SANDO
MCID: MTC057
MIFTS: 48

Mitochondrial Recessive Ataxia Syndrome (SANDO) malady

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

Aliases & Classifications for Mitochondrial Recessive Ataxia Syndrome

Aliases & Descriptions for Mitochondrial Recessive Ataxia Syndrome:

Name: Mitochondrial Recessive Ataxia Syndrome 54 66 13
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 54 50 69
Spinocerebellar Ataxia with Epilepsy 56 66 69
Sando 50 56 66
Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis 66 29
Miras 56 66
Mscae 56 66
Scae 56 66
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive 66
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 56
Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy 66
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome 66
Mitochondrial Spinocerebellar Ataxia with Epilepsy 56
Recessive Mitochondrial Ataxia Syndrome 56
Epilepsy, Progressive Myoclonic, 5 69
Epilepsy, Progressive Myoclonic 5 66
Ataxia Neuropathy Spectrum 69
Epm5 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
mitochondrial recessive ataxia syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability adult onset


Classifications:



External Ids:

OMIM 54 607459
MESH via Orphanet 43 C537583
UMLS via Orphanet 70 C1843851
ICD10 via Orphanet 34 G71.3 G11.8

Summaries for Mitochondrial Recessive Ataxia Syndrome

UniProtKB/Swiss-Prot : 66 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 : Mitochondrial Recessive Ataxia Syndrome, also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, is related to epilepsy, progressive myoclonic 5 and ataxia neuropathy spectrum, and has symptoms including seizures, myoclonus and ptosis. An important gene associated with Mitochondrial Recessive Ataxia Syndrome is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Acetaminophen and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are Dynamic nuclei (hole, folded or small irregular) and Effect on mitosis

OMIM : 54 SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy,... (607459) more...

Related Diseases for Mitochondrial Recessive Ataxia Syndrome

Graphical network of the top 20 diseases related to Mitochondrial Recessive Ataxia Syndrome:



Diseases related to Mitochondrial Recessive Ataxia Syndrome

Symptoms & Phenotypes for Mitochondrial Recessive Ataxia Syndrome

Symptoms by clinical synopsis from OMIM:

607459

Clinical features from OMIM:

607459

Human phenotypes related to Mitochondrial Recessive Ataxia Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 ptosis 32 HP:0000508
4 nystagmus 32 HP:0000639
5 depression 32 HP:0000716
6 dysarthria 32 HP:0001260
7 cataract 32 HP:0000518
8 sensorineural hearing impairment 32 HP:0000407
9 cognitive impairment 32 HP:0100543
10 sensory axonal neuropathy 32 HP:0003390
11 migraine 32 HP:0002076
12 increased serum lactate 32 HP:0002151
13 gastroparesis 32 HP:0002578
14 ragged-red muscle fibers 32 HP:0003200
15 progressive external ophthalmoplegia 32 HP:0000590
16 areflexia 32 HP:0001284
17 hyporeflexia 32 HP:0001265
18 mildly elevated creatine phosphokinase 32 HP:0008180
19 dilated cardiomyopathy 32 HP:0001644
20 sensory ataxic neuropathy 32 HP:0003434
21 proximal muscle weakness 32 HP:0003701
22 vestibular dysfunction 32 HP:0001751
23 increased variability in muscle fiber diameter 32 HP:0003557
24 intestinal pseudo-obstruction 32 HP:0004389
25 muscle fiber necrosis 32 HP:0003713
26 progressive gait ataxia 32 HP:0007240
27 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
28 decreased activity of cytochrome c oxidase in muscle tissue 32 HP:0003688
29 multiple mitochondrial dna deletions 32 HP:0003689
30 impaired distal proprioception 32 HP:0006858
31 impaired distal vibration sensation 32 HP:0006886
32 positive romberg sign 32 HP:0002403
33 atrophy/degeneration involving the spinal cord 32 HP:0007344

UMLS symptoms related to Mitochondrial Recessive Ataxia Syndrome:


ophthalmoplegia

GenomeRNAi Phenotypes related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.13 POLG PRICKLE2 TWNK
2 Effect on mitosis GR00257-A-2 8.62 POLG PRICKLE2

Drugs & Therapeutics for Mitochondrial Recessive Ataxia Syndrome

Drugs for Mitochondrial Recessive Ataxia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 142)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3
Glucosamine Approved, Nutraceutical Phase 4 3416-24-8 439213
4 Trace Elements Phase 4,Phase 3
5 Peripheral Nervous System Agents Phase 4,Phase 3
6 Vitamins Phase 4,Phase 3
7 Respiratory System Agents Phase 4,Phase 3
8 Micronutrients Phase 4,Phase 3
9 vitamin d Phase 4
10 Analgesics Phase 4,Phase 3
11 Adjuvants, Immunologic Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Ergocalciferols Phase 4
14 Fibrinolytic Agents Phase 4
15 Antipyretics Phase 4
16 Bone Density Conservation Agents Phase 4
17 Broncho-Vaxom Phase 4
18 Glucuronyl glucosamine glycan sulfate Phase 4
19 Hypoglycemic Agents Phase 4
20 Hypolipidemic Agents Phase 4
21 Anticoagulants Phase 4
22 Lipid Regulating Agents Phase 4
23 Antimetabolites Phase 4
24 Central Nervous System Depressants Phase 4,Phase 2
25 Vitamin D2 Nutraceutical Phase 4
26 Calciferol Nutraceutical Phase 4
27
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
28
Phenylephrine Approved Phase 3 59-42-7 6041
29
Oxymetazoline Approved Phase 3 1491-59-4 4636
30
Ephedrine Approved Phase 3 299-42-3 9294
31
Citalopram Approved Phase 3 59729-33-8 2771
32
Pseudoephedrine Approved Phase 3 90-82-4 7028
33
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
34
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
35
Mirabegron Approved Phase 3 223673-61-8
36
Norepinephrine Approved Phase 3 51-41-2 439260
37
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
38
Sertraline Approved Phase 3 79617-96-2 68617
39
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
41
Butyric Acid Experimental Phase 3 107-92-6 264
42
Serotonin Phase 3 50-67-9 5202
43 Mydriatics Phase 3
44 Serotonin Agents Phase 3
45 Adrenergic Agents Phase 3
46 Serotonin Uptake Inhibitors Phase 3
47 Nasal Decongestants Phase 3
48 Adrenergic Agonists Phase 3
49 Adrenergic alpha-Agonists Phase 3
50 Neurotransmitter Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 79)
id Name Status NCT ID Phase
1 Early Albumin Resuscitation During Septic Shock Completed NCT00327704 Phase 4
2 Effect of Vitamin D Supplementation on Fasting Glucose and Interleukin-10 (IL-10) in Arab Women With Impaired Fasting Glucose Completed NCT00877123 Phase 4
3 Advanced Immunological Approach in COPD Exacerbation Completed NCT02417649 Phase 4
4 Prospective Evaluation of the QoL of Patients With PTS Who Receive Compression Therapy and Sulodexide Recruiting NCT02512601 Phase 4
5 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4
6 Efficacy and Safety of the Paclitaxel Eluting Covered Biliary Stent to the Common Covered Metallic Biliary Stent Unknown status NCT01413386 Phase 3
7 Study for the Management of Pediatric Chronic Rhinosinusitis With or Without Balloon Sinuplasty Unknown status NCT01990820 Phase 3
8 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
9 The Assessment of Preoperative Psychological Intervention on Stress in Women With Gynecological Malignancies Unknown status NCT00726635 Phase 3
10 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
11 Patency and Safety of the Drug Eluting Covered Biliary Stent Comparing to the Common Covered Biliary Stent Completed NCT01512563 Phase 3
12 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3
13 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
14 Immunogenicity and Safety of Meningococcal ACWY Conjugate Vaccine in Healthy Children, Adolescents and Adults in Russia Completed NCT01725217 Phase 3
15 Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3
16 A Long-term Safety Study of Intranasal Esketamine in Treatment-resistant Depression Recruiting NCT02782104 Phase 3
17 A Study of Intranasal Esketamine Plus an Oral Antidepressant for Relapse Prevention in Adult Participants With Treatment-resistant Depression Recruiting NCT02493868 Phase 3
18 A Study to Evaluate the Efficacy, Safety, and Tolerability of Flexible Doses of Intranasal Esketamine Plus an Oral Antidepressant in Adult Participants With Treatment-resistant Depression Recruiting NCT02418585 Phase 3
19 Community-Acquired Pneumonia : Evaluation of Corticosteroids Recruiting NCT02517489 Phase 3
20 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
21 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
22 Influence of Cincalcet on Cognitive Functions in Healthy Human Subjects Completed NCT01599962 Phase 2
23 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
24 Study of CTS-1027 in Hepatitis C Patients Completed NCT00570336 Phase 2
25 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2
26 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
27 Efficacy Study of VA106483 in Males With Nocturia. Completed NCT01038843 Phase 2
28 Effect of Levosulpiride on Retinal Alterations in Patients With Diabetic Retinopathy and Diabetic Macular Edema Recruiting NCT03161652 Phase 2
29 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627
30 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172
31 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
32 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647
33 CAre of Patients With PArenteral Nutrition At Home Unknown status NCT01545063
34 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415
35 Comparison of Drug Eluting Stent and Covered Metal Stent in Malignant Biliary Obstruction (MIRA III) Completed NCT02460432
36 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
37 Patient Activation Intervention in Improving Screening Rates for Colorectal Cancer Completed NCT01801059
38 Apps to Reduce the Impact That Adverse Events Among Health Professionals Completed NCT02410408
39 A Spanish Pillbox App for Elderly Patients Taking Multiple Medications Completed NCT02071498
40 Epidemiological Study of the Prevalence of Age-Related Macular Degeneration in Portugal Completed NCT01298674
41 Preemptive Analgesia Using Intravenous Paracetamol Completed NCT02884921
42 Evaluation of Safety and Efficacy of the 3F Applicator (A3F) for Treatment of Facial Wrinkles Completed NCT01566396
43 Evaluation of Safety and Efficacy of the Apollo™ System for Treatment of Wrinkles and Rhytides Completed NCT01283711
44 A Study of the Efficacy of the Code Stroke in Spain Completed NCT02647957
45 Circulating Cell-free DNA in Metastatic Melanoma Patient: Mutational Analyses in Consecutive Measurement Before and After Chemotherapy Completed NCT02133222
46 Copeptin for Risk Stratification in Acute Stroke Patients: the CoRisk Study Completed NCT00878813
47 Donepezil Effect on Visual Attention and Training Completed NCT01738295
48 Identification of Biomarkers Sensitive to Disease Progression in Patients With Mild Cognitive Impairment Completed NCT01425957
49 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
50 A Study of the MIRA System for Evaluating Women at High Risk of Breast Cancer Recruiting NCT02777164

Search NIH Clinical Center for Mitochondrial Recessive Ataxia Syndrome

Genetic Tests for Mitochondrial Recessive Ataxia Syndrome

Genetic tests related to Mitochondrial Recessive Ataxia Syndrome:

id Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 29

Anatomical Context for Mitochondrial Recessive Ataxia Syndrome

MalaCards organs/tissues related to Mitochondrial Recessive Ataxia Syndrome:

39
Skeletal Muscle, Spinal Cord

Publications for Mitochondrial Recessive Ataxia Syndrome

Articles related to Mitochondrial Recessive Ataxia Syndrome:

id Title Authors Year
1
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed. ( 25586537 )
2015
2
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia. ( 22166854 )
2012
3
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. ( 18775955 )
2008

Variations for Mitochondrial Recessive Ataxia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Recessive Ataxia Syndrome:

66
id 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.Trp748Ser VAR_023673 rs113994097
5 POLG p.His932Tyr VAR_023679 rs121918048
6 POLG p.Gly1051Arg VAR_023684 rs121918049
7 POLG p.Gly517Val VAR_058879 rs61752783
8 POLG p.Arg627Gln VAR_058883 rs375305567
9 POLG p.Arg807Cys VAR_058887 rs769827124

ClinVar genetic disease variations for Mitochondrial Recessive Ataxia Syndrome:

6
id 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 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
3 POLG NM_002693.2(POLG): c.1879C> T (p.Arg627Trp) single nucleotide variant Pathogenic rs121918046 GRCh37 Chromosome 15, 89868751: 89868751
4 POLG NM_002693.2(POLG): c.2794C> T (p.His932Tyr) single nucleotide variant Pathogenic rs121918048 GRCh37 Chromosome 15, 89864184: 89864184
5 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
6 POLG NM_002693.2(POLG): c.2554C> T (p.Arg852Cys) single nucleotide variant Pathogenic rs144500145 GRCh38 Chromosome 15, 89321780: 89321780
7 PRICKLE2 NM_198859.3(PRICKLE2): c.380delG (p.Gly127Glufs) deletion Pathogenic rs797045065 GRCh37 Chromosome 3, 64145632: 64145632
8 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638

Expression for Mitochondrial Recessive Ataxia Syndrome

Search GEO for disease gene expression data for Mitochondrial Recessive Ataxia Syndrome.

Pathways for Mitochondrial Recessive Ataxia Syndrome

GO Terms for Mitochondrial Recessive Ataxia Syndrome

Cellular components related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

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

Biological processes related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

id 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 Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

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

Sources for Mitochondrial Recessive Ataxia Syndrome

3 CDC
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28 GO
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43 MESH via Orphanet
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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