MCID: PRG117
MIFTS: 15

Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

MalaCards integrated aliases for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome:

Name: Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 58
Psp-Pure Akinesia with Gait Freezing 58
Psp-Pagf 58

Characteristics:

Orphanet epidemiological data:

58
progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

MalaCards based summary : Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome, is also known as psp-pure akinesia with gait freezing. An important gene associated with Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome is MAPT (Microtubule Associated Protein Tau). Affiliated tissues include eye, and related phenotypes are akinesia and freezing of gait

Related Diseases for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Symptoms & Phenotypes for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Human phenotypes related to Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 akinesia 58 31 obligate (100%) Obligate (100%) HP:0002304
2 freezing of gait 58 31 obligate (100%) Obligate (100%) HP:0031825
3 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
4 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
5 weak voice 58 31 frequent (33%) Frequent (79-30%) HP:0001621
6 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
7 fixed facial expression 58 31 frequent (33%) Frequent (79-30%) HP:0005329
8 abnormal speech prosody 58 31 frequent (33%) Frequent (79-30%) HP:0031434
9 micrographia 58 31 frequent (33%) Frequent (79-30%) HP:0031908
10 palilalia 58 31 frequent (33%) Frequent (79-30%) HP:0031814
11 tachylalia 58 31 frequent (33%) Frequent (79-30%) HP:0031937
12 distal lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009053
13 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
14 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
15 falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002527
16 short stepped shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0007311
17 blepharospasm 58 31 very rare (1%) Very rare (<4-1%) HP:0000643
18 oculomotor apraxia 58 31 very rare (1%) Very rare (<4-1%) HP:0000657
19 hypometric saccades 58 31 very rare (1%) Very rare (<4-1%) HP:0000571
20 tremor 58 Excluded (0%)
21 rigidity 58 Excluded (0%)
22 vertical supranuclear gaze palsy 58 Excluded (0%)
23 bradykinesia 58 Excluded (0%)
24 abnormal saccadic eye movements 58 Excluded (0%)
25 neuromuscular dysphagia 58 Excluded (0%)

Drugs & Therapeutics for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Search Clinical Trials , NIH Clinical Center for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome

Genetic Tests for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Anatomical Context for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

MalaCards organs/tissues related to Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome:

40
Eye

Publications for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Articles related to Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome:

# Title Authors PMID Year
1
Prospective Characterization of Cognitive Function in Typical and 'Brainstem Predominant'Progressive Supranuclear Palsy Phenotypes. 61
29860785 2018
2
Vestibular symptoms as the presenting feature of progressive supranuclear palsy. 61
29398194 2018
3
Prevalence of progressive supranuclear palsy in Yonago: change throughout a decade. 61
28031995 2016

Variations for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Expression for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Search GEO for disease gene expression data for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome.

Pathways for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

GO Terms for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

Sources for Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing...

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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