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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Ataxia (D001259)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Muscle Weakness (D018908)
..Starting node
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Coenzyme Q10 Deficiency (C564403)

       Child Nodes:



 Sister Nodes: 
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandCamera Marugo Cohen syndrome (C537964)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
..expandEpisodic Muscle Weakness, X-Linked (C564565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2459
Name:Coenzyme Q10 Deficiency
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D018908|MESH:D028361
TreeNumbers:C05.651.515/C564403 |C10.597.350.090/C564403 |C10.597.613.593/C564403 |C18.452.660/C564403 |C23.550.695/C564403 |C23.888.592.350.090/C564403 |C23.888.592.608.593/C564403
Synonyms:Coenzyme Q Deficiency |Coq10 Deficiency, Primary |CoQ Deficiency |Ubiquinone Deficiency
Slim Mappings:Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C564403
MeSH: C564403
OMIM: 607426;
MSeqDR LSDB: 00090;  
Genes: COQ2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003674Onset
3 HP:0001903Anemia
4 HP:0001251Ataxia
5 HP:0001272Cerebellar atrophy
6 HP:0001260Dysarthria
NAMDC:  Dysarthria
7 HP:0003236Elevated serum creatine phosphokinase
8 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
9 HP:0000096Glomerulosclerosis
10 HP:0001399Hepatic failure
11 HP:0000815Hypergonadotropic hypogonadism
12 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
13 HP:0001249Intellectual disability
14 HP:0003128Lactic acidosis
15 HP:0001270Motor delay
16 HP:0000100Nephrotic syndrome
NAMDC:  Nephrotic syndrome
17 HP:0000639Nystagmus
18 HP:0001876Pancytopenia
19 HP:0003812Phenotypic variability
20 HP:0002172Postural instability
21 HP:0003323Progressive muscle weakness
22 HP:0003200Ragged-red muscle fibers
23 HP:0003652Recurrent myoglobinuria
24 HP:0000510Rod-cone dystrophy
25 HP:0002168Scanning speech
26 HP:0001250Seizures
NAMDC:  Seizures
27 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
28 HP:0001328Specific learning disability
29 HP:0000572Visual loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001195248.1(APTX):c.38+2T>G54840APTXUncertain significance-1RCV000721992; NMedGen:C3551954,OMIM:60742693300156333001563-
NM_015697.8(COQ2):c.1220_1222del (p.Lys407del)27235COQ2Uncertain significance-1RCV000721993; NMedGen:C3551954,OMIM:60742648418539684185398-
NM_015697.7(COQ2):c.1197delT (p.Asn401IlefsTer15)27235COQ2Pathogenic750710187RCV000416389; RCV000001502; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:60742648418542184185421OMIM Allelic Variant:609825.0002CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.990C>T (p.Ser330=)27235COQ2Benign/Likely benign1129617RCV000385321; RCV000603582; RCV000676765; RCV000116809; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:607426; MedGen:CN517202; MedGen:CN16937448418885084188850-CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.894T>C (p.Asp298=)27235COQ2Benign6535454RCV000350741; RCV000606206; RCV000676766; RCV000116808; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:607426; MedGen:CN517202; MedGen:CN16937448419103184191031-CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys)27235COQ2Pathogenic121918230RCV000416386; RCV000001501; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:60742648419103584191035NC_000004.11:g.84191035T>COMIM Allelic Variant:609825.0001CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.854C>G (p.Pro285Arg)27235COQ2Likely pathogenic1161445886RCV000625563; NMedGen:C3551954,OMIM:60742648419107184191071-C1843920 607426 Coenzyme Q10 deficiency, primary 1;
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser)27235COQ2Pathogenic121918232RCV000416407; RCV000001504; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:60742648419465884194658NC_000004.11:g.84194658T>COMIM Allelic Variant:609825.0004CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.590G>A (p.Arg197His)27235COQ2Pathogenic/Likely pathogenic121918231RCV000416395; RCV000001503; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:60742648419475184194751NC_000004.11:g.84194751C>TOMIM Allelic Variant:609825.0003CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.437G>A (p.Ser146Asn)27235COQ2Pathogenic121918233RCV000416406; RCV000001505; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:60742648420023484200234NC_000004.11:g.84200234C>TOMIM Allelic Variant:609825.0005CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.196G>T (p.Val66Leu)27235COQ2Benign6818847RCV000297119; RCV000613316; RCV000676768; RCV000116807; NMedGen:CN229570, Orphanet:ORPHA35656; MedGen:C3551954,OMIM:607426; MedGen:CN517202; MedGen:CN16937448420587284205872-CN229570 Coenzyme Q10 deficiency, primary;
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter)27235COQ2Conflicting interpretations of pathogenicity112033303RCV000721994; RCV000676770; RCV000124539; NMedGen:C3551954,OMIM:607426; MedGen:CN517202; MedGen:CN16937448420600484206004-
NM_015697.8(COQ2):c.16C>A (p.Gln6Lys)27235COQ2Uncertain significance752575160RCV000656337; NMedGen:C3551954,OMIM:60742648420605284206052NC_000004.11:g.84206052G>T-C1843920 607426 Coenzyme Q10 deficiency, primary 1;
NM_020247.4(COQ8A):c.1939C>T (p.Gln647Ter)56997COQ8AUncertain significance-1RCV000721989; NMedGen:C3551954,OMIM:6074261227174433227174433-
NM_020247.4(COQ8A):c.1942T>G (p.Ter648Glu)56997COQ8AUncertain significance-1RCV000721990; NMedGen:C3551954,OMIM:6074261227174436227174436-
NM_020247.4(COQ8A):c.*72dup56997COQ8ALikely pathogenic-1RCV000721972; NMedGen:C3551954,OMIM:6074261227174510227174510-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000173085 MSeqDR Search EnsemblCOQ21412coenzyme Q2 4-hydroxybenzoate polyprenyltransferase [Source:HGNC Symbol;Acc:25223]00090

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