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:
expandDysarthria (D004401)
Parent Node:
expandHereditary Sensory and Motor Neuropathy (D015417)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandCANOMAD syndrome (C537980)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)  LSDB  L: 00118;
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker 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 LSDB: 00042;  
Genes: POLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003581Adult onset
3 HP:0001284Areflexia
4 HP:0007344Atrophy/Degeneration involving the spinal cord
5 HP:0000518Cataract
NAMDC:  Cataracts		Rare
6 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
7 HP:0003688Decreased activity of cytochrome C oxidase in muscle tissue
8 HP:0000716Depression
NAMDC:  Depression
9 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0002578Gastroparesis
NAMDC:  Gastroparesis
12 HP:0001265Hyporeflexia
13 HP:0006858Impaired distal proprioception
14 HP:0006886Impaired distal vibration sensation
15 HP:0002151Increased serum lactate
16 HP:0003557Increased variability in muscle fiber diameter
17 HP:0004389Intestinal pseudo-obstruction
NAMDC:  Gastrointestinal pseudo-obstruction
18 HP:0002076Migraine
NAMDC:  Migraine Headaches
19 HP:0008180Mildly elevated creatine phosphokinase
20 HP:0003689Multiple mitochondrial DNA deletions
21 HP:0003713Muscle fiber necrosis
22 HP:0001336Myoclonus
NAMDC:  Myoclonus
23 HP:0000639Nystagmus
24 HP:0003812Phenotypic variability
25 HP:0002403Positive Romberg sign
26 HP:0000590Progressive external ophthalmoplegia
27 HP:0007240Progressive gait ataxia
28 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
29 HP:0000508Ptosis
NAMDC:  Ptosis
30 HP:0003200Ragged-red muscle fibers
31 HP:0001250Seizures
NAMDC:  Seizures
32 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
33 HP:0003434Sensory ataxic neuropathy
34 HP:0003390Sensory axonal neuropathy
35 HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
36 HP:0001751Vestibular dysfunction
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)5428POLGPathogenic886043241RCV000339912; RCV000290739; RCV000408338; RCV000385008; RCV000345512; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986063789860638-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicity121918049RCV000226986; RCV000014455; RCV000188604; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986228489862284OMIM Allelic Variant:174763.0010,UniProtKB (protein):P54098#VAR_023684CN517202 not provided;
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val)5428POLGUncertain significance551708243RCV000660574; RCV000551001; RCV000660574; RCV000660574; RCV000710186; RCV000188519; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202; MedGen:CN169374158986246589862465-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.2794C>T (p.His932Tyr)5428POLGPathogenic121918048RCV000014454; NMedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986418489864184OMIM Allelic Variant:174763.0009,UniProtKB (protein):P54098#VAR_023679C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.2(POLG):c.2601T>C (p.Pro867=)5428POLGConflicting interpretations of pathogenicity201749977RCV000709782; RCV000709782; RCV000709782; RCV000403402; RCV000709782; RCV000709782; RCV000734626; RCV000127526; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202; MedGen:CN169374158986448989864489-CN169374 not specified;
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp)5428POLGPathogenic121918046RCV000014446; NMedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986875189868751OMIM Allelic Variant:174763.0005,UniProtKB (protein):P54098#VAR_023672C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys)5428POLGConflicting interpretations of pathogenicity199759055RCV000660573; RCV000660573; RCV000660573; RCV000188650; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158987193089871930-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.260T>C (p.Ile87Thr)5428POLGUncertain significance-1RCV000709970; RCV000709970; RCV000709970; RCV000709970; RCV000716139; RCV000709970; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158987672689876726-
NM_198859.3(PRICKLE2):c.1813G>T (p.Val605Phe)166336PRICKLE2Pathogenic387906989RCV000023710; RCV000679893; NMedGen:CN226157, Orphanet:ORPHA402082; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA7059536408544964085449OMIM Allelic Variant:608501.0002,UniProtKB (protein):Q7Z3G6#VAR_065584CN226157 Epilepsy, progressive myoclonic 5;
NM_021830.4(TWNK):c.955A>G (p.Lys319Glu)56652TWNKPathogenic80356543RCV000004888; RCV000020867; NMedGen:C1836439,OMIM:609286; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA7059510102748922102748922OMIM Allelic Variant:606075.0010,UniProtKB (protein):Q96RR1#VAR_023649C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000107815 MSeqDR Search EnsemblC10orf2120chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]00042
ENSG00000140521 MSeqDR Search EnsemblPOLG158polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00042

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