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SCAE
MCID: SNS008
MIFTS: 52

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SCAE)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

About this section

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

Name: Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 58 54 30 6 74
Mitochondrial Recessive Ataxia Syndrome 58 76 38 13 41
Epilepsy, Progressive Myoclonic 5 76 30 13 6
Sando 58 54 60 76
Spinocerebellar Ataxia with Epilepsy 60 76 74
Miras 60 76
Mscae 60 76
Scae 60 76
Epm5 60 76
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive 58
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive 76
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 60
Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy 76
Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis 76
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome 76
Mitochondrial Spinocerebellar Ataxia with Epilepsy 60
Epilepsy, Myoclonic, Progressive, Type 5 41
Recessive Mitochondrial Ataxia Syndrome 60
Progressive Myoclonic Epilepsy Type 5 60
Progressive Myoclonus Epilepsy Type 5 60
Epilepsy, Progressive Myoclonic, 5 74
Ataxia Neuropathy Spectrum 74
Pme Type 5 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Inborn errors of metabolism


Sources

Summaries for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

About this section
NIH Rare Diseases : 54 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). The drugs Ezetimibe and Naloxone have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and spinal cord, and related phenotypes are ptosis and nystagmus

OMIM : 58 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 : 76 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.

Sources

Related Diseases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy myopathy sensory ataxia 32.8 MIR6766 POLG
2 ataxia neuropathy spectrum 32.5 MRPL43 POLG TWNK
3 mitochondrial dna depletion syndrome 7 31.9 MRPL43 TWNK
4 chronic progressive external ophthalmoplegia 30.2 POLG TWNK
5 leprosy 1 11.1
6 neuropathy 10.6
7 rheumatoid arthritis 10.3
8 arthritis 10.3
9 ataxia and polyneuropathy, adult-onset 10.2
10 lung cancer 10.2
11 mitochondrial dna depletion syndrome 1 10.1 MIR6766 POLG
12 mitochondrial dna depletion syndrome 10.1 POLG TWNK
13 mitochondrial dna depletion syndrome 4a 10.1 POLG TWNK
14 autosomal dominant cerebellar ataxia 10.1
15 diabetic polyneuropathy 10.1 POLG TWNK
16 deafness-infertility syndrome 10.1
17 movement disease 10.1
18 dysphagia 10.1
19 colorectal cancer 10.0
20 phenylketonuria 10.0
21 atrioventricular block 10.0
22 pseudohermaphroditism 10.0
23 depression 10.0
24 3-methylglutaconic aciduria, type v 10.0 POLG TWNK
25 ocular motility disease 10.0 POLG TWNK
26 myoclonic epilepsy associated with ragged-red fibers 10.0 POLG TWNK
27 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 POLG TWNK
28 axonal neuropathy 10.0 POLG TWNK
29 kearns-sayre syndrome 9.9 POLG TWNK
30 mitochondrial metabolism disease 9.9 POLG TWNK
31 perrault syndrome 5 9.9 MRPL43 TWNK
32 perrault syndrome 9.8 MRPL43 TWNK
33 mitochondrial dna depletion syndrome 4b 9.8 FANCI MIR6766 POLG
34 autosomal recessive cerebellar ataxia 9.8 MRPL43 TWNK
35 muscular disease 9.7 POLG TWNK
36 autosomal dominant progressive external ophthalmoplegia 9.0 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
Sources

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

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

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 seizures 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001250
4 dysarthria 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001260
5 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
6 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
7 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
8 cognitive impairment 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0100543
9 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
10 hashimoto thyroiditis 60 33 frequent (33%) Frequent (79-30%) HP:0000872
11 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
12 sensory axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003390
13 ophthalmoparesis 60 33 frequent (33%) Frequent (79-30%) HP:0000597
14 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
15 ragged-red muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003200
16 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
17 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
18 areflexia 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001284
19 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
20 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
21 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
22 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
23 increased serum pyruvate 60 33 frequent (33%) Frequent (79-30%) HP:0003542
24 sensory ataxic neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003434
25 vestibular dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0001751
26 impaired vibratory sensation 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002495
27 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
28 st segment elevation 60 33 frequent (33%) Frequent (79-30%) HP:0012251
29 impaired distal proprioception 60 33 frequent (33%) Frequent (79-30%) HP:0006858
30 limb dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0002406
31 positive romberg sign 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002403
32 atrophy/degeneration involving the spinal cord 60 33 frequent (33%) Frequent (79-30%) HP:0007344
33 abnormal thalamic mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012696
34 upgaze palsy 60 33 frequent (33%) Frequent (79-30%) HP:0025331
35 abnormal morphology of the cerebellar cortex 60 33 frequent (33%) Frequent (79-30%) HP:0031422
36 abnormality of central motor conduction 60 33 frequent (33%) Frequent (79-30%) HP:0012079
37 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
38 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
39 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
40 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
41 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
42 gastroparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002578
43 intestinal pseudo-obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0004389
44 ataxia 60 Frequent (79-30%)
45 sensorineural hearing impairment 33 HP:0000407
46 abnormality of movement 60 Frequent (79-30%)
47 peripheral neuropathy 60 Frequent (79-30%)
48 dysmetria 60 Frequent (79-30%)
49 progressive external ophthalmoplegia 33 HP:0000590
50 progressive gait ataxia 33 HP:0007240

Symptoms via clinical synopsis from OMIM:

58
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

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


ophthalmoplegia
Sources

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

About this section

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

(show top 50) (show all 210)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4 163222-33-1 150311
2
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Codeine Approved, Illicit Phase 4 76-57-3 5284371
5
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2 7440-70-2 271
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
9
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
10 Vitamins Phase 4,Phase 3,Not Applicable
11 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
12 Nutrients Phase 4,Phase 3
13 Trace Elements Phase 4,Phase 3
14 Micronutrients Phase 4,Phase 3
15 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
16 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
17 Antiviral Agents Phase 4,Not Applicable
18 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
19 Antimetabolites Phase 4,Not Applicable
20 Rosuvastatin Calcium Phase 4 147098-20-2
21 Anticholesteremic Agents Phase 4
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
23 Hypolipidemic Agents Phase 4
24 Calcium, Dietary Phase 4,Phase 3,Phase 2
25 Lipid Regulating Agents Phase 4
26 Ophthalmic Solutions Phase 4
27 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
28 Ergocalciferols Phase 4
29 Bone Density Conservation Agents Phase 4,Phase 3
30 Vitamin D2 Phase 4
31 Calciferol Phase 4,Phase 3
32 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Adjuvants, Immunologic Phase 4
34 Broncho-Vaxom Phase 4
35 Analgesics, Non-Narcotic Phase 4,Not Applicable
36 Analgesics, Opioid Phase 4
37 Antitussive Agents Phase 4
38 Antipyretics Phase 4,Not Applicable
39 Analgesics Phase 4,Not Applicable
40 Respiratory System Agents Phase 4
41 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
42 Narcotic Antagonists Phase 4
43 Narcotics Phase 4
44 valacyclovir Phase 4
45
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
46
Hesperidin Approved, Investigational Phase 3 520-26-3 53477767
47 Orange Approved Phase 3
48
Hydrocortisone Approved, Vet_approved Phase 3,Not Applicable 50-23-7 5754
49
Hydrocortisone acetate Approved, Vet_approved Phase 3,Not Applicable 50-03-3
50
Paclitaxel Approved, Vet_approved Phase 3,Not Applicable 33069-62-4 36314

Interventional clinical trials:

(show top 50) (show all 110)
# Name Status NCT ID Phase Drugs
1 Rosuvastatin/Ezetimibe Versus Rosuvastatin in ASCVD Patients With Type 2 DM Recruiting NCT03597412 Phase 4 Rosuvamibe;Monorova
2 Early Albumin Resuscitation During Septic Shock Completed NCT00327704 Phase 4 albumin;saline
3 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
4 Effect of Vitamin D Supplementation on Fasting Glucose and Interleukin-10 (IL-10) in Arab Women With Impaired Fasting Glucose Completed NCT00877123 Phase 4 Oral vitamin D 100,000 IU;Placebo
5 Advanced Immunological Approach in COPD Exacerbation Completed NCT02417649 Phase 4
6 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4 Codeine/paracetamol;Oxycodone/naloxone
7 Zoster Eye Disease Study Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
8 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
9 Beneficial Impact of Orange Juice Consumption on Risk Factors Associated With Cardiovascular Diseases Unknown status NCT02479568 Phase 3
10 The Assessment of Preoperative Psychological Intervention on Stress in Women With Gynecological Malignancies Unknown status NCT00726635 Phase 3
11 Community-Acquired Pneumonia : Evaluation of Corticosteroids Unknown status NCT02517489 Phase 3 Hydrocortisone;Placebo
12 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3 DDP733
13 Patency and Safety of the Drug Eluting Covered Biliary Stent Comparing to the Common Covered Biliary Stent Completed NCT01512563 Phase 3
14 Efficacy and Safety of the Paclitaxel Eluting Covered Biliary Stent to the Common Covered Metallic Biliary Stent Terminated NCT01413386 Phase 3
15 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3 Mirabegron
16 MidregiOn Proatrial Natriuretic Peptide to Guide SEconadry Stroke Prevention Not yet recruiting NCT03961334 Phase 3 Rivaroxaban;Dabigatran;Apixaban;Edoxaban;Aspirin;Clopidogrel
17 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
18 Immunogenicity and Safety of an Adjuvanted Inactivated Subunit Influenza Vaccine to Those of a Non-adjuvanted Inactivated Subunit Influenza Vaccine, When Administered to Adults Affected by Chronic Diseases Completed NCT00519064 Phase 3
19 Immunogenicity and Safety of Meningococcal ACWY Conjugate Vaccine in Healthy Children, Adolescents and Adults in Russia Completed NCT01725217 Phase 3
20 A Study to Evaluate the Efficacy and Safety of Faricimab (RO6867461) in Participants With Diabetic Macular Edema (YOSEMITE) Recruiting NCT03622580 Phase 3 Aflibercept;Faricimab;Sham Procedure
21 Efficacy/Safety Study of Brisdelleâ„¢ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3 Brisdelle (paroxetine mesylate);Placebo capsules
22 A Long-term Safety Study of Intranasal Esketamine in Treatment-resistant Depression Recruiting NCT02782104 Phase 3 Intranasal Esketamine
23 Non-inferiority of Lower Dose Calcium Supplementation During Pregnancy Recruiting NCT03350516 Phase 3
24 Efficacy & Safety of RPh201 Treatment in Patients With Previous Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03547206 Phase 3 RPh201
25 Phase 2/3, Randomized, Double-Masked, Sham-Controlled Trial of QPI-1007 in Subjects With Acute Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT02341560 Phase 2, Phase 3 QPI-1007 Injection - 1.5 mg;QPI-1007 Injection - 3.0 mg
26 Quantum Natural Family Planning Pilot Not yet recruiting NCT03908697 Phase 1, Phase 2
27 Influence of Cincalcet on Cognitive Functions in Healthy Human Subjects Completed NCT01599962 Phase 2 Cinacalcet;Placebo
28 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
29 A Phase 2 Study of Cyclo-Z in Subjects With Type 2 Diabetes Active, not recruiting NCT03560271 Phase 2 Cyclo-Z
30 Study of CTS-1027 in Hepatitis C Patients Completed NCT00570336 Phase 2 CTS-1027
31 Immunogenicity, Tolerability and Safety of One or Two Doses of an Adjuvanted Swine-origin A H1N1 Influenza Vaccine in Healthy Subjects 18 or More Years of Age Both Vaccinated and Not Yet Vaccinated Against Seasonal Influenza 2009/10 Completed NCT00992212 Phase 2
32 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
33 Efficacy Study of VA106483 in Males With Nocturia. Completed NCT01038843 Phase 2 VA106483
34 Red-fleshed Apple as a Novel Anthocyanin-biofortified Food to Improve Cardiometabolic Risk Factors. Not yet recruiting NCT03795324 Phase 2
35 Combination Therapy With Pembrolizumab and sEphB4-HSA in Previously Treated Urothelial Carcinoma Recruiting NCT02717156 Phase 2
36 Effect of Levosulpiride on Retinal Alterations in Patients With Diabetic Retinopathy and Diabetic Macular Edema Recruiting NCT03161652 Phase 2 DME lactose pill;DME levosulpiride;DR lactose pill;DR levosulpiride;DR vitrectomy lactose pill;DR vitrectomy levosulpiride;DME plus ranibizumab lactose pill;DME plus ranibizumab levosulpiride
37 An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 Not yet recruiting NCT03845712 Phase 2 MT1621
38 QUILT-2.023: A Study of ALT-803, a Fusion Protein Activator of Natural Killer and T-Cells, in Combination With Pembrolizumab vs Pembrolizumab Alone as First-Line Treatment for Patients With Metastatic NSCLC. Recruiting NCT03520686 Phase 2 ALT-803 + Pembrolizumab;Pembrolizumab
39 QUILT-3.055: A Study of ALT-803 in Combination With PD-1/PD-L1 Checkpoint Inhibitor in Patients With Advanced Cancer Recruiting NCT03228667 Phase 2 ALT-803 + Pembrolizumab;ALT-803 + Nivolumab;ALT-803 + Atezolizumab;ALT-803 + Avelumab
40 QUILT-3.014: A Trial of ABI-011 Administered Weekly in Patients With Advanced Solid Tumors or Lymphomas Recruiting NCT02582827 Phase 1 ABI-011
41 Altering Memories That Increase Risk of Relapse in Alcohol Use Disorders Recruiting NCT03732248 Phase 1 Rapamycin;Placebo
42 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627 Not Applicable Nevirapine;efavirenz, protease inhibitors
43 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172 Not Applicable
44 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
45 Effects of Obesity Treatments on Food Preferences and Metabolism Unknown status NCT01724060
46 Investigation of the Effects of Bariatric Surgery on Taste Reward in Humans Unknown status NCT01531738
47 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647 Not Applicable citalopram;1 ml 0.9 % NaCl
48 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415 Not Applicable
49 The Effect of Preventive Use of Ondansetron in the Cesarean Section Under Spinal Anesthesia Unknown status NCT02883192 Not Applicable Ondansetron;Placebo
50 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia Unknown status NCT02879292

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

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Genetic Tests for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

# Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 30 POLG TWNK
2 Epilepsy, Progressive Myoclonic 5 30
Sources

Anatomical Context for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

42
Skeletal Muscle, Bone, Spinal Cord, Prostate, Thyroid, Cortex, Endothelial
Sources

Publications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

About this section

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

(show all 25)
# Title Authors Year
1
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. ( 27552387 )
2016
2
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. ( 26942291 )
2016
3
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. ( 26942292 )
2016
4
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed. ( 25586537 )
2015
5
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. ( 23524600 )
2013
6
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia. ( 22166854 )
2012
7
Mutations in prickle orthologs cause seizures in flies, mice, and humans. ( 21276947 )
2011
8
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. ( 19813183 )
2010
9
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. ( 19251978 )
2009
10
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. ( 18775955 )
2008
11
Do carriers of POLG mutation W748S have disease manifestations? ( 17894835 )
2007
12
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. ( 17426723 )
2007
13
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. ( 16080118 )
2005
14
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. ( 15824347 )
2005
15
POLG mutations in Alpers syndrome. ( 16177225 )
2005
16
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. ( 16130100 )
2005
17
POLG mutations and Alpers syndrome. ( 15929042 )
2005
18
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. ( 15477547 )
2004
19
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. ( 15122711 )
2004
20
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. ( 14745080 )
2004
21
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. ( 12565911 )
2003
22
Patient homozygous for a recessive POLG mutation presents with features of MERRF. ( 14694057 )
2003
23
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. ( 11431686 )
2001
24
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. ( 11571332 )
2001
25
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. ( 632821 )
1978
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Variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

76
# 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 182)
# 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.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918044 GRCh37 Chromosome 15, 89872286: 89872286
6 POLG NM_002693.2(POLG): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918044 GRCh38 Chromosome 15, 89329055: 89329055
7 POLG NM_002693.2(POLG): c.1879C> T (p.Arg627Trp) single nucleotide variant Pathogenic rs121918046 GRCh37 Chromosome 15, 89868751: 89868751
8 POLG NM_002693.2(POLG): c.1879C> T (p.Arg627Trp) single nucleotide variant Pathogenic rs121918046 GRCh38 Chromosome 15, 89325520: 89325520
9 POLG NM_002693.2(POLG): c.2794C> T (p.His932Tyr) single nucleotide variant Pathogenic rs121918048 GRCh37 Chromosome 15, 89864184: 89864184
10 POLG NM_002693.2(POLG): c.2794C> T (p.His932Tyr) single nucleotide variant Pathogenic rs121918048 GRCh38 Chromosome 15, 89320953: 89320953
11 POLG NM_002693.2(POLG): c.3151G> C (p.Gly1051Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918049 GRCh37 Chromosome 15, 89862284: 89862284
12 POLG NM_002693.2(POLG): c.3151G> C (p.Gly1051Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918049 GRCh38 Chromosome 15, 89319053: 89319053
13 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
14 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
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.1550G> T (p.Gly517Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61752783 GRCh37 Chromosome 15, 89870178: 89870178
24 POLG NM_002693.2(POLG): c.1550G> T (p.Gly517Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61752783 GRCh38 Chromosome 15, 89326947: 89326947
25 POLG NM_002693.2(POLG): c.32G> A (p.Gly11Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765472726 GRCh37 Chromosome 15, 89876954: 89876954
26 POLG NM_002693.2(POLG): c.32G> A (p.Gly11Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765472726 GRCh38 Chromosome 15, 89333723: 89333723
27 POLG NM_002693.2(POLG): c.3176A> G (p.Asn1059Ser) single nucleotide variant Uncertain significance rs201192905 GRCh37 Chromosome 15, 89862259: 89862259
28 POLG NM_002693.2(POLG): c.3176A> G (p.Asn1059Ser) single nucleotide variant Uncertain significance rs201192905 GRCh38 Chromosome 15, 89319028: 89319028
29 POLG NM_002693.2(POLG): c.3425G> A (p.Arg1142Gln) single nucleotide variant Uncertain significance rs536732038 GRCh37 Chromosome 15, 89861829: 89861829
30 POLG NM_002693.2(POLG): c.3425G> A (p.Arg1142Gln) single nucleotide variant Uncertain significance rs536732038 GRCh38 Chromosome 15, 89318598: 89318598
31 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh37 Chromosome 15, 89871763: 89871763
32 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh38 Chromosome 15, 89328532: 89328532
33 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh37 Chromosome 3, 64145632: 64145632
34 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh38 Chromosome 3, 64159956: 64159956
35 PRICKLE2 NM_198859.3(PRICKLE2): c.1527G> A (p.Glu509=) single nucleotide variant Benign rs144455095 GRCh37 Chromosome 3, 64132639: 64132639
36 PRICKLE2 NM_198859.3(PRICKLE2): c.1527G> A (p.Glu509=) single nucleotide variant Benign rs144455095 GRCh38 Chromosome 3, 64146963: 64146963
37 PRICKLE2 NM_198859.3(PRICKLE2): c.594C> T (p.Cys198=) single nucleotide variant Likely benign rs367680077 GRCh37 Chromosome 3, 64142844: 64142844
38 PRICKLE2 NM_198859.3(PRICKLE2): c.594C> T (p.Cys198=) single nucleotide variant Likely benign rs367680077 GRCh38 Chromosome 3, 64157168: 64157168
39 PRICKLE2 NM_198859.3(PRICKLE2): c.445G> T (p.Ala149Ser) single nucleotide variant Uncertain significance rs202025796 GRCh37 Chromosome 3, 64142993: 64142993
40 PRICKLE2 NM_198859.3(PRICKLE2): c.445G> T (p.Ala149Ser) single nucleotide variant Uncertain significance rs202025796 GRCh38 Chromosome 3, 64157317: 64157317
41 PRICKLE2 NM_198859.3(PRICKLE2): c.2455C> T (p.Pro819Ser) single nucleotide variant Uncertain significance rs972442832 GRCh37 Chromosome 3, 64084807: 64084807
42 PRICKLE2 NM_198859.3(PRICKLE2): c.2455C> T (p.Pro819Ser) single nucleotide variant Uncertain significance rs972442832 GRCh38 Chromosome 3, 64099131: 64099131
43 PRICKLE2 NM_198859.3(PRICKLE2): c.471G> A (p.Pro157=) single nucleotide variant Likely benign rs777067889 GRCh37 Chromosome 3, 64142967: 64142967
44 PRICKLE2 NM_198859.3(PRICKLE2): c.471G> A (p.Pro157=) single nucleotide variant Likely benign rs777067889 GRCh38 Chromosome 3, 64157291: 64157291
45 PRICKLE2 NM_198859.3(PRICKLE2): c.438G> A (p.Ala146=) single nucleotide variant Benign/Likely benign rs149786687 GRCh37 Chromosome 3, 64143000: 64143000
46 PRICKLE2 NM_198859.3(PRICKLE2): c.438G> A (p.Ala146=) single nucleotide variant Benign/Likely benign rs149786687 GRCh38 Chromosome 3, 64157324: 64157324
47 POLG NM_002693.2(POLG): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs775576189 GRCh38 Chromosome 15, 89327324: 89327324
48 POLG NM_002693.2(POLG): c.3317T> C (p.Val1106Ala) single nucleotide variant Uncertain significance rs1354582663 GRCh38 Chromosome 15, 89318706: 89318706
49 POLG NM_002693.2(POLG): c.3317T> C (p.Val1106Ala) single nucleotide variant Uncertain significance rs1354582663 GRCh37 Chromosome 15, 89861937: 89861937
50 PRICKLE2 NM_198859.3(PRICKLE2): c.400G> A (p.Gly134Arg) single nucleotide variant Uncertain significance rs775889804 GRCh37 Chromosome 3, 64143038: 64143038
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Expression for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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

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GO Terms for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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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
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Sources for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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