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 60
Ppfg 60

Characteristics:

Orphanet epidemiological data:

60
primary progressive freezing gait
Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Primary Progressive Freezing Gait

MalaCards based summary : Primary Progressive Freezing Gait, also known as ppfg, is related to carbon monoxide-induced parkinsonism. 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 difficulty walking and frequent falls

Related Diseases for Primary Progressive Freezing Gait

Diseases related to Primary Progressive Freezing Gait via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 carbon monoxide-induced parkinsonism 10.0

Symptoms & Phenotypes for Primary Progressive Freezing Gait

Human phenotypes related to Primary Progressive Freezing Gait:

60 33 (showing 21, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
2 frequent falls 60 33 hallmark (90%) Very frequent (99-80%) HP:0002359
3 postural instability 60 33 hallmark (90%) Very frequent (99-80%) HP:0002172
4 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
5 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
6 clonus 60 33 frequent (33%) Frequent (79-30%) HP:0002169
7 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
8 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
9 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
10 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
11 sensory neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000763
12 gait imbalance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002141
13 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
14 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
15 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
16 shuffling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002362
17 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
18 lewy bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0100315
19 restless legs 60 33 occasional (7.5%) Occasional (29-5%) HP:0012452
20 impaired smooth pursuit 60 33 occasional (7.5%) Occasional (29-5%) HP:0007772
21 hyperreflexia 60 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:

42
Brain

Publications for Primary Progressive Freezing Gait

Articles related to Primary Progressive Freezing Gait:

(showing 13, show less)
# Title Authors Year
1
Primary progressive freezing gait with impressive response to laser light visual cueing: a video case report. ( 30006722 )
2018
2
Primary progressive freezing gait: Report of five cases. ( 28488643 )
2017
3
Degeneration of corticofugal fibers in a patient with primary progressive freezing gait: A case report. ( 28489770 )
2017
4
Nigro-striatal involvement in primary progressive freezing gait: insights into a heterogeneous pathogenesis. ( 22459564 )
2012
5
Pedunculopontine nucleus deep brain stimulation in a patient with primary progressive freezing gait disorder. ( 20051710 )
2010
6
Primary progressive freezing gait in a patient with CO-induced parkinsonism. ( 20629158 )
2010
7
Improvement with duloxetine in primary progressive freezing gait. ( 21135389 )
2010
8
Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. ( 18980855 )
2009
9
Rasagiline improves freezing in a patient with primary progressive freezing gait. ( 18067186 )
2008
10
Primary progressive freezing gait: a syndrome with many causes. ( 16476942 )
2006
11
The natural history of the syndrome of primary progressive freezing gait. ( 12433266 )
2002
12
Primary progressive freezing gait. Case report. ( 9629371 )
1997
13
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 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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