MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Diffuse Cerebral Sclerosis of Schilder (D002549)
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Liver Cirrhosis (D008103)
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Mitochondrial Diseases (D028361)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)

       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:7315
Name:MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Definition:
Alternative IDs:
ParentIDs:MESH:D002549|MESH:D008103|MESH:D028361
TreeNumbers:C06.552.630/203700 |C10.114.375.112/203700 |C10.228.140.400/203700 |C10.228.140.695.562.112/203700 |C10.314.350.112/203700 |C18.452.660/203700 |C20.111.258.250.175/203700
Synonyms:ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |ALPERS-HUTTENLOCHER SYNDROME |ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY |ALPERS SYNDROME |MTDPS4A |NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE |PNDC
Slim Mappings:Digestive system disease|Immune system disease|Metabolic disease|Nervous system disease
Reference: MedGen: 203700
MeSH: 203700
OMIM: 203700;
MSeqDR LSDB: 00032;  
Genes: POLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:00035353-Methylglutaconic aciduria
4 HP:0100022Abnormality of movementtypical
5 HP:0000478Abnormality of the eye
NAMDC:  Ophthalmologic
typical
6 HP:0000649Abnormality of visual evoked potentials
7 HP:0002446Astrocytosis
8 HP:0001251Ataxia
9 HP:0001408Bile duct proliferation
10 HP:0001272Cerebellar atrophy
11 HP:0006964Cerebral cortical neurodegeneration
12 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
typical
13 HP:0100704Cortical visual impairment
14 HP:0000726Dementia
NAMDC:  Dementia
15 HP:0002376Developmental regression
16 HP:0002910Elevated hepatic transaminases
17 HP:0012847Epilepsia partialis continua
18 HP:0003219Ethylmalonic aciduria
19 HP:0001508Failure to thrive
20 HP:0002171Gliosis
21 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
22 HP:0001263Global developmental delay
NAMDC:  Mental retardation
23 HP:0004374Hemiplegia/hemiparesistypical
24 HP:0001399Hepatic failure
25 HP:0002240Hepatomegaly
26 HP:0001276Hypertoniatypical
27 HP:0001276Hypertonia
28 HP:0002311Incoordinationtypical
29 HP:0002922Increased CSF protein
30 HP:0002151Increased serum lactate
31 HP:0000252Microcephalytypical
32 HP:0001413Micronodular cirrhosis
33 HP:0001414Microvesicular hepatic steatosis
34 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
typical
35 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
36 HP:0001336Myoclonus
NAMDC:  Myoclonus
37 HP:0002529Neuronal loss in central nervous system
38 HP:0003470Paralysis
39 HP:0003678Rapidly progressive
40 HP:0001250Seizures
NAMDC:  Seizures
typical
41 HP:0000572Visual loss
42 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)5428POLGPathogenic267606959RCV000014470; RCV000014471; RCV000188673; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C3150914,OMIM:613662; MedGen:CN221809158986221789862217NM_002693.2:c.3218C>TNP_002684.1:p.Pro1073LeuNC_000015.9:g.89862217G>AOMIM Allelic Variant:174763.0022C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; CN221809 not provided; C0205710 203700 Progressive sclerosing poliodystrophy
NM_002693.2(POLG):c.2617G>T (p.Glu873Ter)5428POLGPathogenic121918047RCV000014453; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001158986447389864473NM_002693.2:c.2617G>TNP_002684.1:p.Glu873TerNC_000015.9:g.89864473C>AOMIM Allelic Variant:174763.0008C0205710 203700 Progressive sclerosing poliodystrophy
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser)5428POLGPathogenic113994098RCV000014450; RCV000014449; RCV000014451; RCV000014452; RCV000188580; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C1868097; MedGen:C3150914,OMIM:613662; MedGen:CN221809158986502389865023NM_002693.2:c.2542G>ANP_002684.1:p.Gly848SerNC_000015.9:g.89865023C>TOMIM Allelic Variant:174763.0006C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; CN221809 not provided; C0205710 203700 Progressive sclerosing poliodystrophy
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)5428POLGPathogenic;Uncertain significance113994097RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809158986665789866657NM_002693.2:c.2243G>CNP_002684.1:p.Trp748SerNC_000015.9:g.89866657C>GHGMD:CM042764,OMIM Allelic Variant:174763.0013C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)5428POLGPathogenic;Uncertain significance113994097RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809158986665789866657NM_002693.2:c.2243G>CNP_002684.1:p.Trp748SerNC_000015.9:g.89866657C>GHGMD:CM042764,OMIM Allelic Variant:174763.0013C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; CN169374 not specified; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, an
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenic113994095RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1834846,OMIM:157640; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809158987043289870432NM_002693.2:c.1399G>ANP_002684.1:p.Ala467ThrNC_000015.9:g.89870432C>TOMIM Allelic Variant:174763.0002C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221
NM_002693.2(POLG):c.752C>T (p.Thr251Ile)5428POLGPathogenic;Uncertain significance113994094RCV000014447; RCV000184009; RCV000014448; RCV000020484; RCV000188641; RCV000194055; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C0872218,OMIM:603041; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C3150914,OMIM:613662; MedGen:CN169374; MedGen:CN221809158987341589873415NM_002693.2:c.752C>TNP_002684.1:p.Thr251IleNC_000015.9:g.89873415G>AOMIM Allelic Variant:174763.0007C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; C0872218 603041 Myoneural gastrointestinal encephalopathy syndrome; CN221809 not provided; CN1693
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140521 MSeqDR Search EnsemblPOLG156polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00032

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