:609060, Orphanet:ORPHA13768163089389330893893-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000168827 MSeqDR Search EnsemblGFM1147G elongation factor, mitochondrial 1 [Source:HGNC Symbol;Acc:13780]00092

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