ANS
MCID: ATX010
MIFTS: 32

Ataxia Neuropathy Spectrum (ANS)

Categories: Neuronal diseases

Aliases & Classifications for Ataxia Neuropathy Spectrum

MalaCards integrated aliases for Ataxia Neuropathy Spectrum:

Name: Ataxia Neuropathy Spectrum 25 73
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 73
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 25
Mitochondrial Recessive Ataxia Syndrome 25
Ataxia Neuropathy Spectrum Disorders 6
Sando 25
Miras 25
Ans 25

Classifications:



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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 mitochondrial dna depletion syndrome 7 and chronic progressive external ophthalmoplegia, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs Acetaminophen and Ezetimibe have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and skin.

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 10450)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 7 31.9 MRPL43 TWNK
2 chronic progressive external ophthalmoplegia 31.6 POLG TWNK
3 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.4 MRPL43 POLG TWNK
4 mitochondrial dna depletion syndrome 4a 30.7 POLG TWNK
5 perrault syndrome 30.6 MRPL43 TWNK
6 kearns-sayre syndrome 30.4 POLG TWNK
7 3-methylglutaconic aciduria, type v 30.2 POLG TWNK
8 myoclonic epilepsy associated with ragged-red fibers 30.2 POLG TWNK
9 mitochondrial metabolism disease 30.1 POLG TWNK
10 neuropathy 30.0 POLG TWNK
11 ocular motility disease 29.7 POLG TWNK
12 axonal neuropathy 29.1 POLG TWNK
13 diabetic polyneuropathy 29.0 POLG TWNK
14 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 28.9 POLG TWNK
15 mitochondrial dna depletion syndrome 28.5 POLG TWNK
16 autosomal recessive cerebellar ataxia 28.5 MRPL43 TWNK
17 muscular disease 28.3 POLG TWNK
18 autosomal dominant progressive external ophthalmoplegia 27.7 MRPL43 POLG TWNK
19 hair-an syndrome 12.3
20 hemophagocytic syndrome associated with an infection 12.1
21 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.1
22 sickle cell disease associated with an other hemoglobin anomaly 12.0
23 silver-russell syndrome due to an imprinting defect of 11p15 12.0
24 aniridia 1 11.6
25 acanthosis nigricans 11.6
26 alopecia, neurologic defects, and endocrinopathy syndrome 11.6
27 anorexia nervosa 11.6
28 acute necrotizing encephalopathy 11.5
29 encephalopathy, acute, infection-induced 4 11.5
30 schizophrenia 1 11.5
31 schizophrenia 11.5
32 polydactyly, preaxial iii 11.4
33 pheochromocytoma 11.3
34 schizophrenia 3 11.3
35 schizophrenia 7 11.3
36 schizophrenia 8 11.3
37 blood group--ahonen 11.3
38 schizophrenia 15 11.1
39 schizophrenia 18 11.1
40 schizophrenia 19 11.1
41 schizophrenia 5 10.9
42 schizophrenia 9 10.9
43 bile duct cystadenocarcinoma 10.9
44 morel's ear 10.9
45 immunodeficiency due to a classical component pathway complement deficiency 10.9
46 leukemia 10.9
47 breast cancer 10.8
48 aortic aneurysm 10.8
49 meningitis 10.8
50 multiple sclerosis 10.8

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 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
2
Ezetimibe Approved Phase 4 163222-33-1 150311
3
Acyclovir Approved Phase 4 59277-89-3 2022
4
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
7 Micronutrients Phase 4,Phase 3
8 Vitamins Phase 4,Phase 3,Not Applicable
9 Trace Elements Phase 4,Phase 3
10 Anti-Infective Agents Phase 4,Not Applicable
11 Antiviral Agents Phase 4,Not Applicable
12 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
14 Vitamin D2 Phase 4
15 Calciferol Phase 4,Phase 3
16 Bone Density Conservation Agents Phase 4,Phase 3
17 Ergocalciferols Phase 4
18 Broncho-Vaxom Phase 4
19 Adjuvants, Immunologic Phase 4
20 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
21 Pharmaceutical Solutions Phase 4,Not Applicable
22 Antipyretics Phase 4,Not Applicable
23 Analgesics, Non-Narcotic Phase 4,Not Applicable
24 Analgesics Phase 4,Not Applicable
25 Calcium, Dietary Phase 4,Phase 3
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
27 Anticholesteremic Agents Phase 4
28 Rosuvastatin Calcium Phase 4 147098-20-2
29 Lipid Regulating Agents Phase 4
30 Antimetabolites Phase 4
31 Hypolipidemic Agents Phase 4
32 Ophthalmic Solutions Phase 4
33 valacyclovir Phase 4
34 Antitussive Agents Phase 4
35 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
36 Respiratory System Agents Phase 4
37
leucovorin Approved Phase 3 58-05-9 6006 143
38 Orange Approved Phase 3
39
Hesperidin Approved, Investigational Phase 3 520-26-3 53477767
40
Paclitaxel Approved, Vet_approved Phase 3,Not Applicable 33069-62-4 36314
41 Mirabegron Approved Phase 3 223673-61-8
42
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
43 tannic acid Approved Phase 3,Phase 1,Phase 2
44
Benzocaine Approved, Investigational Phase 3,Phase 1,Phase 2 94-09-7, 1994-09-7 2337
45
Hydrocortisone acetate Approved, Vet_approved Phase 3,Not Applicable 50-03-3
46
Hydrocortisone Approved, Vet_approved Phase 3,Not Applicable 50-23-7 5754
47
Calcium Carbonate Approved, Investigational Phase 3 471-34-1
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
49
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
50
Lactitol Investigational Phase 3 585-86-4 3871

Interventional clinical trials:

(show top 50) (show all 105)
# 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 Rosuvastatin/Ezetimibe Versus Rosuvastatin in ASCVD Patients With Type 2 DM Recruiting NCT03597412 Phase 4 Rosuvamibe;Monorova
5 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
6 Zoster Eye Disease Study Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
7 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4 Codeine/paracetamol;Oxycodone/naloxone
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 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3 DDP733
12 Patency and Safety of the Drug Eluting Covered Biliary Stent Comparing to the Common Covered Biliary Stent Completed NCT01512563 Phase 3
13 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3 Mirabegron
14 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
15 Immunogenicity and Safety of Meningococcal ACWY Conjugate Vaccine in Healthy Children, Adolescents and Adults in Russia Completed NCT01725217 Phase 3
16 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
17 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
18 A Long-term Safety Study of Intranasal Esketamine in Treatment-resistant Depression Recruiting NCT02782104 Phase 3 Intranasal Esketamine
19 Non-inferiority of Lower Dose Calcium Supplementation During Pregnancy Recruiting NCT03350516 Phase 3
20 Community-Acquired Pneumonia : Evaluation of Corticosteroids Recruiting NCT02517489 Phase 3 Hydrocortisone;Placebo
21 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
22 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
23 Efficacy and Safety of the Paclitaxel Eluting Covered Biliary Stent to the Common Covered Metallic Biliary Stent Terminated NCT01413386 Phase 3
24 Influence of Cincalcet on Cognitive Functions in Healthy Human Subjects Completed NCT01599962 Phase 2 Cinacalcet;Placebo
25 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
26 Study of CTS-1027 in Hepatitis C Patients Completed NCT00570336 Phase 2 CTS-1027
27 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
28 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
29 Efficacy Study of VA106483 in Males With Nocturia. Completed NCT01038843 Phase 2 VA106483
30 A Study to Evaluate the Safety, Pharmacokinetics, and Efficacy of Topical ESR-114 in Subjects With Plaque Psoriasis Recruiting NCT03630939 Phase 1, Phase 2 ESR-114
31 Combination Therapy With Pembrolizumab and sEphB4-HSA in Previously Treated Urothelial Carcinoma Recruiting NCT02717156 Phase 2
32 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
33 QUILT-3.055: A Study of ALT-803 in Combination With Pembrolizumab or Nivolumab in Patients With Advanced or Metastatic Non-Small Cell Lung Cancer Recruiting NCT03228667 Phase 2 ALT-803 + Pembrolizumab;ALT-803 + Nivolumab
34 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
35 A Phase 2 Study of Cyclo-Z in Subjects With Type 2 Diabetes Active, not recruiting NCT03560271 Phase 2 Cyclo-Z
36 Red-fleshed Apple as a Novel Anthocyanin-biofortified Food to Improve Cardiometabolic Risk Factors. Not yet recruiting NCT03795324 Phase 2
37 QUILT-3.014: A Trial of ABI-011 Administered Weekly in Patients With Advanced Solid Tumors or Lymphomas Recruiting NCT02582827 Phase 1 ABI-011
38 Altering Memories That Increase Risk of Relapse in Alcohol Use Disorders Recruiting NCT03732248 Phase 1 Rapamycin;Placebo
39 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627 Not Applicable Nevirapine;efavirenz, protease inhibitors
40 Effects of Obesity Treatments on Food Preferences and Metabolism Unknown status NCT01724060
41 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172 Not Applicable
42 Investigation of the Effects of Bariatric Surgery on Taste Reward in Humans Unknown status NCT01531738
43 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
44 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647 Not Applicable citalopram;1 ml 0.9 % NaCl
45 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415 Not Applicable
46 The Effect of Preventive Use of Ondansetron in the Cesarean Section Under Spinal Anesthesia Unknown status NCT02883192 Not Applicable Ondansetron;Placebo
47 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia Unknown status NCT02879292
48 Comparison of Drug Eluting Stent and Covered Metal Stent in Malignant Biliary Obstruction (MIRA III) Completed NCT02460432 Not Applicable
49 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052 Not Applicable
50 TENS Self-applied in the Complementary Treatment of Deep Endometriosis Completed NCT02769052 Not Applicable

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:

41
Brain, Lung, Skin, Kidney, Bone, Heart, Breast

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

ClinVar genetic disease variations for Ataxia Neuropathy Spectrum:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh37 Chromosome 10, 102748606: 102748606
2 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh38 Chromosome 10, 100988849: 100988849
3 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh37 Chromosome 10, 102750621: 102750621
4 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh38 Chromosome 10, 100990864: 100990864
5 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh37 Chromosome 10, 102750623: 102750623
6 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh38 Chromosome 10, 100990866: 100990866
7 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh37 Chromosome 10, 102747363: 102747363
8 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh38 Chromosome 10, 100987606: 100987606
9 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh37 Chromosome 10, 102752933: 102752933
10 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh38 Chromosome 10, 100993176: 100993176
11 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
12 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
13 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
14 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
15 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
16 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
17 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
18 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257
19 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh37 Chromosome 10, 102753262: 102753262
20 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh38 Chromosome 10, 100993505: 100993505
21 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh37 Chromosome 10, 102748351: 102748351
22 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh38 Chromosome 10, 100988594: 100988594
23 TWNK NM_021830.4(TWNK): c.-650A> G single nucleotide variant Likely benign rs187213541 GRCh37 Chromosome 10, 102747318: 102747318
24 TWNK NM_021830.4(TWNK): c.-650A> G single nucleotide variant Likely benign rs187213541 GRCh38 Chromosome 10, 100987561: 100987561
25 TWNK NM_021830.4(TWNK): c.-423C> T single nucleotide variant Uncertain significance rs886046627 GRCh37 Chromosome 10, 102747545: 102747545
26 TWNK NM_021830.4(TWNK): c.-423C> T single nucleotide variant Uncertain significance rs886046627 GRCh38 Chromosome 10, 100987788: 100987788
27 TWNK NM_021830.4(TWNK): c.-304_-303delGT deletion Likely benign rs886046628 GRCh37 Chromosome 10, 102747664: 102747665
28 TWNK NM_021830.4(TWNK): c.-304_-303delGT deletion Likely benign rs886046628 GRCh38 Chromosome 10, 100987907: 100987908
29 TWNK NM_021830.4(TWNK): c.-241C> T single nucleotide variant Likely benign rs113159821 GRCh37 Chromosome 10, 102747727: 102747727
30 TWNK NM_021830.4(TWNK): c.-241C> T single nucleotide variant Likely benign rs113159821 GRCh38 Chromosome 10, 100987970: 100987970
31 TWNK NM_021830.4(TWNK): c.-105T> C single nucleotide variant Uncertain significance rs886046629 GRCh37 Chromosome 10, 102747863: 102747863
32 TWNK NM_021830.4(TWNK): c.-105T> C single nucleotide variant Uncertain significance rs886046629 GRCh38 Chromosome 10, 100988106: 100988106
33 TWNK NM_021830.4(TWNK): c.274G> A (p.Gly92Ser) single nucleotide variant Uncertain significance rs886046630 GRCh37 Chromosome 10, 102748241: 102748241
34 TWNK NM_021830.4(TWNK): c.274G> A (p.Gly92Ser) single nucleotide variant Uncertain significance rs886046630 GRCh38 Chromosome 10, 100988484: 100988484
35 TWNK NM_021830.4(TWNK): c.276C> T (p.Gly92=) single nucleotide variant Uncertain significance rs886046631 GRCh37 Chromosome 10, 102748243: 102748243
36 TWNK NM_021830.4(TWNK): c.276C> T (p.Gly92=) single nucleotide variant Uncertain significance rs886046631 GRCh38 Chromosome 10, 100988486: 100988486
37 TWNK NM_021830.4(TWNK): c.1042G> A (p.Gly348Arg) single nucleotide variant Uncertain significance rs62626271 GRCh37 Chromosome 10, 102749009: 102749009
38 TWNK NM_021830.4(TWNK): c.1042G> A (p.Gly348Arg) single nucleotide variant Uncertain significance rs62626271 GRCh38 Chromosome 10, 100989252: 100989252
39 TWNK NM_021830.4(TWNK): c.1488T> C (p.Thr496=) single nucleotide variant Likely benign rs549767223 GRCh37 Chromosome 10, 102750196: 102750196
40 TWNK NM_021830.4(TWNK): c.1488T> C (p.Thr496=) single nucleotide variant Likely benign rs549767223 GRCh38 Chromosome 10, 100990439: 100990439
41 TWNK NM_021830.4(TWNK): c.*234T> G single nucleotide variant Uncertain significance rs886046633 GRCh37 Chromosome 10, 102753501: 102753501
42 TWNK NM_021830.4(TWNK): c.*234T> G single nucleotide variant Uncertain significance rs886046633 GRCh38 Chromosome 10, 100993744: 100993744
43 TWNK NM_021830.4(TWNK): c.*367A> G single nucleotide variant Likely benign rs62626296 GRCh37 Chromosome 10, 102753634: 102753634
44 TWNK NM_021830.4(TWNK): c.*367A> G single nucleotide variant Likely benign rs62626296 GRCh38 Chromosome 10, 100993877: 100993877
45 TWNK NM_021830.4(TWNK): c.*521C> G single nucleotide variant Benign rs11542131 GRCh37 Chromosome 10, 102753788: 102753788
46 TWNK NM_021830.4(TWNK): c.*521C> G single nucleotide variant Benign rs11542131 GRCh38 Chromosome 10, 100994031: 100994031
47 TWNK NM_021830.4(TWNK): c.*555G> A single nucleotide variant Uncertain significance rs886046635 GRCh38 Chromosome 10, 100994065: 100994065
48 TWNK NM_021830.4(TWNK): c.*555G> A single nucleotide variant Uncertain significance rs886046635 GRCh37 Chromosome 10, 102753822: 102753822
49 TWNK NM_021830.4(TWNK): c.*766A> T single nucleotide variant Benign rs3740488 GRCh37 Chromosome 10, 102754033: 102754033
50 TWNK NM_021830.4(TWNK): c.*766A> T single nucleotide variant Benign rs3740488 GRCh38 Chromosome 10, 100994276: 100994276

Expression for Ataxia Neuropathy Spectrum

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

Pathways for Ataxia Neuropathy Spectrum

Pathways related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 MRPL43 TWNK

GO Terms for Ataxia Neuropathy Spectrum

Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 MRPL43 POLG TWNK
2 mitochondrial nucleoid GO:0042645 8.62 POLG TWNK

Biological processes related to Ataxia Neuropathy Spectrum 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 Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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