MCID: PRG115
MIFTS: 15

Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

MalaCards integrated aliases for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome:

Name: Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 58
Progressive Supranuclear Palsy-Apraxia of Speech Syndrome 58
Psp-Pnfa 58
Psp-Aos 58

Characteristics:

Orphanet epidemiological data:

58
progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

MalaCards based summary : Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome, is also known as progressive supranuclear palsy-apraxia of speech syndrome. An important gene associated with Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome is MAPT (Microtubule Associated Protein Tau). Affiliated tissues include eye, and related phenotypes are speech apraxia and deficit in phonologic short-term memory

Related Diseases for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Symptoms & Phenotypes for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Human phenotypes related to Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 speech apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011098
2 deficit in phonologic short-term memory 58 31 hallmark (90%) Very frequent (99-80%) HP:0002549
3 grammar-specific speech disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0006977
4 spoken word recognition deficit 58 31 hallmark (90%) Very frequent (99-80%) HP:0030391
5 anomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030784
6 stuttering 58 31 hallmark (90%) Very frequent (99-80%) HP:0025268
7 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
8 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
9 abnormal speech prosody 58 31 frequent (33%) Frequent (79-30%) HP:0031434
10 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
11 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
12 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
13 falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002527
14 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
15 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
16 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
17 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
18 vertical supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000511
19 progressive extrapyramidal muscular rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007158
20 limb apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030217
21 neurological speech impairment 58 Very frequent (99-80%)

Drugs & Therapeutics for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Search Clinical Trials , NIH Clinical Center for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome

Genetic Tests for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Anatomical Context for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

MalaCards organs/tissues related to Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome:

40
Eye

Publications for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Articles related to Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome:

# Title Authors PMID Year
1
Progressive supranuclear palsy syndrome presenting as progressive nonfluent aphasia: a neuropsychological and neuroimaging analysis. 61
20077483 2010

Variations for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Expression for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Search GEO for disease gene expression data for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome.

Pathways for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

GO Terms for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

Sources for Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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