SANDO
MCID: SNS008
MIFTS: 44

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

MalaCards integrated aliases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

Name: Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 57 53 29 6 73
Mitochondrial Recessive Ataxia Syndrome 57 75 37 13 40
Epilepsy, Progressive Myoclonic 5 75 29 13 6
Sando 57 53 59 75
Spinocerebellar Ataxia with Epilepsy 59 75 73
Miras 59 75
Mscae 59 75
Scae 59 75
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive 57
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive 75
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 59
Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy 75
Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis 75
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome 75
Mitochondrial Spinocerebellar Ataxia with Epilepsy 59
Epilepsy, Myoclonic, Progressive, Type 5 40
Recessive Mitochondrial Ataxia Syndrome 59
Epilepsy, Progressive Myoclonic, 5 73
Ataxia Neuropathy Spectrum 73
Epm5 75

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia with epilepsy
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Inheritance: Autosomal recessive; Age of onset: Adult;
recessive mitochondrial ataxia syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
young-adult onset (18-30 years) of sensory ataxia
later onset of ophthalmoparesis


HPO:

32
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:
Onset and clinical course adult onset phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 70595Disease definitionSensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.EpidemiologyThe prevalence is unknown.Clinical descriptionOther common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy.EtiologyThe syndrome is associated with mitochondrial DNAmutations in either the POLG1 or TWINKLE genes.Genetic counselingAutosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as mitochondrial recessive ataxia syndrome, is related to myoclonic epilepsy myopathy sensory ataxia and ataxia neuropathy spectrum, and has symptoms including ophthalmoplegia An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include skeletal muscle, spinal cord and bone, and related phenotypes are seizures and dysarthria

OMIM : 57 SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue (Fadic et al., 1997). The phenotype varies widely, even within the same family, and can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by Milone and Massie, 2010). Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures (Winterthun et al., 2005). (607459)

UniProtKB/Swiss-Prot : 75 Sensory ataxic neuropathy dysarthria and ophthalmoparesis: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. Spinocerebellar ataxia with epilepsy: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.

Related Diseases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy myopathy sensory ataxia 32.7 MIR6766 POLG
2 ataxia neuropathy spectrum 32.2 MRPL43 POLG TWNK
3 mitochondrial dna depletion syndrome 7 32.0 MRPL43 TWNK
4 progressive myoclonic epilepsy type 5 31.7 POLG PRICKLE2
5 chronic progressive external ophthalmoplegia 30.1 POLG TWNK
6 leprosy 1 11.1
7 neuropathy 10.6
8 lung cancer 10.2
9 autosomal dominant cerebellar ataxia 10.1
10 mitochondrial dna depletion syndrome 10.1 POLG TWNK
11 mitochondrial dna depletion syndrome 1 10.1 MIR6766 POLG
12 maternally-inherited progressive external ophthalmoplegia 10.1 POLG TWNK
13 mitochondrial dna depletion syndrome 4a 10.0 POLG TWNK
14 diabetic polyneuropathy 10.0 POLG TWNK
15 movement disease 10.0
16 dysphagia 10.0
17 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
18 colorectal cancer 10.0
19 rheumatoid arthritis 10.0
20 arthritis 10.0
21 atrioventricular block 10.0
22 pseudohermaphroditism 10.0
23 ocular motility disease 10.0 POLG TWNK
24 myoclonic epilepsy associated with ragged-red fibers 10.0 POLG TWNK
25 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 POLG TWNK
26 axonal neuropathy 10.0 POLG TWNK
27 kearns-sayre syndrome 9.9 POLG TWNK
28 mitochondrial metabolism disease 9.9 POLG TWNK
29 perrault syndrome 5 9.9 MRPL43 TWNK
30 perrault syndrome 9.9 MRPL43 TWNK
31 mitochondrial dna depletion syndrome 4b 9.9 FANCI MIR6766 POLG
32 autosomal recessive cerebellar ataxia 9.8 MRPL43 TWNK
33 muscular disease 9.8 POLG TWNK
34 autosomal dominant progressive external ophthalmoplegia 9.4 FANCI MIR6766 MRPL43 POLG TWNK

Graphical network of the top 20 diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:



Diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Symptoms & Phenotypes for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
blepharoptosis
upward gaze paresis
ophthalmoparesis, progressive, external
cataracts (less common)

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
sensory ataxic neuropathy
distal sensory impairment to vibration and proprioception
sural nerve biopsy shows loss of large and small myelinated axons

Head And Neck Ears:
vestibular dysfunction
sensorineural hearing loss

Laboratory Abnormalities:
mildly increased serum creatine kinase
mildly increased serum lactate

Abdomen Gastrointestinal:
gastroparesis (less common)
intestinal pseudo-obstruction (less common)

Muscle Soft Tissue:
dysarthria
ragged red fibers seen on muscle biopsy
increased variation in fiber size
subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy
proximal muscle weakness, mild
more
Neurologic Central Nervous System:
migraine
areflexia
hyporeflexia
positive romberg sign
cognitive impairment, mild
more
Neurologic Behavioral Psychiatric Manifestations:
depression
memory difficulties
lack of concentration
withdrawal

Cardiovascular Heart:
dilated cardiomyopathy (less common)


Clinical features from OMIM:

607459

Human phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
6 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
7 hashimoto thyroiditis 59 32 frequent (33%) Frequent (79-30%) HP:0000872
8 sensory axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003390
9 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
10 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
11 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
12 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
13 increased serum pyruvate 59 32 frequent (33%) Frequent (79-30%) HP:0003542
14 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
15 st segment elevation 59 32 frequent (33%) Frequent (79-30%) HP:0012251
16 limb dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0002406
17 positive romberg sign 59 32 frequent (33%) Frequent (79-30%) HP:0002403
18 abnormality of central motor conduction 59 32 frequent (33%) Frequent (79-30%) HP:0012079
19 ptosis 32 HP:0000508
20 nystagmus 32 HP:0000639
21 depressivity 32 HP:0000716
22 ataxia 59 Frequent (79-30%)
23 cataract 32 occasional (7.5%) HP:0000518
24 sensorineural hearing impairment 32 HP:0000407
25 elevated serum creatine phosphokinase 32 HP:0003236
26 abnormality of movement 59 Frequent (79-30%)
27 peripheral neuropathy 59 Frequent (79-30%)
28 myoclonus 32 HP:0001336
29 dysmetria 59 Frequent (79-30%)
30 dilated cardiomyopathy 32 HP:0001644
31 migraine 32 HP:0002076
32 increased serum lactate 32 HP:0002151
33 gastroparesis 32 HP:0002578
34 ragged-red muscle fibers 32 HP:0003200
35 progressive external ophthalmoplegia 32 HP:0000590
36 hyporeflexia 32 HP:0001265
37 proximal muscle weakness 32 HP:0003701
38 progressive gait ataxia 32 HP:0007240
39 mildly elevated creatine phosphokinase 32 HP:0008180
40 increased variability in muscle fiber diameter 32 HP:0003557
41 sensory ataxic neuropathy 32 HP:0003434
42 vestibular dysfunction 32 HP:0001751
43 intestinal pseudo-obstruction 32 HP:0004389
44 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
45 impaired distal proprioception 32 HP:0006858
46 impaired distal vibration sensation 32 HP:0006886
47 muscle fiber necrosis 32 HP:0003713
48 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
49 multiple mitochondrial dna deletions 32 HP:0003689
50 atrophy/degeneration involving the spinal cord 32 HP:0007344

UMLS symptoms related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:


ophthalmoplegia

Drugs & Therapeutics for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Search Clinical Trials , NIH Clinical Center for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Genetic Tests for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Genetic tests related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

# Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 29 POLG TWNK
2 Epilepsy, Progressive Myoclonic 5 29

Anatomical Context for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

MalaCards organs/tissues related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

41
Skeletal Muscle, Spinal Cord, Bone, Thyroid, Lung

Publications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Articles related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

# Title Authors Year
1
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. ( 27552387 )
2016
2
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed. ( 25586537 )
2015
3
A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions. ( 23524600 )
2013
4
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. ( 19813183 )
2010

Variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

UniProtKB/Swiss-Prot genetic disease variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

75
# Symbol AA change Variation ID SNP ID
1 POLG p.Ala467Thr VAR_012155 rs113994095
2 POLG p.Gln497His VAR_023669 rs121918052
3 POLG p.Arg627Trp VAR_023672 rs121918046
4 POLG p.His932Tyr VAR_023679 rs121918048
5 POLG p.Gly1051Arg VAR_023684 rs121918049
6 POLG p.Gly517Val VAR_058879 rs61752783
7 POLG p.Arg627Gln VAR_058883 rs375305567
8 POLG p.Arg807Cys VAR_058887 rs769827124

ClinVar genetic disease variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh37 Chromosome 10, 102748922: 102748922
2 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh38 Chromosome 10, 100989165: 100989165
3 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
4 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
5 POLG NM_002693.2(POLG): c.1879C> T (p.Arg627Trp) single nucleotide variant Pathogenic rs121918046 GRCh37 Chromosome 15, 89868751: 89868751
6 POLG NM_002693.2(POLG): c.1879C> T (p.Arg627Trp) single nucleotide variant Pathogenic rs121918046 GRCh38 Chromosome 15, 89325520: 89325520
7 POLG NM_002693.2(POLG): c.2794C> T (p.His932Tyr) single nucleotide variant Pathogenic rs121918048 GRCh37 Chromosome 15, 89864184: 89864184
8 POLG NM_002693.2(POLG): c.2794C> T (p.His932Tyr) single nucleotide variant Pathogenic rs121918048 GRCh38 Chromosome 15, 89320953: 89320953
9 POLG NM_002693.2(POLG): c.3151G> C (p.Gly1051Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918049 GRCh37 Chromosome 15, 89862284: 89862284
10 POLG NM_002693.2(POLG): c.3151G> C (p.Gly1051Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918049 GRCh38 Chromosome 15, 89319053: 89319053
11 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
12 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
13 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
14 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh38 Chromosome 15, 89323426: 89323426
15 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
16 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
17 PRICKLE2 NM_198859.3(PRICKLE2): c.443G> A (p.Arg148His) single nucleotide variant no interpretation for the single variant rs387906988 GRCh37 Chromosome 3, 64142995: 64142995
18 PRICKLE2 NM_198859.3(PRICKLE2): c.443G> A (p.Arg148His) single nucleotide variant no interpretation for the single variant rs387906988 GRCh38 Chromosome 3, 64157319: 64157319
19 PRICKLE2 NM_198859.3(PRICKLE2): c.457G> A (p.Val153Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139747674 GRCh37 Chromosome 3, 64142981: 64142981
20 PRICKLE2 NM_198859.3(PRICKLE2): c.457G> A (p.Val153Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139747674 GRCh38 Chromosome 3, 64157305: 64157305
21 PRICKLE2 NM_198859.3(PRICKLE2): c.1813G> T (p.Val605Phe) single nucleotide variant Pathogenic rs387906989 GRCh37 Chromosome 3, 64085449: 64085449
22 PRICKLE2 NM_198859.3(PRICKLE2): c.1813G> T (p.Val605Phe) single nucleotide variant Pathogenic rs387906989 GRCh38 Chromosome 3, 64099773: 64099773
23 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh37 Chromosome 15, 89862304: 89862304
24 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh38 Chromosome 15, 89319073: 89319073
25 PRICKLE2 NM_198859.3(PRICKLE2): c.144+10T> C single nucleotide variant Benign rs74535153 GRCh37 Chromosome 3, 64184450: 64184450
26 PRICKLE2 NM_198859.3(PRICKLE2): c.144+10T> C single nucleotide variant Benign rs74535153 GRCh38 Chromosome 3, 64198774: 64198774
27 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh37 Chromosome 3, 64132615: 64132615
28 PRICKLE2 NM_198859.3(PRICKLE2): c.1551G> A (p.Gln517=) single nucleotide variant Benign/Likely benign rs116353694 GRCh38 Chromosome 3, 64146939: 64146939
29 PRICKLE2 NM_198859.3(PRICKLE2): c.816T> C (p.Asp272=) single nucleotide variant Benign rs27673 GRCh37 Chromosome 3, 64133350: 64133350
30 PRICKLE2 NM_198859.3(PRICKLE2): c.816T> C (p.Asp272=) single nucleotide variant Benign rs27673 GRCh38 Chromosome 3, 64147674: 64147674
31 POLG NM_002693.2(POLG): c.2601T> C (p.Pro867=) single nucleotide variant Conflicting interpretations of pathogenicity rs201749977 GRCh38 Chromosome 15, 89321258: 89321258
32 POLG NM_002693.2(POLG): c.2601T> C (p.Pro867=) single nucleotide variant Conflicting interpretations of pathogenicity rs201749977 GRCh37 Chromosome 15, 89864489: 89864489
33 PRICKLE2 NM_198859.3(PRICKLE2): c.444C> T (p.Arg148=) single nucleotide variant Benign/Likely benign rs146538069 GRCh37 Chromosome 3, 64142994: 64142994
34 PRICKLE2 NM_198859.3(PRICKLE2): c.444C> T (p.Arg148=) single nucleotide variant Benign/Likely benign rs146538069 GRCh38 Chromosome 3, 64157318: 64157318
35 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh37 Chromosome 15, 89871763: 89871763
36 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh38 Chromosome 15, 89328532: 89328532
37 PRICKLE2 NM_198859.3(PRICKLE2): c.788-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180903875 GRCh37 Chromosome 3, 64133384: 64133384
38 PRICKLE2 NM_198859.3(PRICKLE2): c.788-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180903875 GRCh38 Chromosome 3, 64147708: 64147708
39 POLG NM_002693.2(POLG): c.3098C> T (p.Ala1033Val) single nucleotide variant Uncertain significance rs551708243 GRCh37 Chromosome 15, 89862465: 89862465
40 POLG NM_002693.2(POLG): c.3098C> T (p.Ala1033Val) single nucleotide variant Uncertain significance rs551708243 GRCh38 Chromosome 15, 89319234: 89319234
41 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh38 Chromosome 15, 89323462: 89323462
42 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh37 Chromosome 15, 89866693: 89866693
43 POLG NM_002693.2(POLG): c.1156C> T (p.Arg386Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199759055 GRCh37 Chromosome 15, 89871930: 89871930
44 POLG NM_002693.2(POLG): c.1156C> T (p.Arg386Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199759055 GRCh38 Chromosome 15, 89328699: 89328699
45 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh37 Chromosome 3, 64145632: 64145632
46 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh38 Chromosome 3, 64159956: 64159956
47 PRICKLE2 NM_198859.3(PRICKLE2): c.2103G> T (p.Leu701=) single nucleotide variant Conflicting interpretations of pathogenicity rs200220646 GRCh37 Chromosome 3, 64085159: 64085159
48 PRICKLE2 NM_198859.3(PRICKLE2): c.2103G> T (p.Leu701=) single nucleotide variant Conflicting interpretations of pathogenicity rs200220646 GRCh38 Chromosome 3, 64099483: 64099483
49 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638
50 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh38 Chromosome 15, 89317406: 89317407

Expression for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Search GEO for disease gene expression data for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis.

Pathways for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

GO Terms for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Cellular components related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 POLG TWNK

Biological processes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 POLG TWNK
2 cellular response to glucose stimulus GO:0071333 8.96 POLG TWNK
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Molecular functions related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 POLG TWNK

Sources for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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