MCID: SPR100
MIFTS: 21

Supranuclear Palsy, Progressive Atypical malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories

Aliases & Classifications for Supranuclear Palsy, Progressive Atypical

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Supranuclear Palsy, Progressive Atypical:

Name: Supranuclear Palsy, Progressive Atypical 49 11
Atypical Psp 45 51
Steele-Richardson-Olszewski Syndrome Atypical 67
Supranuclear Palsy, Progressive, 1, Atypical 65
Supranuclear Palsy Progressive 1 Atypical 67
 
Progressive Supranuclear Palsy Atypical 45
Atypical Progressive Supranuclear Palsy 51
Parkinson-Dementia Syndrome 67
Parde 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
atypical psp:
Prevalence: 1-9/100000 (Europe)


External Ids:

OMIM49 260540
Orphanet51 99750
ICD10 via Orphanet28 G23.1
MESH via Orphanet37 C537240
UMLS via Orphanet66 C1850077
MeSH36 D013494

Summaries for Supranuclear Palsy, Progressive Atypical

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UniProtKB/Swiss-Prot:67 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 atypical psp, is related to supranuclear palsy, progressive and lateral sclerosis, 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:49 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, progressive10.3
2lateral sclerosis10.3
3aphasia10.3
4apraxia10.3
5dementia10.1

Graphical network of diseases related to Supranuclear Palsy, Progressive Atypical:



Diseases related to supranuclear palsy, progressive atypical

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 9)
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 adult onset HP:0003581
9 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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Minocyclineapproved, investigationalPhase 316210118-90-85281021
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
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
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
Minocycline (USAN/INN)
Minocycline Hydrochloride
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
Solodyn
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
Ximino
minociclinum
minocycline
nchembio.559-comp1
2UbiquinonePhase 2, Phase 390
3
Coenzyme Q10NutraceuticalPhase 2, Phase 3101303-98-05281915
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 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
4DihydroxyphenylalaninePhase 0112
5FluoridesPhase 0327
6RadiopharmaceuticalsPhase 0345

Interventional clinical trials:

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
7Research of Biomarkers in Parkinson DiseaseCompletedNCT00465790Phase 0
8Study for the Early Diagnosis of Parkinson's DiseaseRecruitingNCT02283073
9Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesActive, not recruitingNCT00368199Phase 0
10Parkinson's Disease, Diagnostic Observations (PADDO)Active, not recruitingNCT01249768

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Genetic Tests for Supranuclear Palsy, Progressive Atypical

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Anatomical Context for Supranuclear Palsy, Progressive Atypical

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

33
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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Clinvar genetic disease variations for Supranuclear Palsy, Progressive Atypical:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1838_1840delATA (p.Asn613del)deletionPathogenic, risk factorrs63751392GRCh37Chr 17, 44087740: 44087742

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet