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: Dysarthria (D004401)
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..CANOMAD syndrome (C537980)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) L: 00410;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..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 Recessive (C564926) L: 00118;
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042;
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10128

Name:

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Definition:

Alternative IDs:

OMIM:607459

ParentIDs:

MESH:D004401|MESH:D009886|MESH:D015417

TreeNumbers:

C10.292.562.750/C537583 |C10.500.300/C537583 |C10.574.500.495/C537583 |C10.597.606.150.500.800.150.200/C537583 |C10.597.622.447/C537583 |C10.668.829.800.300/C537583 |C11.590.472/C537583 |C16.131.666.300/C537583 |C16.320.400.375/C537583 |C23.888.592.604.150.500.80

Synonyms:

SANDO |SCAE, INCLUDED |SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C537583
MeSH: C537583
OMIM: 607459;
MSeqDR : 00042;
Genes: POLG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0001284	Areflexia
4	HP:0007344	Atrophy/Degeneration involving the spinal cord
5	HP:0000518	Cataract NAMDC: Cataracts	Rare
6	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
7	HP:0003688	Decreased activity of cytochrome C oxidase in muscle tissue
8	HP:0000716	Depression NAMDC: Depression
9	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
10	HP:0001260	Dysarthria NAMDC: Dysarthria
11	HP:0002578	Gastroparesis NAMDC: Gastroparesis
12	HP:0001265	Hyporeflexia
13	HP:0006858	Impaired distal proprioception
14	HP:0006886	Impaired distal vibration sensation
15	HP:0002151	Increased serum lactate
16	HP:0003557	Increased variability in muscle fiber diameter
17	HP:0004389	Intestinal pseudo-obstruction NAMDC: Gastrointestinal pseudo-obstruction
18	HP:0002076	Migraine NAMDC: Migraine Headaches
19	HP:0008180	Mildly elevated creatine phosphokinase
20	HP:0003689	Multiple mitochondrial DNA deletions
21	HP:0003713	Muscle fiber necrosis
22	HP:0001336	Myoclonus NAMDC: Myoclonus
23	HP:0000639	Nystagmus
24	HP:0003812	Phenotypic variability
25	HP:0002403	Positive Romberg sign
26	HP:0000590	Progressive external ophthalmoplegia
27	HP:0007240	Progressive gait ataxia
28	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
29	HP:0000508	Ptosis NAMDC: Ptosis
30	HP:0003200	Ragged-red muscle fibers
31	HP:0001250	Seizures NAMDC: Seizures
32	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
33	HP:0003434	Sensory ataxic neuropathy
34	HP:0003390	Sensory axonal neuropathy
35	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
36	HP:0001751	Vestibular dysfunction

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_021830.4(C10orf2):c.955A>G (p.Lys319Glu)	56652	C10orf2	Pathogenic	80356543	RCV000004888; RCV000020867;	N	MedGen:C1836439,OMIM:609286; MedGen:C1843851,OMIM:607459,ORPHA:70595	10	102748922	102748922	NM_021830.4:c.955A>G	NP_068602.2:p.Lys319Glu	NC_000010.10:g.102748922A>G	OMIM Allelic Variant:606075.0010	C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg)	5428	POLG	Pathogenic	121918049	RCV000014455; RCV000188604;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:CN221809	15	89862284	89862284	NM_002693.2:c.3151G>C	NP_002684.1:p.Gly1051Arg	NC_000015.9:g.89862284C>G	OMIM Allelic Variant:174763.0010	CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2794C>T (p.His932Tyr)	5428	POLG	Pathogenic	121918048	RCV000014454;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595	15	89864184	89864184	NM_002693.2:c.2794C>T	NP_002684.1:p.His932Tyr	NC_000015.9:g.89864184G>A	OMIM Allelic Variant:174763.0009	C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2554C>T (p.Arg852Cys)	5428	POLG	Likely pathogenic;Pathogenic	144500145	RCV000188581; RCV000196524;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89865011	89865011	NM_002693.2:c.2554C>T	NP_002684.1:p.Arg852Cys	NC_000015.9:g.89865011G>A	-	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2554C>T (p.Arg852Cys)	5428	POLG	Likely pathogenic;Pathogenic	144500145	RCV000188581; RCV000196524;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89865011	89865011	NM_002693.2:c.2554C>T	NP_002684.1:p.Arg852Cys	NC_000015.9:g.89865011G>A	-	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)	5428	POLG	Pathogenic;Uncertain significance	113994097	RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809	15	89866657	89866657	NM_002693.2:c.2243G>C	NP_002684.1:p.Trp748Ser	NC_000015.9:g.89866657C>G	HGMD:CM042764,OMIM Allelic Variant:174763.0013	C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)	5428	POLG	Pathogenic;Uncertain significance	113994097	RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809	15	89866657	89866657	NM_002693.2:c.2243G>C	NP_002684.1:p.Trp748Ser	NC_000015.9:g.89866657C>G	HGMD:CM042764,OMIM Allelic Variant:174763.0013	C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; CN169374 not specified; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, an
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg)	5428	POLG	Pathogenic;Uncertain significance	121918054	RCV000174519; RCV000014467; RCV000174520; RCV000188568; RCV000190616;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C3150914,OMIM:613662; MedGen:CN169374; MedGen:CN221809	15	89866691	89866691	NM_002693.2:c.2209G>C	NP_002684.1:p.Gly737Arg	NC_000015.9:g.89866691C>G	OMIM Allelic Variant:174763.0019	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; CN221809 not provided; CN169374 not specified; C1843851 607459 Sensory ataxic neuropathy, dysart
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp)	5428	POLG	Pathogenic	121918046	RCV000014446;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595	15	89868751	89868751	NM_002693.2:c.1879C>T	NP_002684.1:p.Arg627Trp	NC_000015.9:g.89868751G>A	OMIM Allelic Variant:174763.0005	C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)	5428	POLG	Pathogenic	113994095	RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1834846,OMIM:157640; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89870432	89870432	NM_002693.2:c.1399G>A	NP_002684.1:p.Ala467Thr	NC_000015.9:g.89870432C>T	OMIM Allelic Variant:174763.0002	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221
NM_002693.2(POLG):c.32G>A (p.Gly11Asp)	5428	POLG	Likely pathogenic;Pathogenic;Uncertain significance	765472726	RCV000175734; RCV000196524;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89876954	89876954	NM_002693.2:c.32G>A	NP_002684.1:p.Gly11Asp	NC_000015.9:g.89876954C>T	-	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NM_002693.2(POLG):c.32G>A (p.Gly11Asp)	5428	POLG	Likely pathogenic;Pathogenic;Uncertain significance	765472726	RCV000175734; RCV000196524;	N	MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809	15	89876954	89876954	NM_002693.2:c.32G>A	NP_002684.1:p.Gly11Asp	NC_000015.9:g.89876954C>T	-	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000107815	C10orf2	1	2	1	chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]	00042
ENSG00000140521	POLG	1	5	8	polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]	00042

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

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