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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Ataxia (D001259)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Muscle Weakness (D018908)
..Starting node
..expand
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_015697.7(COQ2):c.890A>G (p.Tyr297Cys)27235COQ2Pathogenic121918230RCV000001501; NMedGen:C1843920,OMIM:60742648419103584191035NM_015697.7:c.890A>GNP_056512.5:p.Tyr297CysNC_000004.11:g.84191035T>COMIM Allelic Variant:609825.0001C1843920 607426 Coenzyme Q10 deficiency, primary 1
NM_015697.7(COQ2):c.683A>G (p.Asn228Ser)27235COQ2Pathogenic121918232RCV000001504; NMedGen:C1843920,OMIM:60742648419465884194658NM_015697.7:c.683A>GNP_056512.5:p.Asn228SerNC_000004.11:g.84194658T>COMIM Allelic Variant:609825.0004C1843920 607426 Coenzyme Q10 deficiency, primary 1
NM_015697.7(COQ2):c.590G>A (p.Arg197His)27235COQ2Pathogenic121918231RCV000001503; NMedGen:C1843920,OMIM:60742648419475184194751NM_015697.7:c.590G>ANP_056512.5:p.Arg197HisNC_000004.11:g.84194751C>TOMIM Allelic Variant:609825.0003C1843920 607426 Coenzyme Q10 deficiency, primary 1
NM_015697.7(COQ2):c.437G>A (p.Ser146Asn)27235COQ2Pathogenic121918233RCV000001505; NMedGen:C1843920,OMIM:60742648420023484200234NM_015697.7:c.437G>ANP_056512.5:p.Ser146AsnNC_000004.11:g.84200234C>TOMIM Allelic Variant:609825.0005C1843920 607426 Coenzyme Q10 deficiency, primary 1
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000173085 MSeqDR Search EnsemblCOQ2144coenzyme Q2 4-hydroxybenzoate polyprenyltransferase [Source:HGNC Symbol;Acc:25223]00090

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