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)
..Starting node
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Mitochondrial Complex III Deficiency (C565128)

       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:7308
Name:Mitochondrial Complex III Deficiency
Definition:
Alternative IDs:OMIM:124000
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C565128
Synonyms:MC3DN1 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Slim Mappings:Metabolic disease
Reference: MedGen: C565128
MeSH: C565128
OMIM: 124000;
MSeqDR LSDB: 00017;  
Genes: BCS1L;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003593Infantile onset
4 HP:0004298Abnormality of the abdominal wall
5 HP:0003256Abnormality of the coagulation cascade
6 HP:0003355Aminoaciduria
7 HP:0001251Ataxia
8 HP:0002299Brittle hair
9 HP:0000518Cataract
NAMDC:  Cataracts
10 HP:0001272Cerebellar atrophy
11 HP:0002059Cerebral atrophy
12 HP:0030151Cholangitis
13 HP:0001396Cholestasis
14 HP:0001410Decreased liver function
15 HP:0006558Decreased mitochondrial complex III activity in liver tissue
16 HP:0000716Depression
NAMDC:  Depression
17 HP:0002353EEG abnormality
18 HP:0002910Elevated hepatic transaminases
19 HP:0000712Emotional lability
20 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
21 HP:0001508Failure to thrive
22 HP:0008872Feeding difficulties in infancy
23 HP:0001263Global developmental delay
NAMDC:  Mental retardation
24 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
25 HP:0000738Hallucinations
26 HP:0000365Hearing impairmentrare
27 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
28 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
29 HP:0001943Hypoglycemia
30 HP:0002151Increased serum lactate
31 HP:0001249Intellectual disability
32 HP:0003128Lactic acidosis
33 HP:0001942Metabolic acidosis
34 HP:0001414Microvesicular hepatic steatosis
35 HP:0006789Mitochondrial encephalopathy
36 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
37 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
38 HP:0003200Ragged-red muscle fibers
39 HP:0003201Rhabdomyolysis
NAMDC:  Rhabdomyolysis
40 HP:0000510Rod-cone dystrophy
41 HP:0001250Seizures
NAMDC:  Seizures
42 HP:0001257Spasticity
NAMDC:  Spasticity
43 HP:0001970Tubulointerstitial nephritis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004328.4(BCS1L):c.133C>T (p.Arg45Cys)617BCS1LPathogenic121908575RCV000006543; NMedGen:C1852372,OMIM:1240002219525843219525843NM_004328.4:c.133C>TNP_004319.1:p.Arg45CysNC_000002.11:g.219525843C>TOMIM Allelic Variant:603647.0006C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.148A>G (p.Thr50Ala)617BCS1LPathogenic121908580RCV000006549; NMedGen:C1852372,OMIM:1240002219525858219525858NM_004328.4:c.148A>GNP_004319.1:p.Thr50AlaNC_000002.11:g.219525858A>GOMIM Allelic Variant:603647.0011C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)617BCS1LPathogenic121908576RCV000006544; RCV000195481; NMedGen:C1852372,OMIM:124000; MedGen:CN2218092219525876219525876NM_004328.4:c.166C>TNP_004319.1:p.Arg56TerNC_000002.11:g.219525876C>TOMIM Allelic Variant:603647.0007C1852372 124000 Mitochondrial complex III deficiency; CN221809 not provided
NM_004328.4(BCS1L):c.464G>C (p.Arg155Pro)617BCS1LPathogenic121908573RCV000006540; NMedGen:C1852372,OMIM:1240002219526485219526485NM_004328.4:c.464G>CNP_004319.1:p.Arg155ProNC_000002.11:g.219526485G>COMIM Allelic Variant:603647.0003C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys)617BCS1LLikely pathogenic;Pathogenic144885874RCV000006550; NMedGen:C1852372,OMIM:1240002219526568219526568NM_004328.4:c.547C>TNP_004319.1:p.Arg183CysNC_000002.11:g.219526568C>TOMIM Allelic Variant:603647.0012C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys)617BCS1LPathogenic121908578RCV000034811; RCV000006546; NMedGen:C1852372,OMIM:124000; MedGen:C40168512219526571219526571NM_004328.4:c.550C>TNP_004319.1:p.Arg184CysNC_000002.11:g.219526571C>TOMIM Allelic Variant:603647.0009C4016851 Bjornstad syndrome with mild mitochondrial complex III deficiency; C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)617BCS1LPathogenic121908571RCV000006538; NMedGen:C1852372,OMIM:1240002219527343219527343NM_004328.4:c.830G>ANP_004319.1:p.Ser277AsnNC_000002.11:g.219527343G>AOMIM Allelic Variant:603647.0001C1852372 124000 Mitochondrial complex III deficiency
NM_004328.4(BCS1L):c.1057G>A (p.Val353Met)617BCS1LPathogenic121908574RCV000006541; NMedGen:C1852372,OMIM:1240002219527906219527906NM_004328.4:c.1057G>ANP_004319.1:p.Val353MetNC_000002.11:g.219527906G>AOMIM Allelic Variant:603647.0004C1852372 124000 Mitochondrial complex III deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L188BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00017
ENSG00000156467 MSeqDR Search EnsemblUQCRB100ubiquinol-cytochrome c reductase binding protein [Source:HGNC Symbol;Acc:12582]00017

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