MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Hepatic Encephalopathy (D006501)
Parent Node:
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Mitochondrial Diseases (D028361)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)

       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:7314
Name:MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Definition:
Alternative IDs:
ParentIDs:MESH:D006501|MESH:D028361
TreeNumbers:C06.552.308.500.356/251880 |C10.228.140.163.360/251880 |C18.452.132.360/251880 |C18.452.660/251880
Synonyms:MTDPS3
Slim Mappings:Digestive system disease|Metabolic disease|Nervous system disease
Reference: MedGen: 251880
MeSH: 251880
OMIM: 251880;
MSeqDR LSDB: 00031;  
Genes: DGUOK;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000549Abnormal conjugate eye movement
3 HP:0001541Ascites
4 HP:0002059Cerebral atrophy
5 HP:0008972Decreased activity of mitochondrial respiratory chain
6 HP:0006581Depletion of mitochondrial DNA in liver
7 HP:0002910Elevated hepatic transaminases
8 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
9 HP:0001508Failure to thrive
10 HP:0008872Feeding difficulties in infancy
11 HP:0002909Generalized aminoaciduria
12 HP:0001510Growth delay
NAMDC:  Growth delay
13 HP:0001399Hepatic failure
14 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
15 HP:0001404Hepatocellular necrosis
16 HP:0002240Hepatomegaly
17 HP:0002904Hyperbilirubinemia
18 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19 HP:0003073Hypoalbuminemia
20 HP:0001943Hypoglycemia
21 HP:0002045Hypothermia
22 HP:0000952Jaundice
23 HP:0003128Lactic acidosis
24 HP:0000252Microcephaly
25 HP:0001413Micronodular cirrhosis
26 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
27 HP:0000639Nystagmus
28 HP:0001405Periportal fibrosis
29 HP:0001271Polyneuropathy
30 HP:0001409Portal hypertension
31 HP:0001250Seizures
NAMDC:  Seizures
32 HP:0001744Splenomegaly
33 HP:0001873Thrombocytopenia
34 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_080916.2(DGUOK):c.4G>T (p.Ala2Ser)1716DGUOKUncertain significance147551003RCV000660620; RCV000173554; RCV000197326; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:CN517202; MedGen:CN16937427415404174154041-C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.142+1G>T1716DGUOKUncertain significance886056321RCV000325344; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427415418074154180-C0342782 Mitochondrial DNA depletion syndrome;
NM_080916.2(DGUOK):c.155C>T (p.Ser52Phe)1716DGUOKConflicting interpretations of pathogenicity1204316787RCV000578318; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427416604974166049-C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.211C>G (p.Pro71Ala)1716DGUOKUncertain significance184770596RCV000190772; RCV000779334; RCV000727394; RCV000482950; NMeSH:D030342,MedGen:C0950123; MedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:CN517202; MedGen:CN16937427416610574166105-C0950123 Inborn genetic diseases;
NM_080918.2(DGUOK):c.255del (p.Ala86Profs)1716DGUOKPathogenic886037613RCV000008631; RCV000726828; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:CN51720227416614974166149OMIM Allelic Variant:601465.0001
NM_080916.2(DGUOK):c.287T>C (p.Leu96Pro)1716DGUOKLikely pathogenic587780587RCV000122730; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427417387774173877-C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.313C>T (p.Arg105Ter)1716DGUOKPathogenic104893630RCV000008632; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427417390374173903OMIM Allelic Variant:601465.0002C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.425G>A (p.Arg142Lys)1716DGUOKPathogenic104893631RCV000008635; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427417401574174015OMIM Allelic Variant:601465.0005,UniProtKB (protein):Q16854#VAR_019417C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.1(DGUOK):c.591G>A (p.Gln197=)1716DGUOKPathogenic748597500RCV000763090; RCV000763090; RCV000763090; RCV000197640; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:C4310735,OMIM:617068, Orphanet:ORPHA494348; MedGen:C4310733,OMIM:617070, Orphanet:ORPHA329314; MedGen:CN51720227417785974177859-
NM_080916.1(DGUOK):c.605_606delGA (p.Arg202Thrfs)1716DGUOKPathogenic863223949RCV000601807; RCV000239539; RCV000239503; RCV000196566; NMedGen:CN924908, Orphanet:ORPHA279934; MedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:C4310733,OMIM:617070, Orphanet:ORPHA329314; MedGen:CN51720227418426574184266OMIM Allelic Variant:601465.0011
NM_080916.2(DGUOK):c.609_610del (p.Tyr204Profs)1716DGUOKPathogenic886037615RCV000008634; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427418426974184270OMIM Allelic Variant:601465.0004C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.679G>A (p.Glu227Lys)1716DGUOKPathogenic104893632RCV000008636; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427418433974184339OMIM Allelic Variant:601465.0006,UniProtKB (protein):Q16854#VAR_019418C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.749T>C (p.Leu250Ser)1716DGUOKPathogenic749464475RCV000578402; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427418531474185314-C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.1(DGUOK):c.763_766dupGATT (p.Phe256Terfs)1716DGUOKPathogenic763706988RCV000008633; RCV000485369; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:CN51720227418532874185331OMIM Allelic Variant:601465.0003
NM_080916.2(DGUOK):c.763G>T (p.Asp255Tyr)1716DGUOKPathogenic104893633RCV000008637; NMedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993427418532874185328OMIM Allelic Variant:601465.0007C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral;
NM_080916.2(DGUOK):c.*13A>T1716DGUOKBenign4777RCV000351874; RCV000611875; RCV000124678; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151513,OMIM:251880, Orphanet:ORPHA279934; MedGen:CN16937427418587674185876-C0342782 Mitochondrial DNA depletion syndrome;
NM_021830.4(TWNK):c.1370C>T (p.Thr457Ile)56652TWNKPathogenic80356544RCV000004889; RCV000020864; NMedGen:C1849096,OMIM:271245, Orphanet:ORPHA1186; MedGen:C3151513,OMIM:251880, Orphanet:ORPHA27993410102749527102749527OMIM Allelic Variant:606075.0011,UniProtKB (protein):Q96RR1#VAR_039045C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000107815 MSeqDR Search EnsemblC10orf2110chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]00031
ENSG00000114956 MSeqDR Search EnsemblDGUOK1516deoxyguanosine kinase [Source:HGNC Symbol;Acc:2858]00031

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