MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Child Nodes:
Sister Nodes:
..Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
..Mitochondrial cytopathy (C540770)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084) L: 00027;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184) L: 00527;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418) L: 00028;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471) L: 00029;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896) L: 00505;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156) L: 00506;
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..Mitochondrial Encephalomyopathies (D017237) 13 C:10
..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..Mitochondrial Myopathy with Diabetes (C564026)
..Mitochondrial myopathy with lactic acidosis (C537476) L: 00408;
..MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209) L: 00509;
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
..Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172;
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8096

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)

Definition:

Alternative IDs:

ParentIDs:

MESH:D017240

TreeNumbers:

C05.651.460/616896 |C10.668.491.500/616896 |C18.452.660.560/616896

Synonyms:

MTDPS14

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 616896
MeSH: 616896
OMIM: 616896;
MSeqDR : 00505;
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002104	Apnea
3	HP:0001623	Breech presentation
4	HP:0011410	Caesarian section
5	HP:0008872	Feeding difficulties in infancy
6	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
7	HP:0008936	Muscular hypotonia of the trunk
8	HP:0002179	Opisthotonus
9	HP:0012736	Profound global developmental delay
10	HP:0000546	Retinal degeneration
11	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
12	HP:0003202	Skeletal muscle atrophy
13	HP:0001612	Weak cry

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)	4976	OPA1	Benign	75414918	RCV000081767\|RCV000295836\|RCV000710167\|RCV001787895\|RCV001787894\|RCV001787893;	N	MedGen:CN169374\|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673\|MedGen:C3661900\|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896\|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239\|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250	3	193332522	193332522	3:g.193332522C>A	ClinGen:CA285728	CN169374 not specified;
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	4976	OPA1	Conflicting interpretations of pathogenicity	145565705	RCV000594159\|RCV001335766\|RCV001662637\|RCV002530950;	N	MedGen:C3661900\|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	3	193332564	193332564	3:g.193332564C>G	ClinGen:CA2758932	CN169374 not specified;
NM_130837.3(OPA1):c.321G>A (p.Ser107=)	4976	OPA1	Benign	117888848	RCV000081765\|RCV000337795\|RCV000712466\|RCV001787891\|RCV001787892\|RCV001787890;	N	MedGen:CN169374\|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673\|MedGen:C3661900\|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239\|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896\|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250	3	193332800	193332800	3:g.193332800G>A	ClinGen:CA148777	CN169374 not specified;
NM_130837.3(OPA1):c.1035+4T>C	4976	OPA1	Benign	166850	RCV000081773\|RCV000576690\|RCV000676694\|RCV001787898\|RCV001787896\|RCV001787897;	N	MedGen:CN169374\|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673\|MedGen:C3661900\|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896\|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250\|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239	3	193355074	193355074	3:g.193355074T>C	ClinGen:CA285744	C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1766T>G (p.Leu589Arg)	4976	OPA1	Pathogenic	869312995	RCV000210746;	N	MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896	3	193364865	193364865	3:g.193364865T>G	ClinGen:CA357235,OMIM:605290.0023	C4225163 616896 Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type);
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	4976	OPA1	Benign	9851685	RCV000081757\|RCV000576858\|RCV000676700\|RCV001787889\|RCV001787887\|RCV001787888;	N	MedGen:CN169374\|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673\|MedGen:C3661900\|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896\|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250\|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239	3	193374964	193374964	3:g.193374964T>C	ClinGen:CA285712	C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	4976	OPA1	Uncertain significance	762258708	RCV000498081\|RCV002481584\|RCV002524081;	N	MedGen:CN517202\|MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896; MONDO:MONDO:0008134,MedGen:C033	3	193376773	193376773	3:g.193376773G>A	ClinGen:CA2759643	CN169374 not specified;
NM_130837.3(OPA1):c.2552AGA[1] (p.Lys852del)	4976	OPA1	Uncertain significance	1218413866	RCV002250864;	N	MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896	3	193380642	193380644	193380641	-
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	4976	OPA1	Conflicting interpretations of pathogenicity	143252541	RCV000498253\|RCV002489224;	N	MedGen:CN517202\|MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896; MONDO:MONDO:0008134,MedGen:C033	3	193380707	193380707	3:g.193380707C>T	ClinGen:CA2759706	CN169374 not specified;
NM_130837.3(OPA1):c.4_5+2del	4976	OPA1	Likely pathogenic	754411271	RCV001542740;	N	MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896	3	193409919	193409922	193409918	-