MSeqDR Mitochondrial disease browser phenotype pathogenic gene and muatation portal

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

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Mitochondrial complex I deficiency (C537475)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633) L: 00084;
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463) L: 00487;
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403) L: 00090;
..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Friedreich Ataxia (D005621) 6 C:1
..Hypermetabolism due to Defect in Mitochondria (C565498) L: 00406;
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leigh Disease (D007888) 12 C:3 L: 00015;
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475) L: 00011;
..Mitochondrial Complex II Deficiency (C565375) L: 00016;
..Mitochondrial Complex III Deficiency (C565128) L: 00017;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273) L: 00023;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880) L: 00031;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700) L: 00032;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810) L: 00035;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400) L: 00038;
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Mitochondrial Phosphate Carrier Deficiency (C563665) L: 00040;
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
..Multiple Mitochondrial Dysfunctions Syndrome (C565304) L: 00043;
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711) L: 00043;
..Myopathy with Giant Abnormal Mitochondria (C564971) L: 00409;
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1 C:1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) L: 00410;
..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890) L: 00046;
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049;
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453) L: 00412;
..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353) L: 00436;
..Wolfram Syndrome 2 (C565733) L: 00490;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7306

Name:

Mitochondrial complex I deficiency

Definition:

Alternative IDs:

OMIM:252010

ParentIDs:

MESH:D028361

TreeNumbers:

C18.452.660/C537475

Synonyms:

Mitochondrial NADH dehydrogenase component of complex I, deficiency of |Nadh-Coenzyme Q Reductase Deficiency |NADH coenzyme q reductase deficiency |NADH:Q(1) Oxidoreductase deficiency

Slim Mappings:

Metabolic disease

Reference:

MedGen: C537475
MeSH: C537475
OMIM: 252010;
MSeqDR : 00011;
Genes: FOXRED1; NDUFA1; NDUFA11; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFV1; NDUFV2; NUBPL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001423	X-linked dominant inheritance
3	HP:0001427	Mitochondrial inheritance
4	HP:0008316	Abnormal mitochondria in muscle tissue
5	HP:0006965	Acute necrotizing encephalopathy
6	HP:0001251	Ataxia
7	HP:0003487	Babinski sign
8	HP:0000618	Blindness
9	HP:0001272	Cerebellar atrophy
10	HP:0002181	Cerebral edema
11	HP:0001259	Coma
12	HP:0002376	Developmental regression
13	HP:0003546	Exercise intolerance NAMDC: Exercise intolerance
14	HP:0001508	Failure to thrive
15	HP:0008872	Feeding difficulties in infancy
16	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
17	HP:0001263	Global developmental delay NAMDC: Mental retardation
18	HP:0001510	Growth delay NAMDC: Growth delay
19	HP:0001399	Hepatic failure
20	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
21	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
22	HP:0001943	Hypoglycemia
23	HP:0001265	Hyporeflexia
24	HP:0002490	Increased CSF lactate
25	HP:0003128	Lactic acidosis
26	HP:0001254	Lethargy
27	HP:0002415	Leukodystrophy
28	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
29	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
30	HP:0000639	Nystagmus
31	HP:0000543	Optic disc pallor
32	HP:0003812	Phenotypic variability
33	HP:0004481	Progressive macrocephaly
34	HP:0000508	Ptosis NAMDC: Ptosis
35	HP:0002878	Respiratory failure
36	HP:0001250	Seizures NAMDC: Seizures
37	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
38	HP:0003202	Skeletal muscle atrophy
39	HP:0001257	Spasticity NAMDC: Spasticity
40	HP:0000486	Strabismus
41	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	OtherIDs	Disease_ClinVar
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)	2261	FGFR3	Pathogenic	121913479	RCV000443051; RCV000029208; RCV000017770; RCV000413645;	N	Human Phenotype Ontology:HP:0002862,MedGen:C0699885; Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900, Orphanet:ORPHA35125,SNOMED CT:25201003; MedGen:C1868678,OMIM:187600, Orphanet:ORPHA1860; MedGen:CN517202	4	1806089	1806089	OMIM Allelic Variant:134934.0033,UniProtKB (protein):P22607#VAR_004151	C0699885 Bladder carcinoma;
NM_017547.3(FOXRED1):c.754C>T (p.Arg252Cys)	55572	FOXRED1	Uncertain significance	146661281	RCV000763713; RCV000763713; RCV000514034;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	126145709	126145709	-	CN517202 not provided;
NM_017547.3(FOXRED1):c.1171T>G (p.Leu391Val)	55572	FOXRED1	Uncertain significance	138061928	RCV000763714; RCV000763714; RCV000199891;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	126147035	126147035	-	CN169374 not specified;
NM_175614.4(NDUFA11):c.311G>T (p.Arg104Leu)	126328	NDUFA11	Uncertain significance	199842745	RCV000267674; RCV000765475; RCV000197389;	N	MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN257533,OMIM:252010; MedGen:CN517202	19	5896466	5896466	-	C1838979 252010 Mitochondrial complex I deficiency;
NM_024120.4(NDUFAF5):c.178G>A (p.Ala60Thr)	79133	NDUFAF5	Uncertain significance	146837138	RCV000765487; RCV000197548;	N	MedGen:CN257533,OMIM:252010; MedGen:CN517202	20	13765892	13765892	-	CN517202 not provided;
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter)	54539	NDUFB11	Pathogenic	786205225	RCV000240620; RCV000763626; RCV000170490; RCV000763626; RCV000763626; RCV000346231;	N	MedGen:C1708371,OMIM:500000, Orphanet:ORPHA137675; MedGen:C0796070,OMIM:309801; MedGen:C4225421,OMIM:300952; MedGen:C4225421,OMIM:300952; MedGen:CN257533,OMIM:252010; MedGen:CN517202	X	47002089	47002089	OMIM Allelic Variant:300403.0001	C1708371 500000 Infantile histiocytoid cardiomyopathy;
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg)	4709	NDUFB3	Pathogenic/Likely pathogenic	142609245	RCV000624796; RCV000735413; RCV000504444; RCV000763470; RCV000239318;	N	MeSH:D030342,MedGen:C0950123; MedGen:CN257523,OMIM:618246; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN257533,OMIM:252010; MedGen:CN517202	2	201943669	201943669	OMIM Allelic Variant:603839.0001	C0950123 Inborn genetic diseases;
NM_005006.6(NDUFS1):c.845A>G (p.Asn282Ser)	4719	NDUFS1	Likely pathogenic	1485032272	RCV000768439;	N	MedGen:CN257533,OMIM:252010	2	207009643	207009643	-
NM_005006.6(NDUFS1):c.64C>T (p.Arg22Ter)	4719	NDUFS1	Pathogenic	750971390	RCV000768438;	N	MedGen:CN257533,OMIM:252010	2	207017232	207017232	-
NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=)	4720	NDUFS2	Uncertain significance	145959971	RCV000761488; RCV000199124;	N	MedGen:CN257533,OMIM:252010; MedGen:CN517202	1	161183265	161183265	-	CN169374 not specified;
NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter)	4724	NDUFS4	Pathogenic	104893899	RCV000007293;	N	MedGen:CN257533,OMIM:252010	5	52856536	52856536	OMIM Allelic Variant:602694.0004	C1838979 252010 Mitochondrial complex I deficiency;
NM_002495.3(NDUFS4):c.99-1G>A	4724	NDUFS4	Pathogenic	376281345	RCV000588112; RCV000007294;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010	5	52899281	52899281	OMIM Allelic Variant:602694.0005	C0023264 256000 Leigh syndrome;
NM_002495.2(NDUFS4):c.291delG (p.Trp97Terfs)	4724	NDUFS4	Pathogenic	121908985	RCV000007291; RCV000484109;	N	MedGen:CN257533,OMIM:252010; MedGen:CN517202	5	52942176	52942176	OMIM Allelic Variant:602694.0002
NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter)	4724	NDUFS4	Pathogenic	104893898	RCV000578296; RCV000735424;	N	MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN257533,OMIM:252010	5	52942201	52942201	OMIM Allelic Variant:602694.0003	C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs)	4724	NDUFS4	Pathogenic	587776949	RCV000586784; RCV000133549; RCV000197700;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	5	52978985	52978985	OMIM Allelic Variant:602694.0006	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.466_470dup (p.Lys158Serfs)	4724	NDUFS4	Pathogenic	-1	RCV000007290;	N	MedGen:CN257533,OMIM:252010	5	52978989	52978993	OMIM Allelic Variant:602694.0001	C1838979 252010 Mitochondrial complex I deficiency;
NM_007103.3(NDUFV1):c.454C>T (p.Arg152Cys)	4723	NDUFV1	Uncertain significance	151144350	RCV000765007; RCV000518994;	N	MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	67377050	67377050	-	CN169374 not specified;
NM_007103.3(NDUFV1):c.1162+4A>C	4723	NDUFV1	Pathogenic/Likely pathogenic	199683937	RCV000015104; RCV000763270; RCV000414504;	N	MedGen:CN257510,OMIM:618225; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	67379453	67379453	OMIM Allelic Variant:161015.0005	CN517202 not provided;
NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met)	4723	NDUFV1	Pathogenic/Likely pathogenic	121913659	RCV000735412; RCV000015100; RCV000763271; RCV000200093;	N	MedGen:CN257510,OMIM:618225; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	67379696	67379696	OMIM Allelic Variant:161015.0001,UniProtKB (protein):P49821#VAR_008847	C1838979 252010 Mitochondrial complex I deficiency;
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)	4893	NRAS	Pathogenic	397514553	RCV000032848; RCV000208568;	N	Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900, Orphanet:ORPHA35125,SNOMED CT:25201003; MedGen:C4551602,OMIM:163950	1	115258681	115258681	OMIM Allelic Variant:164790.0006,UniProtKB (protein):P01111#VAR_071130	C0334082 162900 Epidermal nevus;

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000110074	FOXRED1	1	1	2	FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]	00011
ENSG00000198888	MT-ND1	1	8	0	mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]	00011
ENSG00000198763	MT-ND2	1	2	0	mitochondrially encoded NADH dehydrogenase 2 [Source:HGNC Symbol;Acc:7456]	00011
ENSG00000198840	MT-ND3	1	2	0	mitochondrially encoded NADH dehydrogenase 3 [Source:HGNC Symbol;Acc:7458]	00011
ENSG00000198886	MT-ND4	1	2	0	mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]	00011
ENSG00000210135	MT-TN	1	1	0	mitochondrially encoded tRNA asparagine [Source:HGNC Symbol;Acc:7493]	00011
ENSG00000125356	NDUFA1	1	3	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Source:HGNC Symbol;Acc:7683]	00011
ENSG00000174886	NDUFA11	1	0	1	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa [Source:HGNC Symbol;Acc:20371]	00011
ENSG00000137806	NDUFAF1	1	3	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Source:HGNC Symbol;Acc:18828]	00011
ENSG00000164182	NDUFAF2	1	1	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]	00011
ENSG00000178057	NDUFAF3	1	3	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 [Source:HGNC Symbol;Acc:29918]	00011
ENSG00000123545	NDUFAF4	1	1	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 [Source:HGNC Symbol;Acc:21034]	00011
ENSG00000101247	NDUFAF5	1	2	1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 [Source:HGNC Symbol;Acc:15899]	00011
ENSG00000147123	NDUFB11	1	0	1	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Source:HGNC Symbol;Acc:20372]	00011
ENSG00000119013	NDUFB3	1	1	1	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa [Source:HGNC Symbol;Acc:7698]	00011
ENSG00000147684	NDUFB9	1	0	0	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa [Source:HGNC Symbol;Acc:7704]	00011
ENSG00000023228	NDUFS1	1	8	2	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7707]	00011
ENSG00000158864	NDUFS2	1	3	1	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7708]	00011
ENSG00000213619	NDUFS3	1	1	0	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]	00011
ENSG00000164258	NDUFS4	1	2	6	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]	00011
ENSG00000145494	NDUFS6	1	1	0	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7713]	00011
ENSG00000110717	NDUFS8	1	2	0	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]	00011
ENSG00000167792	NDUFV1	1	3	3	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [Source:HGNC Symbol;Acc:7716]	00011
ENSG00000178127	NDUFV2	1	0	0	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Source:HGNC Symbol;Acc:7717]	00011
ENSG00000151413	NUBPL	1	3	0	nucleotide binding protein-like [Source:HGNC Symbol;Acc:20278]	00011
ENSG00000113845	TIMMDC1	1	0	0	translocase of inner mitochondrial membrane domain containing 1 [Source:HGNC Symbol;Acc:1321]	00011
ENSG00000171204	TMEM126B	1	0	0	transmembrane protein 126B [Source:HGNC Symbol;Acc:30883]	00011

*Click on gene and variants to check details. Or view all variants in new page

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