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: Kidney Diseases (D007674)
Parent Node: Mitochondrial Encephalomyopathies (D017237)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Child Nodes:
Sister Nodes:
..Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784)
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
..Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency (C567528)
..MELAS Syndrome (D017241) 1
..MERRF Syndrome (D017243)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..Mitochondrial encephalopathy (C538525)
..Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7320

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)

Definition:

Alternative IDs:

ParentIDs:

MESH:D007674|MESH:D017237

TreeNumbers:

C05.651.460.620/612075 |C10.228.140.163.540/612075 |C10.668.491.500.500/612075 |C12.777.419/612075 |C13.351.968.419/612075 |C18.452.132.540/612075 |C18.452.660.560.620/612075

Synonyms:

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED |MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED |MNGI

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 612075
MeSH: 612075
OMIM: 612075;

Genes: RRM2B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003355	Aminoaciduria
3	HP:0004326	Cachexia
4	HP:0000544	External ophthalmoplegia
5	HP:0001508	Failure to thrive
6	HP:0011968	Feeding difficulties
7	HP:0002066	Gait ataxia
8	HP:0001290	Generalized hypotonia
9	HP:0001249	Intellectual disability
10	HP:0003128	Lactic acidosis
11	HP:0003676	Progressive
12	HP:0002344	Progressive neurologic deterioration
13	HP:0000114	Proximal tubulopathy
14	HP:0001250	Seizure

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_015713.4(RRM2B):c.850C>T (p.Gln284Ter)	50484	RRM2B	Pathogenic	121918307	RCV000005717; RCV000119010;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235; MedGen:CN187502	8	103225057	103225057	NM_015713.4:c.850C>T	NP_056528.2:p.Gln284Ter	NC_000008.10:g.103225057G>A	OMIM Allelic Variant:604712.0001	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; CN187502 RRM2B-related mitochondrial disease
NM_015713.4(RRM2B):c.707G>T (p.Cys236Phe)	50484	RRM2B	Pathogenic	121918309	RCV000005721; RCV000119007;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235; MedGen:CN187502	8	103226364	103226364	NM_015713.4:c.707G>T	NP_056528.2:p.Cys236Phe	NC_000008.10:g.103226364C>A	OMIM Allelic Variant:604712.0005	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; CN187502 RRM2B-related mitochondrial disease
NM_015713.4(RRM2B):c.686G>T (p.Gly229Val)	50484	RRM2B	Pathogenic	121918311	RCV000005723; RCV000119005;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235; MedGen:CN187502	8	103226385	103226385	NM_015713.4:c.686G>T	NP_056528.2:p.Gly229Val	NC_000008.10:g.103226385C>A	OMIM Allelic Variant:604712.0007	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; CN187502 RRM2B-related mitochondrial disease
NM_015713.4(RRM2B):c.635_636insAAG (p.Gly212_Leu213insSer)	50484	RRM2B	Likely pathogenic	863224914	RCV000198969;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235	8	103231090	103231091	NM_015713.4:c.635_636insAAG	NP_056528.2:p.Gly212_Leu213insSer	NC_000008.10:g.103231090_103231091insCTT	-	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
NM_015713.4(RRM2B):c.580G>A (p.Glu194Lys)	50484	RRM2B	Pathogenic	121918308	RCV000005719; RCV000118999;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235; MedGen:CN187502	8	103231146	103231146	NM_015713.4:c.580G>A	NP_056528.2:p.Glu194Lys	NC_000008.10:g.103231146C>T	OMIM Allelic Variant:604712.0003	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; CN187502 RRM2B-related mitochondrial disease
NM_015713.4(RRM2B):c.322-2A>G	50484	RRM2B	Pathogenic	515726185	RCV000005718; RCV000118990;	N	MedGen:C2749861,OMIM:612075,ORPHA:255235; MedGen:CN187502	8	103237248	103237248	NM_015713.4:c.322-2A>G		8:g.103237248T>C	OMIM Allelic Variant:604712.0002	C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; CN187502 RRM2B-related mitochondrial disease