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PSNP2
MCID: SPR049
MIFTS: 20

Supranuclear Palsy, Progressive, 2 (PSNP2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Supranuclear Palsy, Progressive, 2

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MalaCards integrated aliases for Supranuclear Palsy, Progressive, 2:

Name: Supranuclear Palsy, Progressive, 2 57 13 70
Psnp2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see psnp1 )


HPO:

31
supranuclear palsy, progressive, 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


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Summaries for Supranuclear Palsy, Progressive, 2

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MalaCards based summary : Supranuclear Palsy, Progressive, 2, is also known as psnp2, and has symptoms including photophobia, bradykinesia and forgetful. An important gene associated with Supranuclear Palsy, Progressive, 2 is PSNP2 (Supranuclear Palsy, Progressive, 2). Affiliated tissues include eye, cerebellum and brain, and related phenotypes are diplopia and dysarthria

More information from OMIM: 609454
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Related Diseases for Supranuclear Palsy, Progressive, 2

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Diseases in the Supranuclear Palsy, Progressive, 1 family:

Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3

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Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 2

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Human phenotypes related to Supranuclear Palsy, Progressive, 2:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 diplopia 31 HP:0000651
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 photophobia 31 HP:0000613
5 irritability 31 HP:0000737
6 gait imbalance 31 HP:0002141
7 memory impairment 31 HP:0002354
8 rigidity 31 HP:0002063
9 apathy 31 HP:0000741
10 axial dystonia 31 HP:0002530
11 akinesia 31 HP:0002304
12 blurred vision 31 HP:0000622
13 parkinsonism 31 HP:0001300
14 neuronal loss in central nervous system 31 HP:0002529
15 bradykinesia 31 HP:0002067
16 falls 31 HP:0002527
17 supranuclear gaze palsy 31 HP:0000605
18 gliosis 31 HP:0002171
19 postural tremor 31 HP:0002174
20 neurofibrillary tangles 31 HP:0002185
21 frontal release signs 31 HP:0000743
22 eyelid apraxia 31 HP:0000658
23 neuronal loss in basal ganglia 31 HP:0200147
24 retrocollis 31 HP:0002544
25 frontolimbic dementia 31 HP:0002439
26 granulovacuolar degeneration 31 HP:0002528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
diplopia
photophobia
blurred vision
supranuclear gaze palsy
eyelid apraxia

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
dysarthria
gait imbalance
rigidity
axial dystonia
akinesia
more
Neurologic Behavioral Psychiatric Manifestations:
irritability
apathy
frontal release signs
forgetfulness

Clinical features from OMIM®:

609454 (Updated 20-May-2021)

UMLS symptoms related to Supranuclear Palsy, Progressive, 2:


photophobia; bradykinesia; forgetful; muscle rigidity; poor mobility; static tremor
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Drugs & Therapeutics for Supranuclear Palsy, Progressive, 2

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Search Clinical Trials , NIH Clinical Center for Supranuclear Palsy, Progressive, 2

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Genetic Tests for Supranuclear Palsy, Progressive, 2

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Anatomical Context for Supranuclear Palsy, Progressive, 2

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MalaCards organs/tissues related to Supranuclear Palsy, Progressive, 2:

40
Eye, Cerebellum, Brain
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Publications for Supranuclear Palsy, Progressive, 2

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Articles related to Supranuclear Palsy, Progressive, 2:

# Title Authors PMID Year
1
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1. 57
15852377 2005
2
Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography. 57
11708994 2001
3
Clinical genetics of familial progressive supranuclear palsy. 57
10388790 1999
4
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 57
7496773 1995
5
PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA. 57
14107684 1964
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Variations for Supranuclear Palsy, Progressive, 2

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Expression for Supranuclear Palsy, Progressive, 2

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Search GEO for disease gene expression data for Supranuclear Palsy, Progressive, 2.
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Pathways for Supranuclear Palsy, Progressive, 2

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GO Terms for Supranuclear Palsy, Progressive, 2

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Sources for Supranuclear Palsy, Progressive, 2

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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