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PSNP2
MCID: SPR049
MIFTS: 18

Supranuclear Palsy, Progressive, 2 (PSNP2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases 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 72
Psnp2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see psnp1 )


HPO:

32
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)


External Ids:

OMIM 57 609454
MedGen 42 C1836148
UMLS 72 C1836148
Sources

Summaries for Supranuclear Palsy, Progressive, 2

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MalaCards based summary : Supranuclear Palsy, Progressive, 2, also known as psnp2, is related to supranuclear palsy, progressive, 1, 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 cerebellum and brain, and related phenotypes are diplopia and dysarthria

More information from OMIM: 609454
Sources

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

Diseases related to Supranuclear Palsy, Progressive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 11.3

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Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 2

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Human phenotypes related to Supranuclear Palsy, Progressive, 2:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 diplopia 32 HP:0000651
2 dysarthria 32 HP:0001260
3 dysphagia 32 HP:0002015
4 photophobia 32 HP:0000613
5 irritability 32 HP:0000737
6 memory impairment 32 HP:0002354
7 gait imbalance 32 HP:0002141
8 falls 32 HP:0002527
9 rigidity 32 HP:0002063
10 blurred vision 32 HP:0000622
11 postural tremor 32 HP:0002174
12 bradykinesia 32 HP:0002067
13 parkinsonism 32 HP:0001300
14 neurofibrillary tangles 32 HP:0002185
15 neuronal loss in central nervous system 32 HP:0002529
16 gliosis 32 HP:0002171
17 apathy 32 HP:0000741
18 eyelid apraxia 32 HP:0000658
19 supranuclear gaze palsy 32 HP:0000605
20 akinesia 32 HP:0002304
21 neuronal loss in basal ganglia 32 HP:0200147
22 axial dystonia 32 HP:0002530
23 frontal release signs 32 HP:0000743
24 frontolimbic dementia 32 HP:0002439
25 granulovacuolar degeneration 32 HP:0002528
26 retrocollis 32 HP:0002544

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
diplopia
photophobia
blurred vision
eyelid apraxia
supranuclear gaze palsy

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
dysarthria
gait imbalance
falls
rigidity
postural tremor
more
Neurologic Behavioral Psychiatric Manifestations:
irritability
apathy
frontal release signs
forgetfulness

Clinical features from OMIM:

609454

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:

41
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. 8
15852377 2005
2
Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography. 8
11708994 2001
3
Clinical genetics of familial progressive supranuclear palsy. 8
10388790 1999
4
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 8
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. 8
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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