MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Mitochondrial Diseases (D028361)
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Mitochondrial complex I deficiency (C537475)

       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:7306
Name:Mitochondrial complex I deficiency
Definition:
Alternative IDs:OMIM:252010
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C537475
Synonyms:Mitochondrial NADH dehydrogenase component of complex I, deficiency of |Nadh-Coenzyme Q Reductase Deficiency |NADH coenzyme q reductase deficiency |NADH:Q(1) Oxidoreductase deficiency
Slim Mappings:Metabolic disease
Reference: MedGen: C537475
MeSH: C537475
OMIM: 252010;
MSeqDR LSDB: 00011;  
Genes: FOXRED1; NDUFA1; NDUFA11; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFV1; NDUFV2; NUBPL;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001423X-linked dominant inheritance
3 HP:0001427Mitochondrial inheritance
4 HP:0008316Abnormal mitochondria in muscle tissue
5 HP:0006965Acute necrotizing encephalopathy
6 HP:0001251Ataxia
7 HP:0003487Babinski sign
8 HP:0000618Blindness
9 HP:0001272Cerebellar atrophy
10 HP:0002181Cerebral edema
11 HP:0001259Coma
12 HP:0002376Developmental regression
13 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
14 HP:0001508Failure to thrive
15 HP:0008872Feeding difficulties in infancy
16 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
17 HP:0001263Global developmental delay
NAMDC:  Mental retardation
18 HP:0001510Growth delay
NAMDC:  Growth delay
19 HP:0001399Hepatic failure
20 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
21 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
22 HP:0001943Hypoglycemia
23 HP:0001265Hyporeflexia
24 HP:0002490Increased CSF lactate
25 HP:0003128Lactic acidosis
26 HP:0001254Lethargy
27 HP:0002415Leukodystrophy
28 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
29 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
30 HP:0000639Nystagmus
31 HP:0000543Optic disc pallor
32 HP:0003812Phenotypic variability
33 HP:0004481Progressive macrocephaly
34 HP:0000508Ptosis
NAMDC:  Ptosis
35 HP:0002878Respiratory failure
36 HP:0001250Seizures
NAMDC:  Seizures
37 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
38 HP:0003202Skeletal muscle atrophy
39 HP:0001257Spasticity
NAMDC:  Spasticity
40 HP:0000486Strabismus
41 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)2261FGFR3Pathogenic121913479RCV000443051; RCV000029208; RCV000017770; RCV000413645; NHuman Phenotype Ontology:HP:0002862,MedGen:C0699885; Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900, Orphanet:ORPHA35125,SNOMED CT:25201003; MedGen:C1868678,OMIM:187600, Orphanet:ORPHA1860; MedGen:CN517202418060891806089OMIM Allelic Variant:134934.0033,UniProtKB (protein):P22607#VAR_004151C0699885 Bladder carcinoma;
NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter)4724NDUFS4Pathogenic104893899RCV000007293; NMedGen:CN257533,OMIM:25201055285653652856536OMIM Allelic Variant:602694.0004C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.3(NDUFS4):c.99-1G>A4724NDUFS4Pathogenic376281345RCV000588112; RCV000007294; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:25201055289928152899281OMIM Allelic Variant:602694.0005C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.291delG (p.Trp97Terfs)4724NDUFS4Pathogenic121908985RCV000007291; RCV000484109; NMedGen:CN257533,OMIM:252010; MedGen:CN51720255294217652942176OMIM Allelic Variant:602694.0002C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter)4724NDUFS4Pathogenic104893898RCV000578296; RCV000735424; NMedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN257533,OMIM:25201055294220152942201OMIM Allelic Variant:602694.0003C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs)4724NDUFS4Pathogenic587776949RCV000586784; RCV000133549; RCV000197700; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN51720255297898552978985OMIM Allelic Variant:602694.0006C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.466_470dup (p.Lys158Serfs)4724NDUFS4Pathogenic-1RCV000007290; NMedGen:CN257533,OMIM:25201055297898952978993OMIM Allelic Variant:602694.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)4893NRASPathogenic397514553RCV000032848; RCV000208568; NHuman Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900, Orphanet:ORPHA35125,SNOMED CT:25201003; MedGen:C4551602,OMIM:1639501115258681115258681OMIM Allelic Variant:164790.0006,UniProtKB (protein):P01111#VAR_071130C0334082 162900 Epidermal nevus;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000110074 MSeqDR Search EnsemblFOXRED1110FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]00011
ENSG00000198888 MSeqDR Search EnsemblMT-ND1180mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]00011
ENSG00000198763 MSeqDR Search EnsemblMT-ND2120mitochondrially encoded NADH dehydrogenase 2 [Source:HGNC Symbol;Acc:7456]00011
ENSG00000198840 MSeqDR Search EnsemblMT-ND3120mitochondrially encoded NADH dehydrogenase 3 [Source:HGNC Symbol;Acc:7458]00011
ENSG00000198886 MSeqDR Search EnsemblMT-ND4120mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]00011
ENSG00000210135 MSeqDR Search EnsemblMT-TN110mitochondrially encoded tRNA asparagine [Source:HGNC Symbol;Acc:7493]00011
ENSG00000125356 MSeqDR Search EnsemblNDUFA1130NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Source:HGNC Symbol;Acc:7683]00011
ENSG00000174886 MSeqDR Search EnsemblNDUFA11100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa [Source:HGNC Symbol;Acc:20371]00011
ENSG00000137806 MSeqDR Search EnsemblNDUFAF1130NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Source:HGNC Symbol;Acc:18828]00011
ENSG00000164182 MSeqDR Search EnsemblNDUFAF2110NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]00011
ENSG00000178057 MSeqDR Search EnsemblNDUFAF3130NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 [Source:HGNC Symbol;Acc:29918]00011
ENSG00000123545 MSeqDR Search EnsemblNDUFAF4110NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 [Source:HGNC Symbol;Acc:21034]00011
ENSG00000101247 MSeqDR Search EnsemblNDUFAF5120NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 [Source:HGNC Symbol;Acc:15899]00011
ENSG00000147123 MSeqDR Search EnsemblNDUFB11100NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Source:HGNC Symbol;Acc:20372]00011
ENSG00000119013 MSeqDR Search EnsemblNDUFB3110NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa [Source:HGNC Symbol;Acc:7698]00011
ENSG00000147684 MSeqDR Search EnsemblNDUFB9100NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa [Source:HGNC Symbol;Acc:7704]00011
ENSG00000023228 MSeqDR Search EnsemblNDUFS1180NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7707]00011
ENSG00000158864 MSeqDR Search EnsemblNDUFS2130NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7708]00011
ENSG00000213619 MSeqDR Search EnsemblNDUFS3110NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]00011
ENSG00000164258 MSeqDR Search EnsemblNDUFS4126NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]00011
ENSG00000145494 MSeqDR Search EnsemblNDUFS6110NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7713]00011
ENSG00000110717 MSeqDR Search EnsemblNDUFS8120NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]00011
ENSG00000167792 MSeqDR Search EnsemblNDUFV1130NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [Source:HGNC Symbol;Acc:7716]00011
ENSG00000178127 MSeqDR Search EnsemblNDUFV2100NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Source:HGNC Symbol;Acc:7717]00011
ENSG00000151413 MSeqDR Search EnsemblNUBPL130nucleotide binding protein-like [Source:HGNC Symbol;Acc:20278]00011
ENSG00000113845 MSeqDR Search EnsemblTIMMDC1100translocase of inner mitochondrial membrane domain containing 1 [Source:HGNC Symbol;Acc:1321]00011
ENSG00000171204 MSeqDR Search EnsemblTMEM126B100transmembrane protein 126B [Source:HGNC Symbol;Acc:30883]00011

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