APAO
MCID: ATX038
MIFTS: 51

Ataxia and Polyneuropathy, Adult-Onset (APAO)

Categories: Genetic diseases

Aliases & Classifications for Ataxia and Polyneuropathy, Adult-Onset

MalaCards integrated aliases for Ataxia and Polyneuropathy, Adult-Onset:

Name: Ataxia and Polyneuropathy, Adult-Onset 57 74 6
Ataxia 44 40
Apao 74

Classifications:



External Ids:

OMIM 57 500010
ICD10 33 R27.0
MedGen 42 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

UniProtKB/Swiss-Prot : 74 Ataxia and polyneuropathy, adult-onset: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as ataxia, is related to kearns-sayre syndrome and lactic acidosis. An important gene associated with Ataxia and Polyneuropathy, Adult-Onset is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Clonidine and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and breast.

More information from OMIM: 500010

Related Diseases for Ataxia and Polyneuropathy, Adult-Onset

Diseases related to Ataxia and Polyneuropathy, Adult-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2111)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 31.9 MT-ND4 MT-ATP8 MT-ATP6
2 lactic acidosis 29.8 MT-ND4 MT-CO3 MT-ATP6
3 leigh syndrome 29.8 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
4 optic nerve disease 29.5 MT-ND4L MT-ND4 MT-ATP6
5 retinitis pigmentosa 29.4 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
6 mitochondrial metabolism disease 29.4 MT-ND4 MT-ND3 MT-ATP6
7 mitochondrial myopathy 29.2 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
8 mitochondrial complex iv deficiency 29.2 MT-ND4 MT-CO3
9 striatonigral degeneration, infantile 28.9 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
10 deafness, nonsyndromic sensorineural, mitochondrial 28.4 MT-ND4 MT-CO3 MT-ATP8 MT-ATP6
11 mitochondrial encephalomyopathy 28.3 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP6
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 27.7 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP6
13 leber optic atrophy 27.0 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
14 friedreich ataxia 1 12.8
15 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.8
16 ataxia-telangiectasia 12.7
17 spastic ataxia, charlevoix-saguenay type 12.7
18 autosomal dominant cerebellar ataxia 12.7
19 episodic ataxia, type 2 12.7
20 spinocerebellar ataxia 2 12.7
21 spinocerebellar ataxia 1 12.7
22 spinocerebellar ataxia 7 12.6
23 spinocerebellar ataxia 29 12.6
24 spinocerebellar ataxia 6 12.6
25 spinocerebellar ataxia 15 12.6
26 episodic ataxia, type 1 12.6
27 spinocerebellar ataxia 34 12.6
28 spinocerebellar ataxia, autosomal recessive 8 12.6
29 spinocerebellar ataxia 31 12.6
30 spinocerebellar ataxia 10 12.6
31 spinocerebellar ataxia 36 12.6
32 spinocerebellar ataxia 13 12.6
33 anemia, sideroblastic, and spinocerebellar ataxia 12.6
34 spinocerebellar ataxia 20 12.6
35 spinocerebellar ataxia 17 12.6
36 spinocerebellar ataxia 27 12.6
37 spinocerebellar ataxia 21 12.6
38 spinocerebellar ataxia 14 12.6
39 spinocerebellar ataxia 23 12.6
40 spinocerebellar ataxia 12 12.6
41 hereditary ataxia 12.6
42 spinocerebellar ataxia 8 12.6
43 spinocerebellar ataxia 28 12.6
44 spinocerebellar ataxia 26 12.6
45 spinocerebellar ataxia 11 12.5
46 spinocerebellar ataxia 5 12.5
47 spinocerebellar ataxia, autosomal recessive 7 12.5
48 spinocerebellar ataxia, autosomal recessive 4 12.5
49 posterior column ataxia with retinitis pigmentosa 12.5
50 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.5

Graphical network of the top 20 diseases related to Ataxia and Polyneuropathy, Adult-Onset:



Diseases related to Ataxia and Polyneuropathy, Adult-Onset

Symptoms & Phenotypes for Ataxia and Polyneuropathy, Adult-Onset

Clinical features from OMIM:

500010

Drugs & Therapeutics for Ataxia and Polyneuropathy, Adult-Onset

Drugs for Ataxia and Polyneuropathy, Adult-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 395)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Mecasermin Approved, Investigational Phase 4 68562-41-4
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
5
4-Aminopyridine Approved Phase 4 504-24-5 1727
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Polyestradiol phosphate Approved Phase 4 28014-46-2
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
10
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
11
Metformin Approved Phase 4 657-24-9 4091 14219
12
leucovorin Approved Phase 4 58-05-9 143 6006
13
Promethazine Approved, Investigational Phase 4 60-87-7 4927
14
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
15
Histamine Approved, Investigational Phase 4 51-45-6 774
16
Phenylephrine Approved Phase 4 59-42-7 6041
17
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
18
Zolpidem Approved Phase 4 82626-48-0 5732
19
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
20
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
21
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
22
Topiramate Approved Phase 4 97240-79-4 5284627
23
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
24
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
25
Sulfamethoxazole Approved Phase 4 723-46-6 5329
26
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
27
Cefpirome Approved Phase 4 84957-29-9 5479539
28
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
29
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
30
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
31
Acetaminophen Approved Phase 4 103-90-2 1983
32
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
33
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
34
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
35
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
37 Antihypertensive Agents Phase 4
38 Estrogens Phase 4
39 arginine Phase 4
40 Cholinergic Agents Phase 4
41 Parasympatholytics Phase 4
42 Antidepressive Agents Phase 4
43 Serotonin Uptake Inhibitors Phase 4
44 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
45 Antidepressive Agents, Second-Generation Phase 4
46 Cytochrome P-450 Enzyme Inhibitors Phase 4
47 Muscarinic Antagonists Phase 4
48 Neurotransmitter Uptake Inhibitors Phase 4
49 Cholinergic Antagonists Phase 4
50 Serotonin Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 374)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Comparison of Chlordiazepoxide and Gabapentin for Outpatient Alcohol Detoxification Treatment Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
5 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
6 Phase IV 4 Way Crossover Study to Assess and Compare the Effect of a Single Nighttime Administration of Zolpidem, Silenor and Placebo on Arousability, Ataxia/Balance and Cognitive Performance in Healthy Volunteers. Completed NCT02353299 Phase 4 Silenor 6 mg;zolpidem 10 mg;Placebo;Placebo
7 Is Atropine Needed With Ketamine Sedation? Completed NCT00834470 Phase 4 Atropine
8 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Determine the Effacy and Safety of Topiramate in Subjects With Restless Legs Syndrome (RLS) Completed NCT00200941 Phase 4 Topiramate
9 Pyrimethamine Plus Sulfadiazine Versus Trimethoprim Plus Sulfamethoxazole for Treatment of Toxoplasmic Encephalitis in AIDS Patients: A Randomized Controlled Trial. Completed NCT00367081 Phase 4 TMX-SMX (Bactrim(R));Pyrimethamine plus Sulfadiazine plus leucoverin
10 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
11 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
12 A Phase IV Double Blind, Randomized, Placebo Controlled, Crossover Study of the Effectiveness of Oral Fampridine in Improving Upper Limb Function in Progressive Multiple Sclerosis Completed NCT02208050 Phase 4 Fampridine;Placebo
13 Does Postoperative Gabapentin Reduce Pain, Opioid Consumption & Anxiety & Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? Completed NCT00982800 Phase 4 Gabapentin;Placebo Sugar Pill
14 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
15 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Unknown status NCT02918760 Phase 3 Gabapentin
16 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
17 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
18 A Prospective Randomized Comparison of Idarubicin and High-dose Daunorubicin in Combination With Cytarabine in the Induction Chemotherapy for Acute Myeloid Leukemia Unknown status NCT01145846 Phase 3 Cytarabine plus Daunorubicin [Arm II (AD regimen)]
19 Phase III Clinical Trial: "Evaluation of the Combination of TRANSKRIP ® Plus Carboplatin and Paclitaxel as First Line Chemotherapy on Survival of Patients With Recurrent - Persistent Cervical Cancer Unknown status NCT02446652 Phase 3 Hydralazine/Magnesium;Placebo;Carboplatin;Paclitaxel
20 A Phase III Open-Label, Single Group Extension Study of the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
21 A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients. Completed NCT00993967 Phase 3 idebenone
22 A Phase III Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
23 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
24 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
25 A Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study of Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone Completed NCT01303406 Phase 3 Idebenone;Placebo
26 A Phase III Double-blind, Randomised, Placebo-controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00905268 Phase 3 idebenone;Placebo
27 Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Pharmacokinetic Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
28 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
29 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
30 Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02593773 Phase 3 Interferon γ-1b
31 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
32 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
33 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
34 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
35 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
36 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
37 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
38 A Single-centre Phase III Clinical Trial for Vero Cell-derived Inactivated Japanese Encephalitis Vaccine Produced by Shandong Hengye Biotech Co., Ltd. in Healthy Chinese Infants Aged 6-11 Months, Aimed to Evaluate Immunogenicity and Safety Completed NCT02367664 Phase 3
39 Comparison of Ivermectin Alone With Albendazole (ALB) Plus Ivermectin (IVM) in Their Efficacy Against Onchocerciasis Completed NCT03238131 Phase 3 Ivermectin;Albendazole
40 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
41 Effects of Oral Pregabalin Versus Placebo on Postoperative Pain and Morphine Consumption After Mastectomy Completed NCT01391858 Phase 3 lyrica
42 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
43 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
44 Gut Microbiota Alteration and Improvement of Ataxia in Patients of Multiple System Atrophy Treating With Tllsh2910 - a Randomized, Placebo-controlled, Double-blinded, Cross-over, Single-center Clinical Trial Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
45 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
46 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
47 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
48 Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia Recruiting NCT03816540 Phase 3
49 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
50 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157

Search NIH Clinical Center for Ataxia and Polyneuropathy, Adult-Onset

Cochrane evidence based reviews: ataxia

Genetic Tests for Ataxia and Polyneuropathy, Adult-Onset

Anatomical Context for Ataxia and Polyneuropathy, Adult-Onset

MalaCards organs/tissues related to Ataxia and Polyneuropathy, Adult-Onset:

41
Brain, Testes, Breast, Cerebellum, Lung, Eye, T Cells

Publications for Ataxia and Polyneuropathy, Adult-Onset

Articles related to Ataxia and Polyneuropathy, Adult-Onset:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. 38 8 71
18055910 2007
2
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 38 8 71
16049925 2005
3
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 38 71
24418350 2014
4
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. 38 71
9568930 1998
5
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. 38 71
8644724 1996
6
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. 71
11916326 2001
7
A family with Leigh syndrome caused by the rarer T8993C mutation. 71
9762610 1998
8
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 71
8602753 1996
9
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. 71
8750605 1995
10
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. 71
3612192 1987
11
Kv1.1 channel subunits in the control of neurocardiac function. 38
31250689 2019
12
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. 38
31229688 2019
13
New pathologic mechanisms in nucleotide repeat expansion disorders. 38
31229686 2019
14
Protective roles of carbonic anhydrase 8 in Machado-Joseph Disease. 38
31157458 2019
15
ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration. 38
31233884 2019
16
Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression. 38
31151992 2019
17
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 38
30996334 2019
18
Anti-Ri-associated paraneoplastic neurological syndrome: Initial symptom of breast cancer with HER2 overexpression and treatment by dual HER2 blockade. 38
30124121 2019
19
Hyperkinetic movement disorders in congenital disorders of glycosylation. 38
31132195 2019
20
Endoscopic Fourth Ventriculostomy: Suboccipital Transaqueductal Approach for Fenestration of Isolated Fourth Ventricle: Case Report and Technical Note. 38
31203068 2019
21
β-Mannosidosis in German Shepherd Dogs. 38
30983534 2019
22
Functional motor control deficits in older FMR1 premutation carriers. 38
31161414 2019
23
Unilateral Occipital Transtentorial Approach with Multimodal Assistance for Resection of Large Supracerebellar Hemangioblastomas: Preliminary Experience of 2 Cases. 38
31285176 2019
24
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. 38
30897263 2019
25
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 38
30976113 2019
26
Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome. 38
31302377 2019
27
Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation. 38
31286494 2019
28
Identification of aberrantly methylated differentially expressed genes in breast cancer by integrated bioinformatics analysis. 38
31081184 2019
29
Serotonin synthesis protects the mouse colonic crypt from DNA damage and colorectal tumorigenesis. 38
31038736 2019
30
ATDC promotes the growth and invasion of hepatocellular carcinoma cells by modulating GSK-3β/Wnt/β-catenin signalling. 38
31168819 2019
31
Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7. 38
30721448 2019
32
Spinocerebellar ataxia type 2-neuronopathy or neuropathy? 38
31228263 2019
33
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 38
31182267 2019
34
Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease). 38
31351215 2019
35
Olivary hypertrophy improved by steroid treatment: Two case reports with unique presentations. 38
31306854 2019
36
Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. 38
31323545 2019
37
Assessment of vitamin D status in common variable immunodeficiency or ataxia-telangiectasia patients. 38
31377030 2019
38
Wegener's Granulomatosis Presenting as Wallenberg Syndrome: A Case Report. 38
31027983 2019
39
[Superficial siderosis of the central nervous system caused by myxopapillary ependymoma of conus medullaris and cauda equine: a case report and literature review]. 38
31420638 2019
40
Neurologic Acyclovir Toxicity in the Absence of Kidney Injury. 38
31171414 2019
41
Vanishing white matter disease with different faces. 38
31385086 2019
42
Surgical intervention for vertebral osteomyelitis in a calf. 38
31219189 2019
43
Deciphering exome sequencing data: bringing mitochondrial DNA variants to light. 38
31379041 2019
44
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients. 38
31069529 2019
45
The synthetic cannabinoid JWH-018 modulates Saccharomyces cerevisiae energetic metabolism. 38
31329229 2019
46
Synthesis and biological evaluation of bromophenol derivatives with cyclopropyl moiety: Ring opening of cyclopropane with monoester. 38
31174041 2019
47
Variants in DOCK3 cause developmental delay and hypotonia. 38
30976111 2019
48
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. 38
31041561 2019
49
Upper limb movements in dementia with Lewy body: a quantitative analysis. 38
31177296 2019
50
Suspected neurological toxicity after oral application of fluralaner (Bravecto®) in a Kooikerhondje dog. 38
31391054 2019

Variations for Ataxia and Polyneuropathy, Adult-Onset

ClinVar genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-ATP6 NC_012920.1: m.8993T> C single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
2 GRIN2B NM_000834.4(GRIN2B): c.2084T> C (p.Ile695Thr) single nucleotide variant Pathogenic rs876661219 12:13724825-13724825 12:13571891-13571891
3 EBF3 NM_001005463.3(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 10:131755588-131755588 10:129957324-129957324
4 EBF3 NM_001005463.3(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 10:131755588-131755588 10:129957324-129957324
5 GRIN2B NM_000834.4(GRIN2B): c.2116A> G (p.Met706Val) single nucleotide variant Likely pathogenic rs1057518988 12:13724793-13724793 12:13571859-13571859
6 MT-ND4 NC_012920.1: m.11896C> G single nucleotide variant Uncertain significance rs1057516065 MT:11896-11896 MT:11896-11896
7 MT-CYB NC_012920.1: m.15127C> T single nucleotide variant Uncertain significance rs1057516074 MT:15127-15127 MT:15127-15127
8 DNMT1 NM_001130823.3(DNMT1): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs1057518769 19:10291080-10291080 19:10180404-10180404

UniProtKB/Swiss-Prot genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

74
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Pro VAR_000794 rs199476133

Expression for Ataxia and Polyneuropathy, Adult-Onset

Search GEO for disease gene expression data for Ataxia and Polyneuropathy, Adult-Onset.

Pathways for Ataxia and Polyneuropathy, Adult-Onset

GO Terms for Ataxia and Polyneuropathy, Adult-Onset

Cellular components related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.98 MT-ND4L MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6
2 mitochondrion GO:0005739 9.76 MT-ND4 MT-ND3 MT-CO3 MT-ATP8
3 respiratory chain GO:0070469 9.5 MT-ND4L MT-ND4 MT-ND3
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND4L MT-ND4 MT-ND3
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP8 MT-ATP6
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP8 MT-ATP6
7 mitochondrial membrane GO:0031966 9.26 MT-ND4L MT-ND4 MT-ND3 MT-ATP8
8 NADH dehydrogenase complex GO:0030964 9.16 MT-ND4L MT-ND3
9 mitochondrial inner membrane GO:0005743 9.02 MT-ND4 MT-ND3 MT-CO3 MT-ATP8 MT-ATP6

Biological processes related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.46 MT-ND4 GRIN2B
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND4 MT-ND3
3 aerobic respiration GO:0009060 9.4 MT-ND4 MT-CO3
4 cristae formation GO:0042407 9.37 MT-ATP8 MT-ATP6
5 ATP biosynthetic process GO:0006754 9.32 MT-ATP8 MT-ATP6
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP8 MT-ATP6
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP8 MT-ATP6
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4L MT-ND4
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND4L MT-ND4 MT-ND3

Molecular functions related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP8 MT-ATP6
2 oxidoreductase activity GO:0016491 8.85 MT-ND4L
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND4L MT-ND4 MT-ND3

Sources for Ataxia and Polyneuropathy, Adult-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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