KRPPD
MCID: PRK008
MIFTS: 22

Parkinson Disease Type 9 (KRPPD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease Type 9

MalaCards integrated aliases for Parkinson Disease Type 9:

Name: Parkinson Disease Type 9 54
Kufor-Rakeb Syndrome 54 74
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 54
Autosomal Recessive Parkinson Disease 9 54
Park 9 54
Krppd 54

Classifications:



External Ids:

UMLS 74 C1847640

Summaries for Parkinson Disease Type 9

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 306674Disease definitionKufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.Visit the Orphanet disease page for more resources.

MalaCards based summary : Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to kufor-rakeb syndrome and neurodegeneration with brain iron accumulation 1, and has symptoms including ataxia, tremor and abnormal pyramidal signs.

Related Diseases for Parkinson Disease Type 9

Graphical network of the top 20 diseases related to Parkinson Disease Type 9:



Diseases related to Parkinson Disease Type 9

Symptoms & Phenotypes for Parkinson Disease Type 9

UMLS symptoms related to Parkinson Disease Type 9:


ataxia, tremor, abnormal pyramidal signs, myoclonus, abnormality of extrapyramidal motor function, torticollis, hyposmia, muscle rigidity

Drugs & Therapeutics for Parkinson Disease Type 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970

Search NIH Clinical Center for Parkinson Disease Type 9

Genetic Tests for Parkinson Disease Type 9

Anatomical Context for Parkinson Disease Type 9

Publications for Parkinson Disease Type 9

Articles related to Parkinson Disease Type 9:

(show all 15)
# Title Authors Year
1
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. ( 29966207 )
2018
2
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers. ( 30746398 )
2018
3
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome. ( 30868101 )
2018
4
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. ( 27039055 )
2016
5
Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report. ( 27673054 )
2016
6
First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene. ( 30838237 )
2015
7
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. ( 23630171 )
2013
8
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. ( 22117566 )
2012
9
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). ( 21696388 )
2012
10
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. ( 22296644 )
2012
11
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. ( 21724849 )
2011
12
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. ( 21542062 )
2011
13
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. ( 20683840 )
2010
14
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. ( 11584046 )
2001
15
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. ( 8085432 )
1994

Variations for Parkinson Disease Type 9

Expression for Parkinson Disease Type 9

Search GEO for disease gene expression data for Parkinson Disease Type 9.

Pathways for Parkinson Disease Type 9

GO Terms for Parkinson Disease Type 9

Sources for Parkinson Disease Type 9

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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