PPFG
MCID: PRM157
MIFTS: 18

Primary Progressive Freezing Gait (PPFG)

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


External Ids:

Orphanet 59 ORPHA75567

Summaries for Primary Progressive Freezing Gait

MalaCards based summary : Primary Progressive Freezing Gait, also known as ppfg, is related to supranuclear palsy, progressive, 1 and corticobasal degeneration. An important gene associated with Primary Progressive Freezing Gait is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include brain and kidney, 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 8, show less)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 10.2
2 corticobasal degeneration 10.2
3 tremor 10.2
4 primary lateral sclerosis, adult, 1 10.0
5 hydrocephalus 10.0
6 lateral sclerosis 10.0
7 congenital hydrocephalus 10.0
8 dysphagia 10.0

Graphical network of the top 20 diseases related to Primary Progressive Freezing Gait:



Diseases related to Primary Progressive Freezing Gait

Symptoms & Phenotypes for Primary Progressive Freezing Gait

Human phenotypes related to Primary Progressive Freezing Gait:

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

Publications for Primary Progressive Freezing Gait

Articles related to Primary Progressive Freezing Gait:

(showing 26, show less)
# Title Authors PMID Year
1
Primary progressive freezing gait with impressive response to laser light visual cueing: a video case report. 38
30006722 2018
2
A sensitive HPLC-MS/MS method for the simultaneous detection of microbial transglutaminase, and bovine and porcine fibrinogen/thrombin in restructured meat. 38
28764076 2017
3
Primary progressive freezing gait: Report of five cases. 38
28488643 2017
4
Degeneration of corticofugal fibers in a patient with primary progressive freezing gait: A case report. 38
28489770 2017
5
Akinesia and freezing caused by Na+ leak-current channel (NALCN) deficiency corrected by pharmacological inhibition of K+ channels and gap junctions. 38
27636205 2017
6
Agarose gel purification of PCR products for denaturing gradient gel electrophoresis results in GC-clamp deletion. 38
25300603 2015
7
Posterior pharyngeal fat grafting for velopharyngeal insufficiency. 38
22329568 2013
8
Nigro-striatal involvement in primary progressive freezing gait: insights into a heterogeneous pathogenesis. 38
22459564 2012
9
Pedunculopontine nucleus deep brain stimulation produces sustained improvement in primary progressive freezing of gait. 38
20971757 2011
10
Improvement with duloxetine in primary progressive freezing gait. 38
21135389 2010
11
Primary progressive freezing gait in a patient with CO-induced parkinsonism. 38
20629158 2010
12
Pedunculopontine nucleus deep brain stimulation in a patient with primary progressive freezing gait disorder. 38
20051710 2010
13
Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. 38
18980855 2009
14
Rasagiline improves freezing in a patient with primary progressive freezing gait. 38
18067186 2008
15
The clinical spectrum of freezing of gait in atypical parkinsonism. 38
18668624 2008
16
Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy. 38
17712855 2007
17
Long lasting pure freezing of gait preceding progressive supranuclear palsy: a clinicopathological study. 38
17724746 2007
18
Primary progressive freezing gait: a syndrome with many causes. 38
16476942 2006
19
[Unusual causes of gait disorders]. 38
15095729 2003
20
The natural history of the syndrome of primary progressive freezing gait. 38
12433266 2002
21
Gait disorders. 38
12803684 2002
22
Primary progressive freezing gait. Case report. 38
9629371 1997
23
Influence of renal function on the steady-state pharmacokinetics of the antiarrhythmic propafenone and its phase I and phase II metabolites. 38
7589055 1995
24
Rapid determination of CYP2D6 phenotype during propafenone therapy by analysing urinary excretion of propafenone glucuronides. 38
8039531 1994
25
Primary progressive freezing gait. 38
8341293 1993
26
Metabolism of hexafluoropropene. Evidence for bioactivation by glutathione conjugate formation in the kidney. 38
1981536 1990

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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