MCID: CLS047
MIFTS: 33

Classic Progressive Supranuclear Palsy Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Classic Progressive Supranuclear Palsy Syndrome

MalaCards integrated aliases for Classic Progressive Supranuclear Palsy Syndrome:

Name: Classic Progressive Supranuclear Palsy Syndrome 58
Steele-Richardson-Olszewski Disease 58
Progressive Supranuclear Palsy 71
Classic Psp Syndrome 58
Richardson Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
classic progressive supranuclear palsy syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 G23.1
UMLS via Orphanet 72 C0038868
Orphanet 58 ORPHA240071
UMLS 71 C0038868

Summaries for Classic Progressive Supranuclear Palsy Syndrome

MalaCards based summary : Classic Progressive Supranuclear Palsy Syndrome, also known as steele-richardson-olszewski disease, is related to atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease and noonan syndrome with multiple lentigines, and has symptoms including seizures, tremor and photophobia. An important gene associated with Classic Progressive Supranuclear Palsy Syndrome is MAPT (Microtubule Associated Protein Tau). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and skin, and related phenotypes are postural instability and falls

Related Diseases for Classic Progressive Supranuclear Palsy Syndrome

Graphical network of the top 20 diseases related to Classic Progressive Supranuclear Palsy Syndrome:



Diseases related to Classic Progressive Supranuclear Palsy Syndrome

Symptoms & Phenotypes for Classic Progressive Supranuclear Palsy Syndrome

Human phenotypes related to Classic Progressive Supranuclear Palsy Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
2 falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002527
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
5 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
6 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
7 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
8 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
9 impulsivity 58 31 frequent (33%) Frequent (79-30%) HP:0100710
10 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622
11 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
12 slowed slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0007164
13 decreased lacrimation 58 31 frequent (33%) Frequent (79-30%) HP:0000633
14 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
15 conjunctival hyperemia 58 31 frequent (33%) Frequent (79-30%) HP:0030953
16 progressive extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007158
17 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
18 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
19 akinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002304
20 parkinsonism with favorable response to dopaminergic medication 58 31 occasional (7.5%) Occasional (29-5%) HP:0002548
21 neuromuscular dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002068
22 social and occupational deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0007086
23 axial muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0006921
24 mental deterioration 58 Very frequent (99-80%)
25 dystonia 58 Occasional (29-5%)
26 parkinsonism 58 Frequent (79-30%)
27 supranuclear gaze palsy 58 Frequent (79-30%)
28 abnormal saccadic eye movements 58 Frequent (79-30%)

UMLS symptoms related to Classic Progressive Supranuclear Palsy Syndrome:


seizures, tremor, photophobia, back pain, ophthalmoplegia, headache, syncope, pain, bradykinesia, chronic pain, sciatica, vertigo/dizziness, sleeplessness, forgetful, muscle rigidity, poor mobility

Drugs & Therapeutics for Classic Progressive Supranuclear Palsy Syndrome

Drugs for Classic Progressive Supranuclear Palsy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 4 1401-55-4
3
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
4
Zolpidem Approved Phase 4 82626-48-0 5732
5
Suvorexant Approved, Investigational Phase 4 1030377-33-3
6
Promethazine Approved, Investigational Phase 4 60-87-7 4927
7 Neurotransmitter Agents Phase 4
8 Hypnotics and Sedatives Phase 4
9 GABA Agonists Phase 4
10
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
11
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
12
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
13
Rasagiline Approved Phase 3 136236-51-6 3052776
14
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
15 Cholinesterase Inhibitors Phase 3
16 Cholinergic Agents Phase 3
17 Trace Elements Phase 2, Phase 3
18 Ubiquinone Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3
20 Micronutrients Phase 2, Phase 3
21 Nutrients Phase 2, Phase 3
22 Anticonvulsants Phase 3
23 Excitatory Amino Acid Antagonists Phase 3
24 Protective Agents Phase 3
25 Neuroprotective Agents Phase 3
26 Monoamine Oxidase Inhibitors Phase 3
27
Donepezil Approved Phase 2 120014-06-4 3152
28
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
29
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
30
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8 7045767
31
Tolfenamic acid Approved, Investigational Phase 1, Phase 2 13710-19-5 610479
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
33 Fasudil Investigational Phase 2 103745-39-7
34 Anesthetics Phase 1, Phase 2
35 Antidepressive Agents Phase 1, Phase 2
36 Psychotropic Drugs Phase 1, Phase 2
37 Vitamin B Complex Phase 1, Phase 2
38 Folate Phase 1, Phase 2
39 Vitamin B9 Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2
41 Alpha-lipoic Acid Phase 1, Phase 2
42 carnitine Phase 1, Phase 2
43 Thioctic Acid Phase 1, Phase 2
44 Protein Kinase Inhibitors Phase 2
45 Vasodilator Agents Phase 2
46 Hormones Phase 1, Phase 2
47 Calcium, Dietary Phase 1, Phase 2
48 calcium channel blockers Phase 1, Phase 2
49 Anti-Inflammatory Agents Phase 1, Phase 2
50 Analgesics, Non-Narcotic Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
2 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Unknown status NCT02839642 Phase 3 Rivastigmine;Placebo
3 A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3 Davunetide;Placebo
4 Effects of Coenzyme Q10 in PSP and CBD, A Randomized, Placebo-Controlled, Double Blind Cross Over Pilot Study Completed NCT00532571 Phase 2, Phase 3 CoQ10
5 A Multicentre, Phase 3, Clinical Study to Compare the Striatal Uptake of a Dopamine Transporter Radioligand, DaTSCAN™ Ioflupane (123I) Injection, After Intravenous Administration to Chinese Patients With a Diagnosis of Parkinson's Disease, Multiple System Atrophy, Progressive Supranuclear Palsy, or Essential Tremor and to Healthy Controls Recruiting NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
6 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
7 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of Rasagiline in Subjects With Progressive Supranuclear Palsy (Phase III) Terminated NCT01187888 Phase 3 Rasagiline;Sugar pill
8 Autologous Mesenchymal Stem Cell Therapy in Progressive Supranuclear Palsy: a Randomized, Double-blind, Controlled Clinical Trial Unknown status NCT01824121 Phase 1, Phase 2
9 Rivastigmine (Exelon®) for Treatment of Dementia in Patient With Progressive Supranuclear Paresis Open Label Phase 2 Study Unknown status NCT00522015 Phase 2 rivastigmine
10 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
11 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
12 Dose-Escalation Trial of Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor for the Treatment of PSP Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
13 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
14 Mono-center, Prospective, Double-blind, Placebo-controlled, Randomized Clinical Phase IIa Trial to Assess the Safety, Tolerability, and Immediate Biological Effects of Coenzyme Q10 - nanoQuinon® in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2 Coenzyme Q10
15 An Open-label Trial of Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy (PSP): Effect Upon Oxidative Damage and Mitochondrial Biomarkers Completed NCT01537549 Phase 1, Phase 2 alpha-lipoic acid and L-acetyl carnitine
16 A Phase 2a Open-Label Preliminary Safety, Tolerability, and Biomarker Study of Oral Fasudil in Patients With the 4-Repeat Tauopathies of Progressive Supranuclear Palsy-Richardson Syndrome or Corticobasal Syndrome. Recruiting NCT04734379 Phase 2 Fasudil
17 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Assess Tolerability, Safety, Pharmacokinetics and Effect of AZP2006 on Cerebrospinal Fluid Biomarkers in 36 Patients With Progressive Supranuclear Palsy Recruiting NCT04008355 Phase 2 AZP2006 oral solution;Placebo oral solution
18 A Pilot Exploratory, Randomised, Placebo-controlled, Double Blinded, Cross-over , Phase 2a Study to Explore Efficacy and Safety of NBMI Treatment in Patients With Progressive Supranuclear Palsy (PSP) or Multiple System Atrophy (MSA) Recruiting NCT04184063 Phase 2 NBMI
19 A Phase 2a Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Tolfenamic Acid for the Treatment of Progressive Supranuclear Palsy Not yet recruiting NCT04253132 Phase 1, Phase 2 Tolfenamic Acid;Placebos
20 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Terminated NCT03391765 Phase 2 ABBV-8E12;Placebo solution for IV infusion on Day 15
21 A Randomized, Double-Blind, Placebo-Controlled Multiple Dose Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Terminated NCT02985879 Phase 2 Placebo;ABBV-8E12
22 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Intravenously Administered BIIB092 in Participants With Progressive Supranuclear Palsy Terminated NCT03068468 Phase 2 BIIB092;Placebo
23 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Unknown status NCT02422485 Phase 1 Salsalate
24 18F-AV-1451 Injection for Brain Imaging of Tau in Subjects With Progressive Supranuclear Palsy (PSP), Subjects With Corticobasal Degeneration (CBD) and Healthy Volunteers Completed NCT02167594 Phase 1 Flortaucipir F18
25 A Double-Blind, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear Palsy Completed NCT02494024 Phase 1 Single dose C2N-8E12;Single dose placebo
26 Extension Study of ABBV-8E12 in Patients With Progressive Supranuclear Palsy (PSP) Who Completed Study C2N-8E12-WW-104 Completed NCT03413319 Phase 1 ABBV-8E12
27 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Monthly Young Healthy Male Donor Plasma Transfusions for Progressive Supranuclear Palsy Completed NCT02460731 Phase 1
28 A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear Palsy Completed NCT02460094 Phase 1 BIIB092;Placebo
29 A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Sequential Cohort, Dose-Ranging Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of TPI 287 in Patients With Primary Four Repeat Tauopathies: Corticobasal Syndrome or Progressive Supranuclear Palsy Completed NCT02133846 Phase 1 TPI 287 2 mg/m2;TPI-287 20 mg/m2;Placebo;TPI-287 6.3 mg/m2
30 An Open Label, Single Center Study to Evaluate the Safety and Imaging Characteristics of [18F]PI-2620 as PET Radioligand for Imaging Tau Deposition in the Brains of Patients With Mild to Moderate Alzheimer's Disease (AD) and Patients With Progressive Supranuclear Palsy (PSP) After i.v. Application of [18F]PI-2620 With High and Low Specific Activity Recruiting NCT04715750 Phase 1 [18F]-PI2620
31 A Participant-Blind, Investigator-Blind, Placebo-Controlled, Phase 1b Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of UCB0107 in Study Participants With Progressive Supranuclear Palsy (PSP) Active, not recruiting NCT04185415 Phase 1 bepranemab;Placebo
32 An Open-Label Extension Study to Evaluate the Safety and Tolerability of Long-Term UCB0107 Administration in Study Participants With Progressive Supranuclear Palsy Enrolling by invitation NCT04658199 Phase 1 UCB0107 (bepranemab)
33 A Randomized, Participant, Investigator and Sponsor Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Multiple Ascending Doses of Intrathecally Administered NIO752 in Participants With Progressive Supranuclear Palsy Not yet recruiting NCT04539041 Phase 1 antisense oligonucleotide;placebo
34 A Multicenter, Open-Label, Long-Term Treatment Study of Intravenously Administered BIIB092 in Patients With Progressive Supranuclear Palsy Who Participated in Study CN002003 Terminated NCT02658916 Phase 1 BIIB092
35 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Unknown status NCT03330353
36 tDCS Plus Physical Therapy for Progressive Supranuclear Palsy: a Double Blind Randomized Sham-controlled Study With Wearing Sensors Technology Completed NCT04237948
37 The Use of Deep TMS for the Treatment and Rehabilitation of Patients With Parkinson's Disease and Progressive Supranuclear Palsy Completed NCT02734485
38 The Role of the Neuropsychological Evaluation for Early Diagnosis of Progressive Supranuclear Palsy Completed NCT03478124
39 Noninvasive Cortical Stimulation (rTMS) for Motor and Non-Motor Features of Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) Completed NCT01174771
40 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP): A Multicenter, Randomized, Placebo-controlled, Double Blind Study Completed NCT00382824
41 Rehabilitation in Patients With Progressive Supranuclear Palsy: Effectiveness of Two Intensive Protocols Completed NCT02109393
42 Energy Metabolism in Neurodegenerative Diseases: A Randomized, Double Blind, Placebo-Controlled Clinical Pilot Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy. Completed NCT00605930
43 Genetic and Environmental Risk Factors for PSP Completed NCT00431301
44 A Double-Blind, Placebo-Controlled, Randomized, Parallel-Group Study Evaluating the Safety, Tolerability, and Efficacy of Two Different Oral Doses of NP031112, a GSK-3 Inhibitor, Versus Placebo in the Treatment of Patients With Mild-to-Moderate Progressive Supranuclear Palsy Completed NCT01049399 tideglusib;tideglusib;placebo
45 Phase 0 Evaluation of [18F]MNI-952 as a Potential PET Radioligand for Imaging Tau Protein in the Brain of Patients With Progressive Supranuclear Palsy or Alzheimer's Disease Compared to Healthy Volunteers Completed NCT03080051 Early Phase 1 [18F]MNI-952;[18F]Florbetapir
46 Postural Instability in Progressive Supranuclear Palsy: Why do Patients With PSP Fall? Completed NCT01563276
47 Pilot, Exploratory Study With [F18]-FDDNP-PET for in Vivo Diagnose of Tauopathy in Unclassified Parkinsonism Completed NCT02214862 Early Phase 1 [F18]-FDDNP
48 Cerebellar rTMS Theta Burst for Postural Instability in Progressive Supranuclear Palsy: a Double Blind Cross-over Sham-controlled Study Using Wearing Sensors Technology Completed NCT04222218
49 Pathophysiology of Gait and Posture in Progressive Supranuclear Palsy Completed NCT04096651
50 Experimental Medicine Study to Evaluate the Kinetics of Cerebrospinal Fluid Biomarkers in Subjects With Alzheimer's Disease and Progressive Supranuclear Palsy Compared to Healthy Subjects Using a Heavy Water Labeling Method Completed NCT01348061

Search NIH Clinical Center for Classic Progressive Supranuclear Palsy Syndrome

Genetic Tests for Classic Progressive Supranuclear Palsy Syndrome

Anatomical Context for Classic Progressive Supranuclear Palsy Syndrome

MalaCards organs/tissues related to Classic Progressive Supranuclear Palsy Syndrome:

40
Eye, Spinal Cord, Skin

Publications for Classic Progressive Supranuclear Palsy Syndrome

Articles related to Classic Progressive Supranuclear Palsy Syndrome:

(show all 23)
# Title Authors PMID Year
1
Familial aggregation of parkinsonism in progressive supranuclear palsy. 6
19458322 2009
2
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. 6
16157753 2005
3
An English kindred with a novel recessive tauopathy and respiratory failure. 6
14595660 2003
4
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. 6
11402146 2001
5
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. 6
11255441 2001
6
Untangling tau-related dementia. 6
10767321 2000
7
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 6
9789048 1998
8
Tau is a candidate gene for chromosome 17 frontotemporal dementia. 6
9629852 1998
9
Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsy. 61
15459024 2004
10
Accuracy of clinical diagnosis of progressive supranuclear palsy. 61
14978673 2004
11
Progressive supranuclear palsy: where are we now? 61
12849397 2002
12
Progressive supranuclear palsy (Steele-Richardson-Olszewski disease). 61
10621897 1999
13
[Cortical lesions in progressive supranuclear palsy (Steele-Richardson-Olszewski disease)]. 61
10093844 1999
14
A panencephalopathic type of Creutzfeldt-Jakob disease with selective lesions of the thalamic nuclei in 2 Swiss patients. 61
8793245 1996
15
The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal. 61
7600092 1995
16
Some specific clinical features differentiate multiple system atrophy (striatonigral variety) from Parkinson's disease. 61
7872884 1995
17
Neuropathology of Parkinson's disease and related syndromes. 61
1584179 1992
18
[Progressive supranuclear paralysis (Steele Richardson-Olszewski disease). After twenty-one years]. 61
2148381 1990
19
[A case of Steel-Richardson-Olszewski syndrome]. 61
1720223 1990
20
[Atypical onset of Steele-Richardson-Olszewski disease]. 61
3368689 1988
21
[The neuropathology of Parkinson syndrome]. 61
2843979 1988
22
[2 cases of isolated dystonia of the upper limb as an early sign of Steele-Richardson-Olszewski disease]. 61
3602792 1987
23
[Steele-Richardson-Olszewski disease without ophthalmoplegia. 6 clinico-anatomic cases]. 61
6612148 1983

Variations for Classic Progressive Supranuclear Palsy Syndrome

ClinVar genetic disease variations for Classic Progressive Supranuclear Palsy Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_005910.5(MAPT):c.14G>T (p.Arg5Leu) SNV Pathogenic 14263 rs63750959 17:44039717-44039717 17:45962351-45962351
2 MAPT NM_005910.5(MAPT):c.1055C>T (p.Ser352Leu) SNV Pathogenic 14267 rs63750425 17:44096041-44096041 17:46018675-46018675
3 MAPT NM_016841.5(MAPT):c.649-3848G>T SNV Pathogenic 14269 rs63751391 17:44087761-44087761 17:46010395-46010395
4 MAPT NM_005910.5(MAPT):c.902C>T (p.Pro301Leu) SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
5 MAPT NM_005910.5(MAPT):c.837T>G (p.Asn279Lys) SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
6 MAPT NM_005910.5(MAPT):c.902C>T (p.Pro301Leu) SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
7 MAPT NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp) SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
8 MAPT NM_005910.5(MAPT):c.374-3346C>T SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694
9 MAPT NM_001123066.3(MAPT):c.664C>A (p.Arg222Ser) SNV Uncertain significance 638372 rs150983093 17:44060834-44060834 17:45983468-45983468
10 MAPT NM_005910.5(MAPT):c.374-3613del Deletion Uncertain significance 225409 rs773149360 17:44060789-44060789 17:45983423-45983423
11 MAPT NM_016841.5(MAPT):c.47G>T (p.Gly16Val) SNV Uncertain significance 548576 rs755131800 17:44039750-44039750 17:45962384-45962384

Expression for Classic Progressive Supranuclear Palsy Syndrome

Search GEO for disease gene expression data for Classic Progressive Supranuclear Palsy Syndrome.

Pathways for Classic Progressive Supranuclear Palsy Syndrome

GO Terms for Classic Progressive Supranuclear Palsy Syndrome

Sources for Classic Progressive Supranuclear Palsy Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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