Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diffuse Cerebral Sclerosis of Schilder (D002549)
Parent Node: Liver Cirrhosis (D008103)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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:

Slim Mappings:

Digestive system disease|Immune system disease|Metabolic disease|Nervous system disease

Reference:

MedGen: 203700
MeSH: 203700
OMIM: 203700;

Genes: POLG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003535	3-Methylglutaconic aciduria
4	HP:0000649	Abnormality of visual evoked potentials
5	HP:0002446	Astrocytosis
6	HP:0001251	Ataxia
7	HP:0001408	Bile duct proliferation
8	HP:0001272	Cerebellar atrophy
9	HP:0006964	Cerebral cortical neurodegeneration
10	HP:0100704	Cerebral visual impairment
11	HP:0000726	Dementia
12	HP:0002376	Developmental regression
13	HP:0002910	Elevated hepatic transaminase
14	HP:0012847	Epilepsia partialis continua
15	HP:0003219	Ethylmalonic aciduria
16	HP:0001508	Failure to thrive
17	HP:0001290	Generalized hypotonia
18	HP:0002171	Gliosis
19	HP:0001263	Global developmental delay
20	HP:0001399	Hepatic failure
21	HP:0002240	Hepatomegaly
22	HP:0001276	Hypertonia
23	HP:0001252	Hypotonia
24	HP:0002922	Increased CSF protein
25	HP:0002151	Increased serum lactate
26	HP:0001413	Micronodular cirrhosis
27	HP:0001414	Microvesicular hepatic steatosis
28	HP:0001336	Myoclonus
29	HP:0002529	Neuronal loss in central nervous system
30	HP:0003470	Paralysis
31	HP:0003678	Rapidly progressive
32	HP:0002133	Status epilepticus
33	HP:0000572	Visual loss
34	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)	5428	POLG	Pathogenic	267606959	RCV000014470; RCV000014471; RCV000188673;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C3150914,OMIM:613662; MedGen:CN221809	15	89862217	89862217	NM_002693.2:c.3218C>T	NP_002684.1:p.Pro1073Leu	NC_000015.9:g.89862217G>A	OMIM Allelic Variant:174763.0022	C3150914 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)	5428	POLG	Pathogenic	121918047	RCV000014453;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001	15	89864473	89864473	NM_002693.2:c.2617G>T	NP_002684.1:p.Glu873Ter	NC_000015.9:g.89864473C>A	OMIM Allelic Variant:174763.0008	C0205710 203700 Progressive sclerosing poliodystrophy
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser)	5428	POLG	Pathogenic	113994098	RCV000014450; RCV000014449; RCV000014451; RCV000014452; RCV000188580;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C1868097; MedGen:C3150914,OMIM:613662; MedGen:CN221809	15	89865023	89865023	NM_002693.2:c.2542G>A	NP_002684.1:p.Gly848Ser	NC_000015.9:g.89865023C>T	OMIM Allelic Variant:174763.0006	C1850303 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)	5428	POLG	Pathogenic;Uncertain significance	113994097	RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809	15	89866657	89866657	NM_002693.2:c.2243G>C	NP_002684.1:p.Trp748Ser	NC_000015.9:g.89866657C>G	HGMD:CM042764,OMIM Allelic Variant:174763.0013	C0007959 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)	5428	POLG	Pathogenic;Uncertain significance	113994097	RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809	15	89866657	89866657	NM_002693.2:c.2243G>C	NP_002684.1:p.Trp748Ser	NC_000015.9:g.89866657C>G	HGMD:CM042764,OMIM Allelic Variant:174763.0013	C0007959 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)	5428	POLG	Pathogenic	113994095	RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658;	N	MedGen: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:CN221809	15	89870432	89870432	NM_002693.2:c.1399G>A	NP_002684.1:p.Ala467Thr	NC_000015.9:g.89870432C>T	OMIM Allelic Variant:174763.0002	C1834846 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)	5428	POLG	Pathogenic;Uncertain significance	113994094	RCV000014447; RCV000184009; RCV000014448; RCV000020484; RCV000188641; RCV000194055;	N	MedGen: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:CN221809	15	89873415	89873415	NM_002693.2:c.752C>T	NP_002684.1:p.Thr251Ile	NC_000015.9:g.89873415G>A	OMIM Allelic Variant:174763.0007	C1850303 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