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: Hepatic Encephalopathy (D006501)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
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:

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;

Genes: DGUOK;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000549	Abnormal conjugate eye movement
3	HP:0001541	Ascites
4	HP:0002059	Cerebral atrophy
5	HP:0008972	Decreased activity of mitochondrial respiratory chain
6	HP:0006581	Depletion of mitochondrial DNA in liver
7	HP:0002910	Elevated hepatic transaminase
8	HP:0001298	Encephalopathy
9	HP:0001508	Failure to thrive
10	HP:0008872	Feeding difficulties in infancy
11	HP:0002909	Generalized aminoaciduria
12	HP:0001290	Generalized hypotonia
13	HP:0001510	Growth delay
14	HP:0001399	Hepatic failure
15	HP:0001397	Hepatic steatosis
16	HP:0001404	Hepatocellular necrosis
17	HP:0002240	Hepatomegaly
18	HP:0002904	Hyperbilirubinemia
19	HP:0001347	Hyperreflexia
20	HP:0003073	Hypoalbuminemia
21	HP:0001943	Hypoglycemia
22	HP:0002045	Hypothermia
23	HP:0001252	Hypotonia
24	HP:0000952	Jaundice
25	HP:0003128	Lactic acidosis
26	HP:0000252	Microcephaly
27	HP:0001413	Micronodular cirrhosis
28	HP:0000639	Nystagmus
29	HP:0001405	Periportal fibrosis
30	HP:0001271	Polyneuropathy
31	HP:0001409	Portal hypertension
32	HP:0001250	Seizure
33	HP:0001744	Splenomegaly
34	HP:0001873	Thrombocytopenia
35	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_080916.2(DGUOK):c.763G>T (p.Asp255Tyr)	-1	-	Pathogenic	104893633	RCV000008637;	N	MedGen:C3151513,OMIM:251880,ORPHA:279934	2	74185328	74185328	NM_080916.2:c.763G>T	NP_550438.1:p.Asp255Tyr	NC_000002.11:g.74185328G>T	OMIM Allelic Variant:601465.0007	C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_021830.4(C10orf2):c.1370C>T (p.Thr457Ile)	56652	C10orf2	Pathogenic	80356544	RCV000020864; RCV000004889;	N	MedGen:C1849096,OMIM:271245,ORPHA:1186; MedGen:C3151513,OMIM:251880,ORPHA:279934	10	102749527	102749527	NM_021830.4:c.1370C>T	NP_068602.2:p.Thr457Ile	NC_000010.10:g.102749527C>T	OMIM Allelic Variant:606075.0011	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_080916.2(DGUOK):c.287T>C (p.Leu96Pro)	1716	DGUOK	Likely pathogenic	587780587	RCV000122730;	N	MedGen:C3151513,OMIM:251880,ORPHA:279934	2	74173877	74173877	NM_080916.2:c.287T>C	NP_550438.1:p.Leu96Pro	NC_000002.11:g.74173877T>C	-	C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_080916.2(DGUOK):c.313C>T (p.Arg105Ter)	1716	DGUOK	Pathogenic	104893630	RCV000008632;	N	MedGen:C3151513,OMIM:251880,ORPHA:279934	2	74173903	74173903	NM_080916.2:c.313C>T	NP_550438.1:p.Arg105Ter	NC_000002.11:g.74173903C>T	OMIM Allelic Variant:601465.0002	C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_080916.2(DGUOK):c.425G>A (p.Arg142Lys)	1716	DGUOK	Pathogenic	104893631	RCV000008635;	N	MedGen:C3151513,OMIM:251880,ORPHA:279934	2	74174015	74174015	NM_080916.2:c.425G>A	NP_550438.1:p.Arg142Lys	NC_000002.11:g.74174015G>A	OMIM Allelic Variant:601465.0005	C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
NM_080916.2(DGUOK):c.679G>A (p.Glu227Lys)	1716	DGUOK	Pathogenic	104893632	RCV000008636;	N	MedGen:C3151513,OMIM:251880,ORPHA:279934	2	74184339	74184339	NM_080916.2:c.679G>A	NP_550438.1:p.Glu227Lys	NC_000002.11:g.74184339G>A	OMIM Allelic Variant:601465.0006	C3151513 251880 Mitochondrial DNA-depletion syndrome 3, hepatocerebral