MCID: SPR100
MIFTS: 27

Supranuclear Palsy, Progressive Atypical malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Supranuclear Palsy, Progressive Atypical

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Supranuclear Palsy, Progressive Atypical:

Name: Supranuclear Palsy, Progressive Atypical 50 12
Parkinson-Dementia Syndrome 68 25
Parkinson-Dementia Syndrome Supranuclear Palsy, Progressive, 1, Atypical, Included 50
Progressive Supranuclear Palsy-Parkinsonism Syndrome 52
Atypical Progressive Supranuclear Palsy Syndrome 52
Steele-Richardson-Olszewski Syndrome Atypical 68
Supranuclear Palsy, Progressive, 1, Atypical 66
 
Supranuclear Palsy Progressive 1 Atypical 68
Progressive Supranuclear Palsy Atypical 46
Atypical Psp Syndrome 52
Psp-Parkinsonism 52
Atypical Psp 46
Psp-P 52
Parde 68

Characteristics:

Orphanet epidemiological data:

52
progressive supranuclear palsy-parkinsonism syndrome:
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly
atypical progressive supranuclear palsy syndrome:
Prevalence: 1-9/100000 (Europe)

HPO:

62
supranuclear palsy, progressive atypical:
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 260540
ICD10 via Orphanet29 G23.1
MESH via Orphanet38 C537240
UMLS via Orphanet67 C1850077
MeSH37 D013494
ICD1028 F02.3

Summaries for Supranuclear Palsy, Progressive Atypical

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UniProtKB/Swiss-Prot:68 Parkinson-dementia syndrome: A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei.

MalaCards based summary: Supranuclear Palsy, Progressive Atypical, also known as parkinson-dementia syndrome, is related to supranuclear palsy, progressive and apraxia, and has symptoms including ophthalmoparesis, dementia and parkinsonism. An important gene associated with Supranuclear Palsy, Progressive Atypical is MAPT (Microtubule Associated Protein Tau). Affiliated tissues include eye.

Description from OMIM:50 260540

Related Diseases for Supranuclear Palsy, Progressive Atypical

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Diseases related to Supranuclear Palsy, Progressive Atypical via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1supranuclear palsy, progressive10.1
2apraxia9.9
3dementia9.9

Symptoms for Supranuclear Palsy, Progressive Atypical

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Symptoms by clinical synopsis from OMIM:

260540

Clinical features from OMIM:

260540

HPO human phenotypes related to Supranuclear Palsy, Progressive Atypical:

(show all 8)
id Description Frequency HPO Source Accession
1 ophthalmoparesis HP:0000597
2 dementia HP:0000726
3 parkinsonism HP:0001300
4 tremor HP:0001337
5 morphological abnormality of the pyramidal tract HP:0002062
6 rigidity HP:0002063
7 kyphoscoliosis HP:0002751
8 abnormal pyramidal signs HP:0007256

Drugs & Therapeutics for Supranuclear Palsy, Progressive Atypical

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MinocyclinePhase 321610118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
HMS2090D03
HSDB 3130
 
LMPK07000002
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline (USAN/INN)
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
minociclinum
minocycline
nchembio.559-comp1
2UbiquinonePhase 2, Phase 3132
3
Coenzyme Q10NutraceuticalPhase 2, Phase 3108303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q-10
Coenzyme Q10
Ensorb
Kaneka Q10
 
Kudesan
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10
4FluoridesPhase 0405

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP)CompletedNCT00382824Phase 2, Phase 3
2Effects of Coenzyme Q10 in PSP and CBDCompletedNCT00532571Phase 2, Phase 3
3Study About Efficacy and Safety to Treat Multi-System-AtrophyCompletedNCT00146809Phase 3
4Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's DiseaseCompletedNCT02243982Phase 0
5Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal DegenerationCompletedNCT01174771
6Risk Factors for Progressive Supranuclear Palsy (PSP)CompletedNCT00431301
7Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear PalsyCompletedNCT02734485
8Research of Biomarkers in Parkinson DiseaseCompletedNCT00465790Phase 0
9PROgressive Supranuclear Palsy CorTico-Basal Syndrome Multiple System Atrophy Longitudinal Study UKRecruitingNCT02778607
10Parkinson's Disease, Diagnostic Observations (PADDO)RecruitingNCT01249768
11Study for the Early Diagnosis of Parkinson's DiseaseRecruitingNCT02283073
12Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesActive, not recruitingNCT00368199Phase 0
13PET/MR Imaging in Patients With Short and Long Standing Parkinson's DiseaseNot yet recruitingNCT02801110

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Genetic Tests for Supranuclear Palsy, Progressive Atypical

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Genetic tests related to Supranuclear Palsy, Progressive Atypical:

id Genetic test Affiliating Genes
1 Parkinson-Dementia Syndrome25

Anatomical Context for Supranuclear Palsy, Progressive Atypical

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MalaCards organs/tissues related to Supranuclear Palsy, Progressive Atypical:

34
Eye

Animal Models for Supranuclear Palsy, Progressive Atypical or affiliated genes

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Publications for Supranuclear Palsy, Progressive Atypical

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Variations for Supranuclear Palsy, Progressive Atypical

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Expression for genes affiliated with Supranuclear Palsy, Progressive Atypical

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Search GEO for disease gene expression data for Supranuclear Palsy, Progressive Atypical.

Pathways for genes affiliated with Supranuclear Palsy, Progressive Atypical

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GO Terms for genes affiliated with Supranuclear Palsy, Progressive Atypical

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Sources for Supranuclear Palsy, Progressive Atypical

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet