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: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node ..Leigh Disease (D007888)
Child Nodes:
........CoQ-responsive OXPHOS deficiency (C535470)
........Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)
........Leigh syndrome , French Canadian type (C537004) L: 00389;
........Leigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021)
........Leigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961)
........Leigh Syndrome due to Mitochondrial Complex III Deficiency (C564962)
........Leigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963)
........Leigh Syndrome due to Mitochondrial Complex V Deficiency (C564964)
........Leigh Syndrome, X-Linked (C564114) L: 00390;
........Maternally Inherited Leigh Syndrome (C536035)
........Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530) L: 00433;
........Necrotizing encephalopathy, infantile subacute, of Leigh (C538590)
Sister Nodes:
..Leigh Disease (D007888) 12 C:3 L: 00015;
..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..Pyruvate Kinase Deficiency of Red Cells (C564858)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6278

Name:

Leigh Disease

Definition:

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Alternative IDs:

OMIM:256000

ParentIDs:

MESH:D015323|MESH:D020739|MESH:D028361

TreeNumbers:

C10.228.140.163.100.412 |C16.320.565.189.412 |C16.320.565.202.810.444 |C18.452.132.100.412 |C18.452.648.189.412 |C18.452.648.202.810.444 |C18.452.660.520

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D007888
MeSH: D007888
OMIM: 256000;
MSeqDR : 00015;
MSeqDR has 3 matches in descendants: 00389; 00390; 00433;
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001427	Mitochondrial inheritance
3	HP:0003593	Infantile onset
4	HP:0002793	Abnormal pattern of respiration
5	HP:0100022	Abnormality of movement	hallmark
6	HP:0001251	Ataxia
7	HP:0007305	CNS demyelination
8	HP:0100543	Cognitive impairment NAMDC: Cognitive delay	hallmark
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0001332	Dystonia NAMDC: Dystonia
11	HP:0000712	Emotional lability
12	HP:0001508	Failure to thrive
13	HP:0002171	Gliosis
14	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
15	HP:0001263	Global developmental delay NAMDC: Mental retardation
16	HP:0001404	Hepatocellular necrosis
17	HP:0001425	Heterogeneous
18	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19	HP:0000998	Hypertrichosis
20	HP:0002311	Incoordination	hallmark
21	HP:0002490	Increased CSF lactate
22	HP:0002151	Increased serum lactate
23	HP:0001249	Intellectual disability
24	HP:0003128	Lactic acidosis
25	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
26	HP:0001252	Muscular hypotonia NAMDC: Hypotonia	hallmark
27	HP:0000639	Nystagmus
28	HP:0000639	Nystagmus	hallmark
29	HP:0000597	Ophthalmoparesis NAMDC: Ophthalmoparesis	typical
30	HP:0000602	Ophthalmoplegia
31	HP:0000648	Optic atrophy
32	HP:0000648	Optic atrophy	typical
33	HP:0003812	Phenotypic variability
34	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
35	HP:0003676	Progressive
36	HP:0000508	Ptosis NAMDC: Ptosis
37	HP:0002878	Respiratory failure
38	HP:0002093	Respiratory insufficiency	hallmark
39	HP:0001250	Seizures NAMDC: Seizures
40	HP:0001250	Seizures NAMDC: Seizures	typical
41	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
42	HP:0001257	Spasticity NAMDC: Spasticity
43	HP:0000486	Strabismus	hallmark
44	HP:0000486	Strabismus

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_004092.3(ECHS1):c.5C>T (p.Ala2Val)	1892	ECHS1	Likely pathogenic;Pathogenic	587776498	RCV000144497; RCV000167582;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN228784,OMIM:616277	10	135186833	135186833	NM_004092.3:c.5C>T	NP_004083.3:p.Ala2Val	NC_000010.10:g.135186833G>A	OMIM Allelic Variant:602292.0004	C0023264 256000 Leigh syndrome; CN228784 616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
NM_004092.3(ECHS1):c.2T>G (p.Met1Arg)	1892	ECHS1	Likely pathogenic;Pathogenic	587776497	RCV000144496; RCV000167581;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN228784,OMIM:616277	10	135186836	135186836	NM_004092.3:c.2T>G	NP_004083.3:p.Met1Arg	NC_000010.10:g.135186836A>C	OMIM Allelic Variant:602292.0003	C0023264 256000 Leigh syndrome; CN228784 616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
NM_018060.3(IARS2):c.1821G>A (p.Trp607Ter)	55699	IARS2	Pathogenic;Uncertain significance	373436822	RCV000144716; RCV000144955;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN221809	1	220300169	220300169	NM_018060.3:c.1821G>A	NP_060530.3:p.Trp607Ter	NC_000001.10:g.220300169G>A	OMIM Allelic Variant:612801.0002	C0023264 256000 Leigh syndrome; CN221809 not provided
NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys)	55699	IARS2	Pathogenic;Uncertain significance	143722284	RCV000144717; RCV000144956;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN221809	1	220311332	220311332	NM_018060.3:c.2122G>A	NP_060530.3:p.Glu708Lys	NC_000001.10:g.220311332G>A	OMIM Allelic Variant:612801.0003	C0023264 256000 Leigh syndrome; CN221809 not provided
NC_012920.1:m.8839G>C	4508	MT-ATP6	Pathogenic	369202065	RCV000144024;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	8839	8839	-	-	NC_012920.1:m.8839G>C	-	C0023264 256000 Leigh syndrome
m.8851T>C	4508	MT-ATP6	Pathogenic	199476136	RCV000144005; RCV000010280;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003	M	8851	8851	-	-	NC_012920.1:m.8851T>C	OMIM Allelic Variant:516060.0006	C0023264 256000 Leigh syndrome; C1839022 500003 Striatonigral degeneration, infantile, mitochondrial
NC_012920.1:m.8989G>C	4508	MT-ATP6	Pathogenic	587776444	RCV000144025;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	8989	8989	-	-	NC_012920.1:m.8989G>C	-	C0023264 256000 Leigh syndrome
m.8993T>G	4508	MT-ATP6	Pathogenic	199476133	RCV000010273; RCV000010274; RCV000191106;	Y	Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ontology:HP:0007050,Human Phenotype Ontology:HP:0007157,MedGen:CN001146; MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C18	M	8993	8993	-	-	NC_012920.1:m.8993T>G	OMIM Allelic Variant:516060.0001	CN001146 Ataxia; C0023264 256000 Leigh syndrome
m.8993T>C	4508	MT-ATP6	Pathogenic	199476133	RCV000010275; RCV000010276;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838916	M	8993	8993	-	-	NC_012920.1:m.8993T>C	OMIM Allelic Variant:516060.0002	C1838916 Ataxia and polyneuropathy, adult-onset; C0023264 256000 Leigh syndrome
m.9176T>C	4508	MT-ATP6	Pathogenic	199476135	RCV000010279; RCV000010278;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003	M	9176	9176	-	-	NC_012920.1:m.9176T>C	OMIM Allelic Variant:516060.0005	C0023264 256000 Leigh syndrome; C1839022 500003 Striatonigral degeneration, infantile, mitochondrial
m.9176T>G	4508	MT-ATP6	Pathogenic	199476135	RCV000010285;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	9176	9176	-	-	NC_012920.1:m.9176T>G	OMIM Allelic Variant:516060.0011	C0023264 256000 Leigh syndrome
m.9185T>C	4508	MT-ATP6	Pathogenic	199476138	RCV000010282;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	9185	9185	-	-	NC_012920.1:m.9185T>C	OMIM Allelic Variant:516060.0008	C0023264 256000 Leigh syndrome
m.9191T>C	4508	MT-ATP6	Pathogenic	386829069	RCV000144006;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	9191	9191	-	-	NC_012920.1:m.9191T>C	-	C0023264 256000 Leigh syndrome
NC_012920.1:m.9478T>C	4514	MT-CO3	Pathogenic	587776437	RCV000144007;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	9478	9478	-	-	NC_012920.1:m.9478T>C	-	C0023264 256000 Leigh syndrome
m.9537dupC	4514	MT-CO3	Pathogenic	267606614	RCV000010292; RCV000144008;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	9537	9537	-	-	NC_012920.1:m.9537dupC	OMIM Allelic Variant:516050.0005	C0268237 220110 Cytochrome-c oxidase deficiency; C0023264 256000 Leigh syndrome
m.3460G>A	4535	MT-ND1	Pathogenic	199476118	RCV000010371; RCV000143998; RCV000010370;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838979,OMIM:252010	M	3460	3460	-	-	NC_012920.1:m.3460G>A	OMIM Allelic Variant:516000.0001	C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
NC_012920.1:m.3481G>A	4535	MT-ND1	Pathogenic	587776433	RCV000143999;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	3481	3481	-	-	NC_012920.1:m.3481G>A	-	C0023264 256000 Leigh syndrome
NC_012920.1:m.3890G>A	4535	MT-ND1	Pathogenic	587776434	RCV000144000;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	3890	3890	-	-	NC_012920.1:m.3890G>A	-	C0023264 256000 Leigh syndrome
NC_012920.1:m.3928G>C	4535	MT-ND1	Pathogenic	587776442	RCV000144023;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	3928	3928	-	-	NC_012920.1:m.3928G>C	-	C0023264 256000 Leigh syndrome
m.4681T>C	4536	MT-ND2	Pathogenic	267606889	RCV000010369; RCV000144022;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951	M	4681	4681	-	-	NC_012920.1:m.4681T>C	OMIM Allelic Variant:516001.0006	C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.10134C>A	4537	MT-ND3	Pathogenic	587780529	RCV000144458;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	10134	10134	-	-	NC_012920.1:m.10134C>A	-	C0023264 256000 Leigh syndrome
m.10158T>C	4537	MT-ND3	Pathogenic	199476117	RCV000010360; RCV000010361; RCV000144009;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838979,OMIM:252010	M	10158	10158	-	-	NC_012920.1:m.10158T>C	OMIM Allelic Variant:516002.0003	C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838979 252010 Mitochondrial complex I deficiency
m.10191T>C	4537	MT-ND3	Pathogenic	267606890	RCV000010358; RCV000144010;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010	M	10191	10191	-	-	NC_012920.1:m.10191T>C	OMIM Allelic Variant:516002.0001	C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
m.10197G>A	4537	MT-ND3	Pathogenic	267606891	RCV000010362; RCV000144011; RCV000010363;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1839040,OMIM:500001	M	10197	10197	-	-	NC_012920.1:m.10197G>A	OMIM Allelic Variant:516002.0004	C1839040 500001 Leber hereditary optic neuropathy with dystonia; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.10254G>A	4537	MT-ND3	Pathogenic	587776438	RCV000144012;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	10254	10254	-	-	NC_012920.1:m.10254G>A	-	C0023264 256000 Leigh syndrome
m.11777C>A	4538	MT-ND4	Pathogenic	28384199	RCV000010357; RCV000144013;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010	M	11777	11777	-	-	NC_012920.1:m.11777C>A	OMIM Allelic Variant:516003.0004	C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
NC_012920.1:m.11984T>C	4538	MT-ND4	Pathogenic	200911567	RCV000144014;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	11984	11984	-	-	NC_012920.1:m.11984T>C	-	C0023264 256000 Leigh syndrome
m.12706T>C	4540	MT-ND5	Pathogenic	267606893	RCV000010338; RCV000144015;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951	M	12706	12706	-	-	NC_012920.1:m.12706T>C	OMIM Allelic Variant:516005.0003	C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
m.13513G>A	4540	MT-ND5	Pathogenic	267606897	RCV000010346; RCV000144016; RCV000010345;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C1838951	M	13513	13513	-	-	NC_012920.1:m.13513G>A	OMIM Allelic Variant:516005.0007	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.13514A>G	4540	MT-ND5	Pathogenic	587776440	RCV000144017;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	13514	13514	-	-	NC_012920.1:m.13514A>G	-	C0023264 256000 Leigh syndrome
m.14459G>A	4541	MT-ND6	Pathogenic	199476105	RCV000010328; RCV000144019; RCV000010327; RCV000010326;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838951; MedGen:C1839040,OMIM:500001	M	14459	14459	-	-	NC_012920.1:m.14459G>A	OMIM Allelic Variant:516006.0002	C1839040 500001 Leber hereditary optic neuropathy with dystonia; C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.14484T>C	4541	MT-ND6	Pathogenic	199476104	RCV000144018; RCV000010325;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003	M	14484	14484	-	-	NC_012920.1:m.14484T>C	OMIM Allelic Variant:516006.0001	C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome
m.14487T>C	4541	MT-ND6	Pathogenic	199476109	RCV000010333; RCV000144020; RCV000010334;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838954	M	14487	14487	-	-	NC_012920.1:m.14487T>C	OMIM Allelic Variant:516006.0007	C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838954 Striatal necrosis, bilateral, with dystonia
m.8344A>G	4566	MT-TK	Pathogenic	118192098	RCV000010193; RCV000010192; RCV000010194;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C1838867,OMIM:556500	M	8344	8344	-	-	NC_012920.1:m.8344A>G	OMIM Allelic Variant:590060.0001	C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragged red fibers; C1838867 556500 Parkinson disease, mitochondrial
m.8363G>A	4566	MT-TK	Pathogenic	118192100	RCV000144004; RCV000192053; RCV000010197;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:CN069290	M	8363	8363	-	-	NC_012920.1:m.8363G>A	OMIM Allelic Variant:590060.0003	CN069290 Cardiomyopathy and Deafness; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragged red fibers
m.3243A>G	4567	MT-TL1	Pathogenic	199474657	RCV000010211; RCV000143997; RCV000022901; RCV000022902; RCV000010206; RCV000192054; RCV000032997; RCV000010208; RCV000010209; RCV000010210;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0152164,OMIM:500007,SNOMED CT:18773000; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedG	M	3243	3243	-	-	NC_012920.1:m.3243A>G	OMIM Allelic Variant:590050.0001	C0152164 500007 Cyclical vomiting syndrome; C0268237 220110 Cytochrome-c oxidase deficiency; C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragge
m.1624C>T	4577	MT-TV	Pathogenic	199476144	RCV000010158; RCV000010157;	N	Human Phenotype Ontology:HP:0003811,Human Phenotype Ontology:HP:0003820,Human Phenotype Ontology:HP:0003824,MedGen:C0410916; MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	1624	1624	-	-	NC_012920.1:m.1624C>T	OMIM Allelic Variant:590105.0002	C0023264 256000 Leigh syndrome; C0410916 Neonatal death
NC_012920.1:m.1644G>T	4577	MT-TV	Pathogenic	587776441	RCV000144021;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	1644	1644	-	-	NC_012920.1:m.1644G>T	-	C0023264 256000 Leigh syndrome
NC_012920.1:m.5523T>G	4578	MT-TW	Pathogenic	587776435	RCV000144001;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	5523	5523	-	-	NC_012920.1:m.5523T>G	-	C0023264 256000 Leigh syndrome
m.5537_5538insT	4578	MT-TW	Pathogenic	199474672	RCV000010165; RCV000010164;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1852373	M	5537	5538	-	-	NC_012920.1:m.5537_5538insT	OMIM Allelic Variant:590095.0002	C1852373 Encephalopathy, mitochondrial; C0023264 256000 Leigh syndrome
NC_012920.1:m.5559A>G	4578	MT-TW	Pathogenic	370471013	RCV000144003;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	M	5559	5559	-	-	NC_012920.1:m.5559A>G	-	C0023264 256000 Leigh syndrome
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu)	123263	MTFMT	Pathogenic	201431517	RCV000033048; RCV000190888; RCV000033047;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C3554182,OMIM:614947,ORPHA:319524	15	65313871	65313871	NM_139242.3:c.626C>T	NP_640335.2:p.Ser209Leu	NC_000015.9:g.65313871G>A	OMIM Allelic Variant:611766.0001	C3554182 614947 Combined oxidative phosphorylation deficiency 15; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.343A>G (p.Lys115Glu)	4728	NDUFS8	Likely pathogenic	764276946	RCV000200148;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	11	67800721	67800721	NM_002496.3:c.343A>G	NP_002487.1:p.Lys115Glu	NC_000011.9:g.67800721A>G	-	C0023264 256000 Leigh syndrome
NM_003172.3(SURF1):c.106+1G>C	6834	SURF1	Likely pathogenic	863224926	RCV000196131;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005	9	136223123	136223123	NM_003172.3:c.106+1G>C		NC_000009.11:g.136223123C>G	-	C0023264 256000 Leigh syndrome

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000074582	BCS1L	1	0	0	BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]	00015
ENSG00000006695	COX10	1	0	0	cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]	00015
ENSG00000014919	COX15	1	0	0	cytochrome c oxidase assembly homolog 15 (yeast) [Source:HGNC Symbol;Acc:2263]	00015
ENSG00000110074	FOXRED1	1	0	0	FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]	00015
ENSG00000198899	MT-ATP6	1	7	9	mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]	00015
ENSG00000210156	MT-TK	1	3	2	mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]	00015
ENSG00000210077	MT-TV	1	3	2	mitochondrially encoded tRNA valine [Source:HGNC Symbol;Acc:7500]	00015
ENSG00000210117	MT-TW	1	4	3	mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]	00015
ENSG00000130414	NDUFA10	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa [Source:HGNC Symbol;Acc:7684]	00015
ENSG00000184752	NDUFA12	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 [Source:HGNC Symbol;Acc:23987]	00015
ENSG00000131495	NDUFA2	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Source:HGNC Symbol;Acc:7685]	00015
ENSG00000139180	NDUFA9	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa [Source:HGNC Symbol;Acc:7693]	00015
ENSG00000164182	NDUFAF2	1	0	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]	00015
ENSG00000156170	NDUFAF6	1	0	0	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:HGNC Symbol;Acc:28625]	00015
ENSG00000213619	NDUFS3	1	0	0	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]	00015
ENSG00000164258	NDUFS4	1	0	0	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]	00015
ENSG00000115286	NDUFS7	1	0	0	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7714]	00015
ENSG00000110717	NDUFS8	1	0	1	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]	00015
ENSG00000073578	SDHA	1	1	0	succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]	00015
ENSG00000260692	SURF1	1	0	1	surfeit 1 [Source:HGNC Symbol;Acc:11474]	00015

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