MCID: PRM157
MIFTS: 18

Primary Progressive Freezing Gait

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Progressive Freezing Gait

MalaCards integrated aliases for Primary Progressive Freezing Gait:

Name: Primary Progressive Freezing Gait 59
Ppfg 59

Characteristics:

Orphanet epidemiological data:

59
primary progressive freezing gait
Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Primary Progressive Freezing Gait

MalaCards based summary : Primary Progressive Freezing Gait, is also known as ppfg. An important gene associated with Primary Progressive Freezing Gait is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include brain, and related phenotypes are postural instability and difficulty walking

Related Diseases for Primary Progressive Freezing Gait

Symptoms & Phenotypes for Primary Progressive Freezing Gait

Human phenotypes related to Primary Progressive Freezing Gait:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
2 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
3 frequent falls 59 32 hallmark (90%) Very frequent (99-80%) HP:0002359
4 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
5 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
6 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
7 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
8 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
9 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
10 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
11 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
12 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
13 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
14 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
15 gait imbalance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002141
16 shuffling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002362
17 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
18 impaired smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0007772
19 restless legs 59 32 occasional (7.5%) Occasional (29-5%) HP:0012452
20 lewy bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0100315
21 hyperreflexia 59 Frequent (79-30%)

Drugs & Therapeutics for Primary Progressive Freezing Gait

Search Clinical Trials , NIH Clinical Center for Primary Progressive Freezing Gait

Genetic Tests for Primary Progressive Freezing Gait

Anatomical Context for Primary Progressive Freezing Gait

MalaCards organs/tissues related to Primary Progressive Freezing Gait:

41
Brain

Publications for Primary Progressive Freezing Gait

Articles related to Primary Progressive Freezing Gait:

(show all 12)
# Title Authors Year
1
Primary progressive freezing gait: Report of five cases. ( 28488643 )
2017
2
Degeneration of corticofugal fibers in a patient with primary progressive freezing gait: A case report. ( 28489770 )
2017
3
Nigro-striatal involvement in primary progressive freezing gait: insights into a heterogeneous pathogenesis. ( 22459564 )
2012
4
Pedunculopontine nucleus deep brain stimulation in a patient with primary progressive freezing gait disorder. ( 20051710 )
2010
5
Primary progressive freezing gait in a patient with CO-induced parkinsonism. ( 20629158 )
2010
6
Improvement with duloxetine in primary progressive freezing gait. ( 21135389 )
2010
7
Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. ( 18980855 )
2009
8
Rasagiline improves freezing in a patient with primary progressive freezing gait. ( 18067186 )
2008
9
Primary progressive freezing gait: a syndrome with many causes. ( 16476942 )
2006
10
The natural history of the syndrome of primary progressive freezing gait. ( 12433266 )
2002
11
Primary progressive freezing gait. Case report. ( 9629371 )
1997
12
Primary progressive freezing gait. ( 8341293 )
1993

Variations for Primary Progressive Freezing Gait

Expression for Primary Progressive Freezing Gait

Search GEO for disease gene expression data for Primary Progressive Freezing Gait.

Pathways for Primary Progressive Freezing Gait

GO Terms for Primary Progressive Freezing Gait

Sources for Primary Progressive Freezing Gait

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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