ANS
MCID: ATX010
MIFTS: 30

Ataxia Neuropathy Spectrum (ANS) malady

Categories: Neuronal diseases, Genetic diseases

Aliases & Classifications for Ataxia Neuropathy Spectrum

Aliases & Descriptions for Ataxia Neuropathy Spectrum:

Name: Ataxia Neuropathy Spectrum 25 69
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 69
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 25
Mitochondrial Recessive Ataxia Syndrome 25
Sando 25
Miras 25
Ans 25

Classifications:



Summaries for Ataxia Neuropathy Spectrum

Genetics Home Reference : 25 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 twnk-related ataxia neuropathy spectrum disorders, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Acetaminophen and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

Related Diseases for Ataxia Neuropathy Spectrum

Diseases in the Ataxia Neuropathy Spectrum family:

Twnk-Related Ataxia Neuropathy Spectrum Disorders Polg-Related Ataxia Neuropathy Spectrum Disorders

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

(show top 50) (show all 1275)
id Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.0
2 twnk-related ataxia neuropathy spectrum disorders 12.0
3 polg-related ataxia neuropathy spectrum disorders 12.0
4 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.9
5 sickle cell disease associated with an other hemoglobin anomaly 11.7
6 hemophagocytic syndrome associated with an infection 11.7
7 silver-russell syndrome due to an imprinting defect of 11p15 11.7
8 polydactyly of an index finger, unilateral 11.7
9 polydactyly of an index finger, bilateral 11.7
10 acanthosis nigricans 11.4
11 aniridia 11.3
12 acute necrotizing encephalopathy 11.1
13 achromatopsia-4 11.1
14 encephalopathy, acute, infection-induced, 4 11.1
15 alopecia, neurologic defects, and endocrinopathy syndrome 11.0
16 mitochondrial recessive ataxia syndrome 11.0
17 polydactyly, preaxial iii 10.9
18 chronic progressive external ophthalmoplegia 10.8
19 aneurysm 10.7
20 bile duct cystadenocarcinoma 10.7
21 immunodeficiency due to a classical component pathway complement deficiency 10.7
22 morel's ear 10.7
23 leukemia 10.7
24 aortic aneurysm 10.6
25 hepatitis 10.6
26 meningitis 10.6
27 breast cancer 10.6
28 myocardial infarction 10.6
29 asthma 10.6
30 rheumatoid arthritis 10.6
31 prostate cancer 10.6
32 cerebritis 10.6
33 endotheliitis 10.6
34 pneumonia 10.6
35 vaginitis 10.6
36 arteriovenous malformation 10.6
37 ovarian cancer 10.6
38 barth syndrome 10.6
39 arthritis 10.6
40 influenza 10.5
41 hydrocephalus 10.5
42 malaria 10.5
43 phenylketonuria 10.5
44 adenoma 10.5
45 aspergillosis 10.5
46 hepatitis c 10.5
47 tuberculosis 10.5
48 homocystinuria 10.5
49 melanoma 10.5
50 lupus erythematosus 10.5

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

GenomeRNAi Phenotypes related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 POLG TWNK

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

Drugs for Ataxia Neuropathy Spectrum (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 80)
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 Intravenous Levetiracetam as First-line Anticonvulsive Treatment in Patients With Non-convulsive Status Epilepticus Withdrawn NCT00603135 Phase 2
30 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627
31 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172
32 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
33 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647
34 CAre of Patients With PArenteral Nutrition At Home Unknown status NCT01545063
35 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415
36 Comparison of Drug Eluting Stent and Covered Metal Stent in Malignant Biliary Obstruction (MIRA III) Completed NCT02460432
37 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
38 Patient Activation Intervention in Improving Screening Rates for Colorectal Cancer Completed NCT01801059
39 Apps to Reduce the Impact That Adverse Events Among Health Professionals Completed NCT02410408
40 A Spanish Pillbox App for Elderly Patients Taking Multiple Medications Completed NCT02071498
41 Epidemiological Study of the Prevalence of Age-Related Macular Degeneration in Portugal Completed NCT01298674
42 Preemptive Analgesia Using Intravenous Paracetamol Completed NCT02884921
43 Evaluation of Safety and Efficacy of the 3F Applicator (A3F) for Treatment of Facial Wrinkles Completed NCT01566396
44 Evaluation of Safety and Efficacy of the Apollo™ System for Treatment of Wrinkles and Rhytides Completed NCT01283711
45 A Study of the Efficacy of the Code Stroke in Spain Completed NCT02647957
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
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:

39
Brain

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

id 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

Cellular components related to Ataxia Neuropathy Spectrum 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 Ataxia Neuropathy Spectrum 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 Ataxia Neuropathy Spectrum 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 Ataxia Neuropathy Spectrum

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