SUPRANUCLEAR PALSY, PROGRESSIVE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: PSNP2
Number of Symptoms 28
OrphanetNr:
OMIM Id: 609454
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000658) Eyelid apraxia 5 / 7739
2
(HPO:0002544) Retrocollis 5 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
5
(HPO:0000622) Blurred vision 14 / 7739
6
(HPO:0000651) Diplopia 37 / 7739
7
(HPO:0000737) Irritability 93 / 7739
8
(HPO:0002354) Memory impairment 63 / 7739
9
(HPO:0002527) Falls 10 / 7739
10
(HPO:0002530) Axial dystonia 6 / 7739
11
(HPO:0002015) Dysphagia 301 / 7739
12
(HPO:0002439) Frontolimbic dementia 3 / 7739
13
(HPO:0002141) Gait imbalance 55 / 7739
14
(HPO:0002174) Postural tremor 22 / 7739
15
(HPO:0001300) Parkinsonism 75 / 7739
16
(HPO:0000743) Frontal release signs 6 / 7739
17
(HPO:0002304) Akinesia 18 / 7739
18
(HPO:0002067) Bradykinesia 62 / 7739
19
(HPO:0001260) Dysarthria 329 / 7739
20
(HPO:0002063) Rigidity 92 / 7739
21
(HPO:0000741) Apathy 42 / 7739
22
(OMIM) Poor mobility 2 / 7739
23
(HPO:0002171) Gliosis 48 / 7739
24
(HPO:0002185) Neurofibrillary tangles 14 / 7739
25
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
(OMIM) Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum 2 / 7739
27
(HPO:0002528) Granulovacuolar degeneration 3 / 7739
28
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Yebenes et al. (1995) studied a 5-generation Spanish family in which progressive supranuclear palsy was transmitted as an autosomal dominant trait. The proband had the classic presentation of this disorder beginning with axial rigidity, slowness of movement, ...