SANDO
MCID: SNS008
MIFTS: 60

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO)

Categories: 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 12 20 44 15 71
Mitochondrial Recessive Ataxia Syndrome 57 73 36 13 39
Sando 57 12 20 58 73
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 58 29 6
Spinocerebellar Ataxia with Epilepsy 58 73 71
Epilepsy, Progressive Myoclonic 5 73 29 6
Miras 58 73
Mscae 58 73
Scae 58 73
Epm5 58 73
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive 57
Autosomal Recessive Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions 12
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive 73
Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy 73
Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis 73
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome 73
Mitochondrial Spinocerebellar Ataxia with Epilepsy 58
Epilepsy, Myoclonic, Progressive, Type 5 39
Recessive Mitochondrial Ataxia Syndrome 58
Progressive Myoclonic Epilepsy Type 5 58
Progressive Myoclonus Epilepsy Type 5 58
Epilepsy, Progressive Myoclonic, 5 71
Ataxia Neuropathy Spectrum 71
Pme Type 5 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia with epilepsy
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;
progressive myoclonic epilepsy type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Inheritance: Autosomal recessive; Age of onset: Adult;
recessive mitochondrial ataxia syndrome
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

UniProtKB/Swiss-Prot : 73 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.

MalaCards based summary : Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as mitochondrial recessive ataxia syndrome, is related to ataxia neuropathy spectrum and mitochondrial dna depletion syndrome 7, and has symptoms including ophthalmoplegia An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Mitochondrial Gene Expression and Valproic Acid Pathway, Pharmacodynamics. The drugs Midazolam and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and cortex, and related phenotypes are ptosis and nystagmus

Disease Ontology : 12 A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has material basis in homozygous or compound heterozygous mutation in POLG on 15q26.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 70595DefinitionSensory 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 DNA mutations 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.

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) (Updated 05-Mar-2021)

KEGG : 36 Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) and Spinocerebellar ataxia with epilepsy (SCAE). MIRAS is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. Most cases of SANDO present with an initial stage of sensory neuropathy, a second stage of progressive external ophahlmoplegia and dysarthria, which is then followed by other symptoms, often with epilepsia or myoclonus.

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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 ataxia neuropathy spectrum 33.1 TWNK PRICKLE2-AS1 POLG
2 mitochondrial dna depletion syndrome 7 31.4 TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4 RRM2B
3 ptosis 31.2 TYMP TWNK RRM2B POLG
4 neuropathy 31.2 TYMP TWNK SPG7 SLC25A4 POLG MPV17
5 autosomal dominant cerebellar ataxia 30.6 TWNK TMEM240 SPG7 POLG
6 mitochondrial neurogastrointestinal encephalomyopathy 30.4 TYMP RRM2B POLG
7 acute liver failure 30.3 POLG2 POLG
8 polyneuropathy 30.1 SPG7 POLG MPV17
9 mitochondrial disorders 29.9 TYMP TWNK SPG7 SLC25A4 RRM2B POLG2
10 kearns-sayre syndrome 29.8 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SPG7
11 mitochondrial metabolism disease 29.7 TWNK SUCLG1 SUCLA2 SLC25A4 RRM2B POLG2
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 29.7 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 29.7 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
14 chronic progressive external ophthalmoplegia 29.6 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SPG7
15 mitochondrial dna depletion syndrome 4a 29.4 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
16 myoclonic epilepsy myopathy sensory ataxia 11.3
17 ataxia and polyneuropathy, adult-onset 10.6
18 polg-related disorders 10.5 TWNK POLG
19 myotonic cataract 10.5 TWNK POLG
20 camptocormism 10.4 RRM2B POLG
21 central nervous system origin vertigo 10.4 SLC25A4 POLG
22 mitochondrial dna depletion syndrome 12a 10.4 SLC25A4 POLG
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 10.4 RRM2B RNASEH1
24 mitochondrial complex iii deficiency, nuclear type 2 10.4 TWNK SPG7 POLG
25 spinocerebellar ataxia 20 10.4 TMEM240 POLG
26 mitochondrial dna depletion syndrome 1 10.4 TYMP POLG MPV17
27 mitochondrial dna depletion syndrome 12b 10.4 SLC25A4 POLG
28 cranial nerve disease 10.4 TWNK SPG7 POLG
29 visual cortex disease 10.4 POLG2 POLG
30 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.4 SUCLA2 POLG MPV17
31 axonal neuropathy 10.4 TWNK SLC25A4 POLG
32 sensorineural hearing loss 10.3
33 charcot-marie-tooth disease 10.3
34 tooth disease 10.3
35 movement disease 10.3
36 dysphagia 10.3
37 visual pathway disease 10.3 POLG2 POLG
38 mitochondrial dna depletion syndrome, encephalomyopathic form 10.3 SUCLG1 SUCLA2 RRM2B
39 optic atrophy 9 10.3 SUCLA2 SPG7
40 early myoclonic encephalopathy 10.3 TWNK SPG7 POLG
41 neuropathy, ataxia, and retinitis pigmentosa 10.3 TWNK POLG
42 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.3 TYMP TWNK POLG DGUOK
43 motor peripheral neuropathy 10.3 SPG7 POLG MPV17 DGUOK
44 cerebellar disease 10.3 TWNK SPG7 POLG
45 metabolic acidosis 10.3 RRM2B POLG2 MPV17
46 perrault syndrome 10.3 TWNK SSBP1 SPG7
47 optic nerve disease 10.3 TWNK SPG7 POLG
48 dentatorubral-pallidoluysian atrophy 10.3 TWNK TMEM240 SPG7 POLG
49 infantile cerebellar-retinal degeneration 10.3 SUCLG1 SUCLA2
50 lactic acidosis 10.2 SUCLG1 SLC25A4 RRM2B POLG2 POLG

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

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

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 dysarthria 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001260
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
7 cognitive impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0100543
8 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
9 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0000872
10 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
11 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
12 areflexia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001284
13 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
16 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
17 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
18 positive romberg sign 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002403
19 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002495
20 impaired distal proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0006858
21 increased serum pyruvate 58 31 frequent (33%) Frequent (79-30%) HP:0003542
22 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
23 vestibular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0001751
24 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
25 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
26 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
27 abnormal thalamic mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012696
28 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
29 sensory ataxic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003434
30 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
31 st segment elevation 58 31 frequent (33%) Frequent (79-30%) HP:0012251
32 upgaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0025331
33 abnormal morphology of the cerebellar cortex 58 31 frequent (33%) Frequent (79-30%) HP:0031422
34 abnormality of central motor conduction 58 31 frequent (33%) Frequent (79-30%) HP:0012079
35 atrophy/degeneration involving the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0007344
36 seizure 31 occasional (7.5%) HP:0001250
37 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
38 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
39 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
40 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
41 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
42 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
43 intestinal pseudo-obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0004389
44 seizures 58 Frequent (79-30%),Occasional (29-5%)
45 ataxia 58 Frequent (79-30%)
46 sensorineural hearing impairment 31 HP:0000407
47 abnormality of movement 58 Frequent (79-30%)
48 elevated serum creatine kinase 31 HP:0003236
49 progressive external ophthalmoplegia 31 HP:0000590
50 dysmetria 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
blepharoptosis
upward gaze paresis
ophthalmoparesis, progressive, external
cataracts (less common)

Neurologic Central Nervous System:
areflexia
migraine
hyporeflexia
positive romberg sign
cognitive impairment, mild
more
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

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
necrotic and atrophic fibers with centralized nuclei
subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy
more
Head And Neck Ears:
vestibular dysfunction
sensorineural hearing loss

Neurologic Behavioral Psychiatric Manifestations:
depression
memory difficulties
lack of concentration
withdrawal

Cardiovascular Heart:
dilated cardiomyopathy (less common)

Clinical features from OMIM®:

607459 (Updated 05-Mar-2021)

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


ophthalmoplegia

GenomeRNAi Phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.4 C1S DGUOK MPV17 SLC25A4 TYMP ZNHIT1
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.4 C1S DGUOK MPV17 SLC25A4 TYMP ZNHIT1

MGI Mouse Phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.36 DGUOK DNA2 MPV17 POLG POLG2 RNASEH1

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

Drugs for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit 59467-70-8 4192
2
Paclitaxel Approved, Vet_approved 33069-62-4 36314
3 Antimitotic Agents
4 Tubulin Modulators
5 Pharmaceutical Solutions
6 Anesthetics
7 Albumin-Bound Paclitaxel

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 The Mindfulness Intervention and Repeated Acute Stress (MIRAS) Study Unknown status NCT02894229
2 Evaluation of Real Imaging's 3d Functional Metabolic Imaging and Risk Assessment (Mira) System Unknown status NCT02155075
3 Evaluation of REAL IMAGING'S 3D Functional Metabolic Imaging and Risk Assessment ("3D MIRA") System in Women at High Risk for Breast Cancer Unknown status NCT02009150
4 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Unknown status NCT03080155
5 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
6 Clinical Trial Comparing Patency and Safety of the Paclitaxel Eluting Covered Metallic Biliary Stent(Niti-S Mira-Cover Biliary Stent ) to the Common Covered Metallic Biliary Stent(Niti-S Biliary Stent) Completed NCT01512563
7 A Prospective, Randomized, Single Blind Study to Evaluate the Effectiveness and Safety Comparing Niti-S Mira-Cover III Biliary Stent With ComVi Biliary Covered Stent in Patients With Malignant Biliary Obstruction Completed NCT02460432
8 Community Based Doulas for Migrant Women in Labour and Birth in Sweden - a Randomised Controlled Trial Completed NCT03461640
9 Pneumatic Retinopexy Preceded by Drainage of Subretinal Fluid for the Treatment of Severe Bullous Retinal Detachment Completed NCT04139746
10 Effectiveness of Virtual Reality to Reduce Pre-Operative Anxiety Recruiting NCT04268914
11 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Recruiting NCT03296683
12 Does the Application of a Digital Tool With Real-time, Self-reported Data Facilitate Shared Decision-making and Increase Self-efficacy in Vocational Rehabilitation? A Mixed Methods Study Not yet recruiting NCT04695002
13 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Not yet recruiting NCT03967834
14 Developing a Mobile Intervention for Veterans With PTSD and Problematic Anger Not yet recruiting NCT03733028
15 A Randomized Clinical Trial Comparing Patency and Safety of the Paclitaxel Eluting Covered Metallic Biliary Stent (Niti-S Mira-Cover II Biliary Stent) to the Common Covered Metallic Biliary Stent. Terminated NCT01413386
16 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System for Classifying Women at High Risk of Breast Cancer Terminated NCT02777164
17 Imaging Modality Effects on the Multi-dimensional InfraRed Analysis (MIRA) Technology Withdrawn NCT01029977

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

Cochrane evidence based reviews: 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-Ophthalmoparesis Syndrome 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:

40
Skeletal Muscle, Spinal Cord, Cortex, Kidney, Liver, Breast

Publications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

(show top 50) (show all 88)
# Title Authors PMID Year
1
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 61 57 6
12565911 2003
2
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 57 6
26942291 2016
3
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 57 6
26942292 2016
4
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 57 6
21276947 2011
5
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 6 57
16080118 2005
6
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 6 57
15824347 2005
7
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 6 57
15477547 2004
8
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 57 6
14745080 2004
9
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 57 6
11571332 2001
10
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 57 6
632821 1978
11
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. 57 61
9222196 1997
12
Polymerase gamma 1 mutations: clinical correlations. 57
20220442 2010
13
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 57
19752458 2009
14
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 6
19251978 2009
15
Do carriers of POLG mutation W748S have disease manifestations? 6
17894835 2007
16
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
17
POLG mutations in Alpers syndrome. 6
16177225 2005
18
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 6
16130100 2005
19
POLG mutations and Alpers syndrome. 6
15929042 2005
20
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 6
15122711 2004
21
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 6
14694057 2003
22
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6
11431686 2001
23
Commentary on "Delayed, two-staged autologous breast reconstruction: an approach to improving delayed reconstructive outcomes" by AA Patel, L Cai, S Moshrefi, IC Sando, GK Lee & RS Nazerali. 61
33584011 2021
24
Orphan Peripheral Neuropathies. 61
32986679 2021
25
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 61
33396418 2020
26
Epiphora and unrecognized paranasal sinuses pathology. 61
32671284 2020
27
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. 61
32600829 2020
28
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2020
29
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
30
Correction: Sando E. et al. Serological Cross-Reactivity among Orientia tsutsugamushi Serotypes but Not with Rickettsia japonica in Japan. Trop. Med. Infect. Dis. 2018, 3, 74. 61
30366455 2018
31
Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome. 61
28792617 2018
32
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype. 61
29644085 2018
33
Outcomes of Endoscopic Dacryocystorhinostomy in Secondary Acquired Nasolacrimal Duct Obstruction: A Case-Control Study. 61
27997463 2018
34
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. 61
27552387 2016
35
Movement disorders in mitochondrial diseases. 61
27476418 2016
36
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 61
26735972 2016
37
Cylindrical angular spectrum using Fourier coefficients of point light source and its application to fast hologram calculation. 61
26698438 2015
38
Resistance to the Ug99 Race Group of Puccinia graminis f. sp. tritici in Wheat-Intra/intergeneric Hybrid Derivatives. 61
30690994 2015
39
Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome. 61
30838234 2015
40
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. 61
25143630 2015
41
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. 61
25660390 2015
42
Severe cytomegalovirus infection in a second kidney transplant recipient treated with ganciclovir, leflunomide, and immunoglobulins, with complications including seizures, acute HCV infection, drug-induced pancytopenia, diabetes, cholangitis, and multi-organ failure with fatal outcome: a case report. 61
25813912 2015
43
POLG1-related levodopa-responsive parkinsonism. 61
25203713 2014
44
Diagnostic and treatment dilemmas of persistent chronic hypokalaemia in a patient with anorexia nervosa: a case report. 61
25193360 2014
45
Inherited peripheral neuropathies due to mitochondrial disorders. 61
24768438 2014
46
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 61
24099403 2013
47
Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome. 61
23997076 2013
48
Commercialization of regenerative medicine: learning from spin-outs. 61
23470045 2013
49
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. 61
22729384 2013
50
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 61
23524600 2013

Variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

6 (show top 50) (show all 245)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRICKLE2 NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) Deletion Pathogenic 209186 rs797045065 3:64145632-64145632 3:64159956-64159956
2 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201
3 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201
4 POLG NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) SNV Pathogenic 13499 rs121918046 15:89868751-89868751 15:89325520-89325520
5 POLG NM_002693.2(POLG):c.2794C>T (p.His932Tyr) SNV Pathogenic 13500 rs121918048 15:89864184-89864184 15:89320953-89320953
6 POLG NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) SNV Pathogenic 13501 rs121918049 15:89862284-89862284 15:89319053-89319053
7 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV Pathogenic 4625 rs80356543 10:102748922-102748922 10:100989165-100989165
8 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201
9 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Pathogenic 206528 rs144500145 15:89865011-89865011 15:89321780-89321780
10 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055
11 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792
12 PRICKLE2-AS1 NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) SNV Pathogenic 30733 rs387906989 3:64085449-64085449 3:64099773-64099773
13 POLG NM_002693.2(POLG):c.3630C>A (p.Tyr1210Ter) SNV Pathogenic 694430 rs139562274 15:89860620-89860620 15:89317389-89317389
14 POLG NM_002693.2(POLG):c.3570_3573GAAG[1] (p.Lys1191_Glu1192insTer) Microsatellite Pathogenic 807659 rs1596348443 15:89860673-89860676 15:89317442-89317445
15 POLG NM_002693.2(POLG):c.2515del (p.Ala839fs) Deletion Pathogenic 807660 rs1596352895 15:89865050-89865050 15:89321819-89321819
16 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792
17 POLG NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) SNV Pathogenic 279982 rs769827124 15:89865980-89865980 15:89322749-89322749
18 POLG NM_002693.3(POLG):c.2243G>C SNV Pathogenic 13507 rs113994097 15:89866657-89866657 15:89323426-89323426
19 POLG NM_001126131.2(POLG):c.1491G>C (p.Gln497His) SNV Pathogenic 13510 rs121918052 15:89870237-89870237 15:89327006-89327006
20 POLG NM_002693.2(POLG):c.678G>C (p.Gln226His) SNV Likely pathogenic 206581 rs147282197 15:89873489-89873489 15:89330258-89330258
21 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460
22 POLG NM_002693.2(POLG):c.1362G>T (p.Glu454Asp) SNV Likely pathogenic 807661 rs1596358408 15:89870469-89870469 15:89327238-89327238
23 POLG NM_002693.3(POLG):c.3286C>T SNV Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737
24 POLG NM_002693.2(POLG):c.2792T>G (p.Leu931Arg) SNV Likely pathogenic 694424 rs1484810169 15:89864186-89864186 15:89320955-89320955
25 POLG NM_002693.3(POLG):c.924G>T (p.Gln308His) SNV Likely pathogenic 268096 rs745539599 15:89872273-89872273 15:89329042-89329042
26 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Likely pathogenic 195182 rs765472726 15:89876954-89876954 15:89333723-89333723
27 POLG NM_002693.3(POLG):c.2243G>C SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426
28 TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 10:102753720-102753720 10:100993963-100993963
29 PRICKLE2 NM_198859.4(PRICKLE2):c.443G>A (p.Arg148His) SNV Uncertain significance 30731 rs387906988 3:64142995-64142995 3:64157319-64157319
30 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Uncertain significance 65665 rs61752783 15:89870178-89870178 15:89326947-89326947
31 POLG NM_002693.3(POLG):c.1811C>T (p.Ala604Val) SNV Uncertain significance 982840 15:89868819-89868819 15:89325588-89325588
32 TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 10:102753118-102753118 10:100993361-100993361
33 TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 10:102753608-102753608 10:100993851-100993851
34 TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 10:102753613-102753613 10:100993856-100993856
35 TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 10:102753819-102753819 10:100994062-100994062
36 TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 10:102754036-102754036 10:100994279-100994279
37 TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 10:102753828-102753828 10:100994071-100994071
38 TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 10:102747384-102747384 10:100987627-100987627
39 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Uncertain significance 214185 rs863223921 10:102749163-102749163 10:100989406-100989406
40 TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 10:102750630-102750630 10:100990873-100990873
41 TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 10:102748880-102748880 10:100989123-100989123
42 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Uncertain significance 206516 rs138457939 15:89866693-89866693 15:89323462-89323462
43 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Uncertain significance 206596 rs145843073 15:89870429-89870429 15:89327198-89327198
44 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 10:102747346-102747346 10:100987589-100987589
45 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 10:102747550-102747550 10:100987793-100987793
46 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 10:102747664-102747664 10:100987907-100987907
47 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Uncertain significance 632124 rs758026634 10:102749037-102749037 10:100989280-100989280
48 TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 10:102750280-102750280 10:100990523-100990523
49 TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 10:102753038-102753038 10:100993281-100993281
50 TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 10:102753515-102753515 10:100993758-100993758

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

73
# 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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 TWNK SSBP1 POLG2
2
Show member pathways
10.28 SUCLG1 SUCLA2
3 9.9 RRM2B POLG

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 matrix GO:0005759 9.73 TWNK SUCLG1 SUCLA2 SSBP1 POLG2 DGUOK
2 mitochondrion GO:0005739 9.44 TWNK SUCLG1 SUCLA2 SSBP1 SPG7 SLC25A4
3 mitochondrial nucleoid GO:0042645 9.35 TWNK SSBP1 POLG2 POLG DNA2
4 gamma DNA polymerase complex GO:0005760 9.33 POLG2 POLG DNA2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.56 TWNK SSBP1 SPG7 POLG2
2 DNA-dependent DNA replication GO:0006261 9.43 POLG2 POLG
3 DNA replication GO:0006260 9.43 TWNK SSBP1 RRM2B POLG2 POLG DNA2
4 mitochondrion morphogenesis GO:0070584 9.4 SSBP1 POLG2
5 DNA unwinding involved in DNA replication GO:0006268 9.37 TWNK SSBP1
6 mitochondrial genome maintenance GO:0000002 9.33 TYMP SLC25A4 MPV17
7 DNA replication, removal of RNA primer GO:0043137 9.32 RNASEH1 DNA2
8 mitochondrial DNA replication GO:0006264 9.1 TWNK SSBP1 RRM2B POLG2 POLG DNA2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.26 POLG2 POLG
2 5'-3' DNA helicase activity GO:0043139 9.16 TWNK DNA2
3 succinate-CoA ligase (GDP-forming) activity GO:0004776 8.96 SUCLG1 SUCLA2
4 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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