MCID: ATX010
MIFTS: 29

Ataxia Neuropathy Spectrum

Categories: Neuronal diseases

Aliases & Classifications for Ataxia Neuropathy Spectrum

MalaCards integrated aliases for Ataxia Neuropathy Spectrum:

Name: Ataxia Neuropathy Spectrum 24 69
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 69
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 24
Mitochondrial Recessive Ataxia Syndrome 24
the Ataxia Neuropathy Spectrum 36
Sando 24
Miras 24
Ans 24

Classifications:



External Ids:

KEGG 36 H01384

Summaries for Ataxia Neuropathy Spectrum

Genetics Home Reference : 24 Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).

MalaCards based summary : Ataxia Neuropathy Spectrum, also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, is related to hair-an syndrome and hemophagocytic syndrome associated with an infection, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Acetaminophen and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and prostate.

Related Diseases for Ataxia Neuropathy Spectrum

Diseases related to Ataxia Neuropathy Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 310)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.1
2 hemophagocytic syndrome associated with an infection 12.0
3 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.0
4 silver-russell syndrome due to an imprinting defect of 11p15 11.9
5 polydactyly of an index finger, unilateral 11.9
6 polydactyly of an index finger, bilateral 11.9
7 sickle cell disease associated with an other hemoglobin anomaly 11.9
8 aniridia 1 11.5
9 acanthosis nigricans 11.5
10 acute necrotizing encephalopathy 11.4
11 schizophrenia 11.3
12 polydactyly, preaxial iii 11.3
13 mitochondrial dna depletion syndrome 7 11.3
14 anorexia nervosa 1 11.2
15 encephalopathy, acute, infection-induced 4 11.1
16 alopecia, neurologic defects, and endocrinopathy syndrome 11.1
17 schizophrenia 1 11.1
18 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.1
19 schizophrenia 15 10.9
20 schizophrenia 18 10.9
21 schizophrenia 19 10.9
22 chronic progressive external ophthalmoplegia 10.9
23 aneurysm 10.8
24 blood group--ahonen 10.8
25 schizophrenia 3 10.8
26 schizophrenia 5 10.8
27 schizophrenia 7 10.8
28 immunodeficiency due to a classical component pathway complement deficiency 10.8
29 schizophrenia 8 10.8
30 schizophrenia 9 10.8
31 morel's ear 10.8
32 bile duct cystadenocarcinoma 10.8
33 leukemia 10.7
34 aortic aneurysm 10.7
35 hydrocephalus 10.7
36 meningitis 10.7
37 hepatitis 10.6
38 asthma 10.6
39 multiple sclerosis 10.6
40 pneumonia 10.6
41 episodic pain syndrome, familial, 1 10.6
42 rheumatoid arthritis 10.6
43 barth syndrome 10.6
44 vaginitis 10.6
45 fibrosis of extraocular muscles, congenital, 1 10.6
46 arteriovenous malformation 10.6
47 myocardial infarction 10.6
48 antiphospholipid syndrome 10.6
49 cerebritis 10.6
50 encephalopathy 10.6

Graphical network of the top 20 diseases related to Ataxia Neuropathy Spectrum:



Diseases related to Ataxia Neuropathy Spectrum

Symptoms & Phenotypes for Ataxia Neuropathy Spectrum

UMLS symptoms related to Ataxia Neuropathy Spectrum:


ophthalmoplegia

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

Drugs for Ataxia Neuropathy Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
3
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
4 Micronutrients Phase 4,Phase 3
5 Trace Elements Phase 4,Phase 3
6 Vitamins Phase 4,Phase 3
7 Anti-Infective Agents Phase 4
8 Antiviral Agents Phase 4
9 Analgesics Phase 4,Phase 3
10 Adjuvants, Immunologic Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Ergocalciferols Phase 4
14 Antipyretics Phase 4
15 Broncho-Vaxom Phase 4
16 Bone Density Conservation Agents Phase 4,Phase 3
17 Acyclovir Phase 4
18 valacyclovir Phase 4
19 Central Nervous System Depressants Phase 4,Phase 2
20 Vitamin D2 Nutraceutical Phase 4
21 Calciferol Nutraceutical Phase 4
22
Citalopram Approved Phase 3 59729-33-8 2771
23
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
24
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
25
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
26 Mirabegron Approved Phase 3 223673-61-8
27
Norepinephrine Approved Phase 3 51-41-2 439260
28
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 657311 5754
29
Sertraline Approved Phase 3 79617-96-2 68617
30
Calcium Carbonate Approved, Investigational Phase 3 471-34-1
31
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
33
Cholecalciferol Approved, Nutraceutical Phase 3 67-97-0 10883523 5280795 6221
34
Lactitol Investigational Phase 3 585-86-4 3871
35
Butyric Acid Experimental, Investigational Phase 3 107-92-6 264
36
Serotonin Phase 3 50-67-9 5202
37 Serotonin Agents Phase 3
38 Serotonin Uptake Inhibitors Phase 3
39 Neurotransmitter Agents Phase 3,Phase 2
40 Hematinics Phase 3
41 Neurotransmitter Uptake Inhibitors Phase 3
42 Cytochrome P-450 Enzyme Inhibitors Phase 3
43 Vitamin B Complex Phase 3
44 Antidepressive Agents Phase 3,Phase 2
45 Antidepressive Agents, Second-Generation Phase 3,Phase 2
46 Psychotropic Drugs Phase 3,Phase 2
47 Adrenergic Agents Phase 3
48 Adrenergic Agonists Phase 3
49 Muscarinic Antagonists Phase 3
50 Adrenergic beta-3 Receptor Agonists Phase 3

Interventional clinical trials:

(show top 50) (show all 80)

# Name Status NCT ID Phase Drugs
1 Early Albumin Resuscitation During Septic Shock Completed NCT00327704 Phase 4 albumin;saline
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 Oral vitamin D 100,000 IU;Placebo
3 Advanced Immunological Approach in COPD Exacerbation Completed NCT02417649 Phase 4
4 Zoster Eye Disease Study Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
5 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4 Codeine/paracetamol;Oxycodone/naloxone
6 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
7 The Assessment of Preoperative Psychological Intervention on Stress in Women With Gynecological Malignancies Unknown status NCT00726635 Phase 3
8 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3 DDP733
9 Patency and Safety of the Drug Eluting Covered Biliary Stent Comparing to the Common Covered Biliary Stent Completed NCT01512563 Phase 3
10 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3 Mirabegron
11 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
12 Immunogenicity and Safety of Meningococcal ACWY Conjugate Vaccine in Healthy Children, Adolescents and Adults in Russia Completed NCT01725217 Phase 3
13 Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3 Brisdelle (paroxetine mesylate);Placebo capsules
14 A Long-term Safety Study of Intranasal Esketamine in Treatment-resistant Depression Recruiting NCT02782104 Phase 3 Intranasal Esketamine
15 A Study of Intranasal Esketamine Plus an Oral Antidepressant for Relapse Prevention in Adult Participants With Treatment-resistant Depression Recruiting NCT02493868 Phase 3 Esketamine;Placebo;Duloxetine (Oral Antidepressant);Escitalopram (Oral antidepressant);Sertraline (Oral Antidepressant);Venlafaxine Extended Release (XR) (Oral Antidepressant)
16 Community-Acquired Pneumonia : Evaluation of Corticosteroids Recruiting NCT02517489 Phase 3 Hydrocortisone;Placebo
17 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 - single low dose;QPI-1007 Injection - single high dose;QPI-1007 Injection - multiple low dose;QPI-1007 Injection - multiple high dose
18 Non-inferiority of Lower Dose Calcium Supplementation During Pregnancy Not yet recruiting NCT03350516 Phase 3
19 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
20 Efficacy and Safety of the Paclitaxel Eluting Covered Biliary Stent to the Common Covered Metallic Biliary Stent Terminated NCT01413386 Phase 3
21 Influence of Cincalcet on Cognitive Functions in Healthy Human Subjects Completed NCT01599962 Phase 2 Cinacalcet;Placebo
22 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
23 Study of CTS-1027 in Hepatitis C Patients Completed NCT00570336 Phase 2 CTS-1027
24 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
25 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
26 Efficacy Study of VA106483 in Males With Nocturia. Completed NCT01038843 Phase 2 VA106483
27 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
28 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627 Nevirapine;efavirenz, protease inhibitors
29 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172
30 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
31 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647 citalopram;1 ml 0.9 % NaCl
32 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415
33 Comparison of Drug Eluting Stent and Covered Metal Stent in Malignant Biliary Obstruction (MIRA III) Completed NCT02460432
34 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
35 Muscle Lipid and Insulin Resistance in the Elderly Completed NCT00765505
36 Patient Activation Intervention in Improving Screening Rates for Colorectal Cancer Completed NCT01801059
37 mHealth Intervention in Increasing HPV Vaccinations in College Students Completed NCT02960100
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 Paracetamol;Paracetamol;Placebo
42 Evaluation of Safety and Efficacy of the 3F Applicator (A3F) for Treatment of Facial Wrinkles Completed NCT01566396
43 A Study of the Efficacy of the Code Stroke in Spain Completed NCT02647957
44 Evaluation of Safety and Efficacy of the Apollo™ System for Treatment of Wrinkles and Rhytides Completed NCT01283711
45 CAre of Patients With PArenteral Nutrition At Home Completed NCT01545063
46 Circulating Cell-free DNA in Metastatic Melanoma Patient: Mutational Analyses in Consecutive Measurement Before and After Chemotherapy Completed NCT02133222
47 Copeptin for Risk Stratification in Acute Stroke Patients: the CoRisk Study Completed NCT00878813
48 Donepezil Effect on Visual Attention and Training Completed NCT01738295 Donepezil administration;Placebo administration
49 Identification of Biomarkers Sensitive to Disease Progression in Patients With Mild Cognitive Impairment Completed NCT01425957
50 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686

Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

Anatomical Context for Ataxia Neuropathy Spectrum

MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

38
Breast, Brain, Prostate, Bone, Testes, Eye

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

# Title Authors Year
1
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. ( 26755490 )
2016
2
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. ( 22805437 )
2012

Variations for Ataxia Neuropathy Spectrum

Expression for Ataxia Neuropathy Spectrum

Search GEO for disease gene expression data for Ataxia Neuropathy Spectrum.

Pathways for Ataxia Neuropathy Spectrum

GO Terms for Ataxia Neuropathy Spectrum

Sources for Ataxia Neuropathy Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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