PSNP2
MCID: SPR049
MIFTS: 18

Supranuclear Palsy, Progressive, 2 (PSNP2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Supranuclear Palsy, Progressive, 2

MalaCards integrated aliases for Supranuclear Palsy, Progressive, 2:

Name: Supranuclear Palsy, Progressive, 2 58 13 74
Psnp2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see psnp1 )


HPO:

33
supranuclear palsy, progressive, 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Supranuclear Palsy, Progressive, 2

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 eye, and related phenotypes are diplopia and dysarthria

Description from OMIM: 609454

Related Diseases for Supranuclear Palsy, Progressive, 2

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 11.1

Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 2

Human phenotypes related to Supranuclear Palsy, Progressive, 2:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 diplopia 33 HP:0000651
2 dysarthria 33 HP:0001260
3 dysphagia 33 HP:0002015
4 photophobia 33 HP:0000613
5 irritability 33 HP:0000737
6 gait imbalance 33 HP:0002141
7 falls 33 HP:0002527
8 memory impairment 33 HP:0002354
9 rigidity 33 HP:0002063
10 blurred vision 33 HP:0000622
11 postural tremor 33 HP:0002174
12 bradykinesia 33 HP:0002067
13 parkinsonism 33 HP:0001300
14 neurofibrillary tangles 33 HP:0002185
15 neuronal loss in central nervous system 33 HP:0002529
16 gliosis 33 HP:0002171
17 apathy 33 HP:0000741
18 eyelid apraxia 33 HP:0000658
19 supranuclear gaze palsy 33 HP:0000605
20 akinesia 33 HP:0002304
21 neuronal loss in basal ganglia 33 HP:0200147
22 axial dystonia 33 HP:0002530
23 frontal release signs 33 HP:0000743
24 retrocollis 33 HP:0002544
25 frontolimbic dementia 33 HP:0002439
26 granulovacuolar degeneration 33 HP:0002528

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Supranuclear Palsy, Progressive, 2

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

Genetic Tests for Supranuclear Palsy, Progressive, 2

Anatomical Context for Supranuclear Palsy, Progressive, 2

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

42
Cerebellum, Eye

Publications for Supranuclear Palsy, Progressive, 2

Variations for Supranuclear Palsy, Progressive, 2

Expression for Supranuclear Palsy, Progressive, 2

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

Pathways for Supranuclear Palsy, Progressive, 2

GO Terms for Supranuclear Palsy, Progressive, 2

Sources for Supranuclear Palsy, Progressive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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