MCID: SPR098
MIFTS: 48

Supranuclear Palsy, Progressive malady

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

Summaries for Supranuclear Palsy, Progressive

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OMIM:45 Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to... (601104) more...

MalaCards based summary: Supranuclear Palsy, Progressive, also known as progressive supranuclear palsy, is related to tauopathy and pick disease, and has symptoms including frontal release signs, tremor and limb dystonia. An important gene associated with Supranuclear Palsy, Progressive is MAPT (microtubule-associated protein tau), and among its related pathways are Cytoskeletal Signaling and Cytoplasmic microtubules. The compounds donepezil and quisqualate have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:9 A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. it involves gradual deterioration and death of specific volumes of the brain.

Genetics Home Reference:21 Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.

NIH Rare Diseases:41 Progressive supranuclear palsy (psp) is a movement disorder caused by damage to certain nerve cells in the brain. it affects brain cells that control the movement of the eyes. this leads to serious and permanent problems with balance and the way affected people walk. it usually occurs in middle-aged or elderly people. symptoms are very different in each person, but may include personality changes; and speech, vision or swallowing problems. doctors sometimes confuse psp with parkinson's disease or alzheimer's disease. in most cases, the genetic cause of psp is unknown. rarely, the disease is known to result from mutations in the mapt gene. psp has no effective treatments, but some symptoms may be managed with medication. last updated: 8/28/2014

MedlinePlus:32 Progressive supranuclear palsy (psp) is a rare brain disease. it affects brain cells that control the movement of your eyes. this leads to serious and permanent problems with balance and the way you walk. it usually occurs in middle-aged or elderly people. symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. doctors sometimes confuse psp with parkinson's disease or alzheimer's disease. psp has no cure and no effective treatments. walking aids, special glasses and certain medicines might help somewhat. although the disease gets worse over time, it isn't fatal on its own. however, psp is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling. nih: national institute of neurological disorders and stroke

NINDS:42 Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individuals

Aliases & Classifications for Supranuclear Palsy, Progressive

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 55SNOMED-CT, 27ICD9CM, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Supranuclear Palsy, Progressive, Aliases & Descriptions:

Name: Supranuclear Palsy, Progressive 45 10 41 21
Progressive Supranuclear Palsy 9 41 21 42 11 47 32 60
Steele-Richardson-Olszewski Syndrome 9 41 21 42
Progressive Supranuclear Ophthalmoplegia 9 21 22
 
Psp 41 21 47
Familial Progressive Supranuclear Palsy 41 60
Supranuclear Palsy Progressive 43
Richardson's Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

47
progressive supranuclear palsy:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Adult; Age of death: elderly


External Ids:

OMIM45 601104
Disease Ontology9 DOID:678
ICD9CM27 333.0
MeSH33 D013494
NCIt38 C85028
Orphanet47 683
MESH via Orphanet34 D013494
ICD10 via Orphanet26 G23.1
UMLS via Orphanet61 C0038868
ICD1025 G23.1

Related Diseases for Supranuclear Palsy, Progressive

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Diseases in the Supranuclear Palsy, Progressive family:

Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3
Progressive Supranuclear Palsy, Mapt-Related

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

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1tauopathy31.0MAPT, PARK7
2pick disease31.0MAPT, CHAT
3dementia30.9HCRT, PARK7, CHAT, MAPT
4normal pressure hydrocephalus30.8MAPT, HCRT
5multiple system atrophy30.5CHAT, MAPT
6alzheimer disease29.7HCRT, NEFL, CHAT, PARK7, MAPT
7corticobasal degeneration11.2
8neuronitis10.8
9cerebritis10.8
10apraxia10.8
11aphasia10.7
12progressive supranuclear palsy - parkinsonism10.7
13lateral sclerosis10.6
14supranuclear palsy, progressive atypical10.6
15dystonia10.6
16ophthalmoplegia10.6
17striatonigral degeneration10.6
18progressive supranuclear palsy - corticobasal syndrome10.6
19supranuclear palsy, progressive, 210.5
20supranuclear palsy, progressive, 310.5
21creutzfeldt-jakob disease10.5
22internuclear ophthalmoplegia10.5
23classical progressive supranuclear palsy10.5
24cerebellar ataxia10.5
25rem sleep behavior disorder10.5
26cervicitis10.5
27progressive supranuclear palsy, mapt-related10.5
28ataxia10.5
29cerebral atrophy10.5
30tremor10.5
31progressive supranuclear palsy - progressive non fluent aphasia10.5
32progressive supranuclear palsy - pure akinesia with gait freezing10.5
33popliteal pterygium syndrome 110.4
34dementia, frontotemporal10.4
35hydrocephalus10.4
36motor neuron disease10.4
37laryngitis10.4
38synucleinopathy10.4
39limb dystonia10.4
40dysphagia10.4
41myoclonus10.4
42argyrophilic grain disease10.4
43huntington disease10.3CHAT
44perry syndrome10.2
45cerebral amyloid angiopathy10.2
46essential tremor10.2
47b-cell lymphomas10.2
48niemann-pick disease10.2
49wrinkles10.2
50oromandibular dystonia10.2

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



Diseases related to supranuclear palsy, progressive

Symptoms for Supranuclear Palsy, Progressive

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Symptoms by clinical synopsis from OMIM:

601104

Clinical features from OMIM:

601104

HPO human phenotypes related to Supranuclear Palsy, Progressive:

(show all 29)
id Description Frequency HPO Source Accession
1 frontal release signs 45% HP:0000743
2 tremor 30% HP:0001337
3 limb dystonia 18% HP:0002451
4 autosomal dominant inheritance HP:0000006
5 supranuclear gaze palsy HP:0000605
6 photophobia HP:0000613
7 blurred vision HP:0000622
8 diplopia HP:0000651
9 eyelid apraxia HP:0000658
10 irritability HP:0000737
11 apathy HP:0000741
12 dysarthria HP:0001260
13 parkinsonism HP:0001300
14 dysphagia HP:0002015
15 rigidity HP:0002063
16 bradykinesia HP:0002067
17 gait imbalance HP:0002141
18 gliosis HP:0002171
19 neurofibrillary tangles HP:0002185
20 mutism HP:0002300
21 akinesia HP:0002304
22 memory impairment HP:0002354
23 frontolimbic dementia HP:0002439
24 falls HP:0002527
25 granulovacuolar degeneration HP:0002528
26 neuronal loss in central nervous system HP:0002529
27 axial dystonia HP:0002530
28 retrocollis HP:0002544
29 adult onset HP:0003581

Drugs & Therapeutics for Supranuclear Palsy, Progressive

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Drug clinical trials:

Search ClinicalTrials for Supranuclear Palsy, Progressive

Search NIH Clinical Center for Supranuclear Palsy, Progressive

Genetic Tests for Supranuclear Palsy, Progressive

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Genetic tests related to Supranuclear Palsy, Progressive:

id Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia22

Anatomical Context for Supranuclear Palsy, Progressive

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MalaCards organs/tissues related to Supranuclear Palsy, Progressive:

31
Brain, Eye

Animal Models for Supranuclear Palsy, Progressive or affiliated genes

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MGI Mouse Phenotypes related to Supranuclear Palsy, Progressive:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0HCRT, CHAT, MAPT
2MP:00053868.1HCRT, PARK7, CHAT, MAPT
3MP:00053787.9HCRT, PARK7, CHAT, MAPT
4MP:00036317.5HCRT, PARK7, NEFL, CHAT, MAPT

Publications for Supranuclear Palsy, Progressive

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Variations for Supranuclear Palsy, Progressive

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UniProtKB/Swiss-Prot genetic disease variations for Supranuclear Palsy, Progressive:

62
id Symbol AA change Variation ID SNP ID
1MAPTp.Arg5LeuVAR_019661rs63750959
2MAPTp.Gly620ValVAR_037439

Clinvar genetic disease variations for Supranuclear Palsy, Progressive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.14G> T (p.Arg5Leu)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
3MAPTNM_016835.4(MAPT): c.2006C> T (p.Ser669Leu)single nucleotide variantPathogenicrs63750425GRCh37Chr 17, 44096041: 44096041
4MAPTNM_016835.4(MAPT): c.1859G> T (p.Gly620Val)single nucleotide variantPathogenicrs63751391GRCh37Chr 17, 44087761: 44087761

Expression for genes affiliated with Supranuclear Palsy, Progressive

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

Pathways for genes affiliated with Supranuclear Palsy, Progressive

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Pathways related to Supranuclear Palsy, Progressive according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MAPT, NEFL
28.6MAPT, NEFL, PARK7

Compounds for genes affiliated with Supranuclear Palsy, Progressive

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Compounds related to Supranuclear Palsy, Progressive according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1donepezil43 49 24 1212.9MAPT, CHAT
2quisqualate43 1210.9MAPT, CHAT
3colchicine43 59 2 28 1213.8MAPT, CHAT
4silver439.8CHAT, MAPT
54-hydroxynonenal43 2410.8CHAT, MAPT
6quinolinic acid43 2410.8CHAT, HCRT
7kainate43 2810.8CHAT, MAPT
8haloperidol43 49 28 2 1213.7CHAT, HCRT
9catecholamine439.7CHAT, HCRT
10carbachol43 28 1211.7HCRT, MAPT
11cocaine43 1210.7HCRT, CHAT
125-hydroxytryptamine439.5CHAT, HCRT
13choline43 24 1211.5CHAT, MAPT
146-hydroxydopamine439.5CHAT, PARK7
15gaba439.4CHAT, HCRT
16nicotine43 28 49 1212.3MAPT, CHAT, HCRT
17acetylcholine43 49 28 24 1213.3CHAT, MAPT, HCRT
18alanine439.2CHAT, MAPT, HCRT
19formaldehyde43 2410.2CHAT, MAPT
20estrogen439.2CHAT, HCRT, MAPT
21retinoic acid43 2410.0NEFL, CHAT, MAPT
22cycloheximide439.0CHAT, MAPT, PARK7
23oligonucleotide438.9CHAT, HCRT, PARK7
24glucose438.9HCRT, CHAT, MAPT
25atp43 289.9HCRT, NEFL, CHAT
26nmda43 289.7MAPT, CHAT, NEFL, HCRT
27glutamate438.7NEFL, HCRT, CHAT, MAPT
28dopamine43 28 24 1211.5HCRT, PARK7, CHAT, MAPT
29testosterone43 59 24 1211.5HCRT, PARK7, MAPT, CHAT

GO Terms for genes affiliated with Supranuclear Palsy, Progressive

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Cellular components related to Supranuclear Palsy, Progressive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonGO:00304248.6MAPT, CHAT, NEFL
2cytosolGO:00058298.1MAPT, CHAT, NEFL, PARK7

Biological processes related to Supranuclear Palsy, Progressive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adult walking behaviorGO:00076289.5MAPT, CHAT
2synaptic transmissionGO:00072688.5CHAT, NEFL, HCRT

Molecular functions related to Supranuclear Palsy, Progressive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.4MAPT, NEFL

Products for genes affiliated with Supranuclear Palsy, Progressive

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Sources for Supranuclear Palsy, Progressive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet