MCID: SPR049
MIFTS: 19

Supranuclear Palsy, Progressive, 2

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

Aliases & Classifications for Supranuclear Palsy, Progressive, 2

MalaCards integrated aliases for Supranuclear Palsy, Progressive, 2:

Name: Supranuclear Palsy, Progressive, 2 57 13 73
Psnp2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see psnp1 )


HPO:

32
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 muscle rigidity, photophobia and bradykinesia. An important gene associated with Supranuclear Palsy, Progressive, 2 is PSNP2 (Supranuclear Palsy, Progressive, 2). Affiliated tissues include cerebellum, 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 10.9

Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 2

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

Human phenotypes related to Supranuclear Palsy, Progressive, 2:

32 (show all 25)
# 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 gait imbalance 32 HP:0002141
7 falls 32 HP:0002527
8 memory impairment 32 HP:0002354
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 apathy 32 HP:0000741
16 eyelid apraxia 32 HP:0000658
17 supranuclear gaze palsy 32 HP:0000605
18 neuronal loss in central nervous system 32 HP:0002529
19 gliosis 32 HP:0002171
20 akinesia 32 HP:0002304
21 axial dystonia 32 HP:0002530
22 frontal release signs 32 HP:0000743
23 retrocollis 32 HP:0002544
24 frontolimbic dementia 32 HP:0002439
25 granulovacuolar degeneration 32 HP:0002528

UMLS symptoms related to Supranuclear Palsy, Progressive, 2:


muscle rigidity, photophobia, bradykinesia, static tremor, poor mobility, forgetful

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:

41
Cerebellum

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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