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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: childhood electroclinical syndrome (MONDO:0000414)
Parent Node: early myoclonic encephalopathy (MONDO:0016022)
Parent Node: mitochondrial disease with dilated cardiomyopathy (MONDO:0016335)
Parent Node: mitochondrial disease with epilepsy (MONDO:0016402)
Parent Node: mitochondrial disease with eye involvement (MONDO:0020265)
Parent Node: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
Parent Node: mitochondrial disease with peripheral neuropathy (MONDO:0016403)
Parent Node: mitochondrial encephalomyopathy (MONDO:0004675)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
Parent Node: neurometabolic disease (MONDO:0019058)
Parent Node: progressive myoclonic epilepsy (MONDO:0020074)
..Starting node ..MERRF syndrome ()
Child Nodes:
Sister Nodes:
..action myoclonus-renal failure syndrome ()
..adult neuronal ceroid lipofuscinosis ()
..early-onset Lafora body disease ()
..epilepsy, progressive myoclonic, 1B ()
..familial encephalopathy with neuroserpin inclusion bodies ()
..infantile neuronal ceroid lipofuscinosis ()
..juvenile neuronal ceroid lipofuscinosis ()
..Lafora disease ()
..late infantile neuronal ceroid lipofuscinosis ()
..MERRF syndrome () L: 00162;
..progressive myoclonic epilepsy type 3 ()
..progressive myoclonic epilepsy type 5 ()
..progressive myoclonic epilepsy type 6 ()
..progressive myoclonic epilepsy type 7 ()
..progressive myoclonic epilepsy type 8 ()
..progressive myoclonic epilepsy type 9 ()
..Unverricht-Lundborg syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10790

Name:

MERRF syndrome

Definition:

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.

Alternative IDs:

545000

ParentIDs:

TreeNumbers:

Synonyms:

Fukuhara syndrome; MERRF; MERRF syndrome; myoclonic epilepsy - ragged red fibers; myoclonic epilepsy associated with ragged red fibers; myoclonic epilepsy associated with ragged-RED fibers; myoclonic epilepsy associated with ragged-RED fibers; MERRF; myoclonic epilepsy with ragged red fibers; myoclo

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 545000;
MSeqDR : 00162;
Genes:

Phenotypes

1	HP:0001427	Mitochondrial inheritance
2	HP:0001251	Ataxia
3	HP:0002123	Generalized myoclonic seizures
4	HP:0002151	Increased serum lactate
5	HP:0003542	Increased serum pyruvate
6	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
7	HP:0001336	Myoclonus NAMDC: Myoclonus
8	HP:0003198	Myopathy NAMDC: Myopathy
9	HP:0003200	Ragged-red muscle fibers
10	HP:0001250	Seizures NAMDC: Seizures
11	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
12	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
m.13042G>A	4540	MT-ND5	Likely pathogenic	rs267606898	RCV000010347\|RCV000010348\|RCV000010349\|RCV000854885\|RCV002260592;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MedGen:C1838951\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:53	M	13042	13042	M:g.13042G>A	ClinGen:CA120633,OMIM:516005.0008	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.611G>A	4558	MT-TF	Pathogenic	rs118203886	RCV000010187;	N	MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	611	611	m.611G>A	ClinGen:CA340924,OMIM:590070.0002	C0162672 545000 Myoclonus with epilepsy with ragged red fibers;
NC_012920.1(MT-CYB):m.4296G>A	4565	MT-TI	Pathogenic/Likely pathogenic	rs1603219393	RCV000850719\|RCV002249542;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	4296	4296	M:g.4296G>A	-
m.4284G>A	4565	MT-TI	Conflicting interpretations of pathogenicity	rs121434468	RCV000010227\|RCV000850716\|RCV001838978\|RCV002247292;	N	MedGen:C0559758\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	4284	4284	M:g.4284G>A	ClinGen:CA120571,OMIM:590045.0004	C0559758 Multisystem disorder;
m.8344A>G	4566	MT-TK	Pathogenic	rs118192098	RCV000010193\|RCV000010192\|RCV000010194\|RCV000224965\|RCV000495310\|RCV000850950\|RCV001729345;	Y	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500\|MedGen:CN517202\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380\|MONDO:MONDO:0010	M	8344	8344	M:g.8344A>G	ClinGen:CA254836,OMIM:590060.0001	C0023264 256000 Leigh syndrome;
m.8356T>C	4566	MT-TK	Pathogenic	rs118192099	RCV000010196\|RCV000010195\|RCV000850957;	Y	MedGen:C3151970\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8356	8356	M:g.8356T>C	ClinGen:CA120554,OMIM:590060.0002	C3151970 MERRF/MELAS overlap syndrome;
m.8361G>A	4566	MT-TK	Pathogenic	rs118192104	RCV000010202;	Y	MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	8361	8361	m.8361G>A	ClinGen:CA340925,OMIM:590060.0007	C0162672 545000 Myoclonus with epilepsy with ragged red fibers;
m.8363G>A	4566	MT-TK	Pathogenic	rs118192100	RCV000010197\|RCV000144004\|RCV000192053\|RCV000850961;	Y	MedGen:C4016620\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8363	8363	M:g.8363G>A	ClinGen:CA120555,OMIM:590060.0003	C4016620 Cardiomyopathy and Deafness;
m.3256C>T	4567	MT-TL1	Pathogenic	rs199474659	RCV000010213\|RCV000010214\|RCV000850697;	Y	MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MedGen:C4017627\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3256	3256	M:g.3256C>T	ClinGen:CA120561,OMIM:590050.0003	C4017627 Diabetes mellitus, noninsulin-dependent, maternally transmitted;
m.3271T>C	4567	MT-TL1	Pathogenic	rs199474658	RCV000010212\|RCV000507161\|RCV000763624;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550; MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	3271	3271	M:g.3271T>C	ClinGen:CA254839,OMIM:590050.0002	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3274A>G	4567	MT-TL1	Conflicting interpretations of pathogenicity	rs199474666	RCV000010221\|RCV000850703\|RCV002288480;	N	MedGen:C4016618\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	3274	3274	M:g.3274A>G	ClinGen:CA120568,OMIM:590050.0010	C4016618 Neuropsychiatric disorder and early-onset cataract;
NC_012920.1(MT-CYB):m.16002T>C	4571	MT-TP	Pathogenic/Likely pathogenic	rs1603225633	RCV000851169\|RCV002249545;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	16002	16002	M:g.16002T>C	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000198786	MT-ND5	1	1	1	mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]	00162
ENSG00000210049	MT-TF	1	1	1	mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]	00162
ENSG00000210176	MT-TH	1	0	0	mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487]	00162
ENSG00000210156	MT-TK	1	4	4	mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]	00162
ENSG00000209082	MT-TL1	1	1	3	mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]	00162
ENSG00000210151	MT-TS1	1	0	0	mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497]	00162
ENSG00000210184	MT-TS2	1	0	0	mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498]	00162

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