APAO
MCID: ATX038
MIFTS: 45

Ataxia and Polyneuropathy, Adult-Onset (APAO)

Categories: Genetic diseases, Metabolic 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 72 6
Adult-Onset Ataxia and Polyneuropathy 12 15
Ataxia 44 39
Apao 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0111750
OMIM® 57 500010
ICD10 32 R27.0
MedGen 41 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

Disease Ontology : 12 A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has material basis in heteroplasmic mutation in the mitochondrial gene MTATP6.

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as adult-onset ataxia and polyneuropathy, is related to cohen syndrome and friedreich ataxia. 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 is Prion disease. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and breast.

UniProtKB/Swiss-Prot : 72 Ataxia and polyneuropathy, adult-onset: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

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 2174)
# Related Disease Score Top Affiliating Genes
1 cohen syndrome 28.4 GRIN2B EBF3
2 friedreich ataxia 11.8
3 ataxia-telangiectasia 11.8
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
5 spastic ataxia, charlevoix-saguenay type 11.7
6 episodic ataxia, type 2 11.7
7 autosomal dominant cerebellar ataxia 11.7
8 anemia, sideroblastic, and spinocerebellar ataxia 11.6
9 spinocerebellar ataxia 2 11.6
10 machado-joseph disease 11.6
11 mitochondrial dna depletion syndrome 7 11.6
12 spinocerebellar ataxia, autosomal recessive 8 11.6
13 spinocerebellar ataxia 1 11.6
14 spinocerebellar ataxia 7 11.6
15 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.6
16 spinocerebellar ataxia 6 11.6
17 spinocerebellar ataxia 29 11.6
18 spinocerebellar ataxia 34 11.6
19 gordon holmes syndrome 11.6
20 spinocerebellar ataxia 15 11.6
21 episodic ataxia 11.6
22 episodic ataxia, type 1 11.6
23 spinocerebellar ataxia 10 11.5
24 spinocerebellar ataxia 31 11.5
25 boucher-neuhauser syndrome 11.5
26 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.5
27 spinocerebellar ataxia, autosomal recessive 4 11.5
28 spinocerebellar ataxia 36 11.5
29 neuropathy, ataxia, and retinitis pigmentosa 11.5
30 spinocerebellar ataxia 27 11.5
31 spinocerebellar ataxia 20 11.5
32 spinocerebellar ataxia 21 11.5
33 spinocerebellar ataxia 17 11.5
34 spinocerebellar ataxia 14 11.5
35 spinocerebellar ataxia 23 11.5
36 spinocerebellar ataxia 26 11.5
37 gillespie syndrome 11.5
38 hereditary ataxia 11.5
39 spinocerebellar ataxia 8 11.5
40 spinocerebellar ataxia 13 11.5
41 ataxia with vitamin e deficiency 11.5
42 spinocerebellar ataxia 12 11.5
43 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 11.5
44 spinocerebellar ataxia 28 11.5
45 spinocerebellar ataxia, autosomal recessive 3 11.5
46 spinocerebellar ataxia, autosomal recessive 7 11.5
47 ataxia with vitamin 3 deficiency 11.5
48 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.5
49 spinocerebellar ataxia 11 11.5
50 coenzyme q10 deficiency, primary, 4 11.5

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 (Updated 05-Apr-2021)

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 244)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Clonidine Approved Phase 4 4205-90-7 2803
4
Metformin Approved Phase 4 657-24-9 4091 14219
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
9
Amantadine Approved Phase 4 768-94-5 2130
10
Phenylephrine Approved Phase 4 59-42-7 6041
11
Promethazine Approved, Investigational Phase 4 60-87-7 4927
12
Zolpidem Approved Phase 4 82626-48-0 5732
13
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
14
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
15
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
17
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
18
Dexetimide Withdrawn Phase 4 21888-98-2
19 Antihypertensive Agents Phase 4
20 insulin Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Adrenergic Agonists Phase 4
23 Mitogens Phase 4
24 Estradiol 3-benzoate Phase 4
25 Adrenergic Agents Phase 4
26 Estradiol 17 beta-cypionate Phase 4
27 Sympatholytics Phase 4
28 Contraceptive Agents Phase 4
29 Estrogens Phase 4
30 Insulin, Globin Zinc Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Analgesics Phase 4
33 Hypoglycemic Agents Phase 4
34 Neurotransmitter Agents Phase 4
35 Cholinergic Agents Phase 4
36 Dopamine Agents Phase 4
37 Psychotropic Drugs Phase 4
38 Antidepressive Agents Phase 4
39 Cytochrome P-450 Enzyme Inhibitors Phase 4
40 Dopamine Uptake Inhibitors Phase 4
41 Parasympatholytics Phase 4
42 Muscarinic Antagonists Phase 4
43 Serotonin Uptake Inhibitors Phase 4
44 Cholinergic Antagonists Phase 4
45 Antiparkinson Agents Phase 4
46 GABA Agonists Phase 4
47 Hypnotics and Sedatives Phase 4
48 Nootropic Agents Phase 4
49 TA 0910 Phase 4
50 Vasoconstrictor Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 239)
# 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 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 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
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 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
6 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
7 Pilot Trial About the Effects of Calcitriol's Treatment in the Neurological Function and Frataxin's Level in Friedreich's Ataxia Patients Not yet recruiting NCT04801303 Phase 4 Calcitriol
8 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
9 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Unknown status NCT02918760 Phase 3 Gabapentin
10 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Unknown status NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
11 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
12 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
13 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
14 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
15 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
16 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
17 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
18 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
19 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
20 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
21 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
22 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
23 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
24 Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia Completed NCT03816540 Phase 3
25 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
26 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
27 A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA) Recruiting NCT04577352 Phase 2, Phase 3 Vatiquinone;Placebo
28 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
29 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
30 A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG Recruiting NCT04679389 Phase 2, Phase 3 Placebo;Acetazolamide
31 A Randomized, Double-Blind, Controlled, Phase 2/3 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia Active, not recruiting NCT04102501 Phase 3 RT001;Placebo
32 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo;Troriluzole
33 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
34 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
35 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
36 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Unknown status NCT03962114 Phase 2
37 Effect of Nilotinib in Cerebellar Ataxia Patients Unknown status NCT03932669 Phase 2 Nilotinib
38 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
39 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
40 Clinical Study to Evaluate the Safety and Efficacy of Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Cerebellar Ataxia .It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01958177 Phase 1, Phase 2
41 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
42 Pharmacodynamic Studies of a Histone Deacetylase Inhibitor in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
43 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
44 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, 28 Day, Three-arm, Parallel Group Study of A0001 in the Treatment of Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
45 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
46 A Six Month Double-Blind, Placebo-Controlled Phase 2 Clinical Trial to Determine the Safety and Efficacy of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
47 A Double-Blind, Placebo-controlled Study on the Effects of MIN-102 on Biochemical, Imaging, Neurophisyiological, and Clinical Markers in Patients With Friedreich's Ataxia Completed NCT03917225 Phase 2 MIN-102;Placebo
48 A Double-blind, Randomized, Placebo-controlled, Clinical Trial to Test the Efficacy of Epoetin Alfa on Physical Performance of Friedreich Ataxia Patients. Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
49 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
50 Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa

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:

40
Brain, Cerebellum, Breast, Lung, Spinal Cord, Eye, Liver

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. 61 57 6
18055910 2007
2
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 61 6 57
16049925 2005
3
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 6 61
28017372 2017
4
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. 61 6
9568930 1998
5
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. 6 61
8644724 1996
6
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. 6
11916326 2001
7
A family with Leigh syndrome caused by the rarer T8993C mutation. 6
9762610 1998
8
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 6
8602753 1996
9
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. 6
8750605 1995
10
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. 6
3612192 1987
11
Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A. 61
33786385 2021
12
Hendra virus: Epidemiology dynamics in relation to climate change, diagnostic tests and control measures. 61
33363250 2021
13
ISG15 attenuates post-translational modifications of mitofusins and congression of damaged mitochondria in Ataxia Telangiectasia cells. 61
33617986 2021
14
Evaluation of prognostic variables in chronic lymphocytic leukemia and association with disease stage. 61
33796290 2021
15
Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression. 61
33577922 2021
16
Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease. 61
33516872 2021
17
Longitudinally Extensive Myelitis Associated With Immune Checkpoint Inhibitors. 61
33637598 2021
18
Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. 61
32424773 2021
19
Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges. 61
33078399 2021
20
Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia. 61
33592237 2021
21
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study. 61
33588035 2021
22
A case report of Joubert syndrome with renal involvement and seizures in a neonate. 61
33717386 2021
23
3-Hz Postural Tremor in MSA-C and SCA: Revisiting an Old but Underestimated Cerebellar Sign by Posturography. 61
33164129 2021
24
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study. 61
33106888 2021
25
Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact. 61
33084997 2021
26
Tremor-Dominant Cervical Dystonia: a Cerebellar Syndrome. 61
33161481 2021
27
High-resolution MR imaging of cranial neuropathy in patients with anti-GQ1b antibody syndrome. 61
33677393 2021
28
Superficial siderosis of the central nervous system associated with ventral dural defects: bleeding from the epidural venous plexus. 61
33389031 2021
29
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. 61
33086386 2021
30
Molecular detection and genotype identification of E. cuniculi from pet rabbits. 61
33524813 2021
31
Comparison of sedation quality and safety of detomidine and romifidine as a continuous rate infusion for standing elective laparoscopic ovariectomy in mares. 61
33797093 2021
32
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. 61
33811157 2021
33
Status dystonicus associated with CLN8 disease. 61
33358637 2021
34
Auditory impairment in H-ABC tubulinopathy. 61
32681585 2021
35
Fibroblasts from Retinoblastoma Patients Show Radiosensitivity Linked to Abnormal Localization of the ATM Protein. 61
32862699 2021
36
Synthesis of 4,6-diphenylpyrimidin-2-ol derivatives as new benzodiazepine receptor ligands. 61
33631464 2021
37
Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. 61
33709453 2021
38
Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1. 61
33063293 2021
39
ATM: Translating the DNA Damage Response to Adaptive Immunity. 61
33663955 2021
40
Abnormal expression of p-ATM/CHK2 in nasal extranodal NK/T cell lymphoma, nasal type, is correlated with poor prognosis. 61
32220941 2021
41
A triskelion of nucleic acids drives protein aggregation in A-T. 61
33798413 2021
42
Poly-ADP-ribosylation drives loss of protein homeostasis in ATM and Mre11 deficiency. 61
33571423 2021
43
The Hammer and the Dance of Cell Cycle Control. 61
33279370 2021
44
ATM inhibitor KU-55933 induces apoptosis and inhibits motility by blocking GLUT1-mediated glucose uptake in aggressive cancer cells with sustained activation of Akt. 61
33715230 2021
45
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. 61
33231275 2021
46
Dysarthria in children and adults with ataxia telangiectasia. 61
33521952 2021
47
Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers. 61
33509806 2021
48
Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene. 61
33680116 2021
49
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. 61
33811753 2021
50
Microvascular decompression for trigeminal neuralgia attributable to the vertebrobasilar artery: decompression technique and significance of separation from the nerve root. 61
32901396 2021

Variations for Ataxia and Polyneuropathy, Adult-Onset

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EBF3 NM_001005463.3(EBF3):c.488G>T (p.Arg163Leu) SNV Pathogenic 268155 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
2 MT-ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
3 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) SNV Pathogenic 268156 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
4 GRIN2B NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr) SNV Likely pathogenic 234790 rs876661219 GRCh37: 12:13724825-13724825
GRCh38: 12:13571891-13571891
5 GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val) SNV Likely pathogenic 374226 rs1057518988 GRCh37: 12:13724793-13724793
GRCh38: 12:13571859-13571859
6 MT-CYB NC_012920.1:m.15127C>T SNV Uncertain significance 370064 rs1057516074 GRCh37: MT:15127-15127
GRCh38: MT:15127-15127
7 MT-ND4 NC_012920.1:m.11896C>G SNV Uncertain significance 370054 rs1057516065 GRCh37: MT:11896-11896
GRCh38: MT:11896-11896
8 DNMT1 NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) SNV Uncertain significance 373918 rs1057518769 GRCh37: 19:10291080-10291080
GRCh38: 19:10180404-10180404

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 MT-ATP6 GRIN2B

GO Terms for Ataxia and Polyneuropathy, Adult-Onset

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.62 MT-ATP6 GRIN2B

Sources for Ataxia and Polyneuropathy, Adult-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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