MCID: PRK008
MIFTS: 23

Parkinson Disease Type 9

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

Aliases & Classifications for Parkinson Disease Type 9

MalaCards integrated aliases for Parkinson Disease Type 9:

Name: Parkinson Disease Type 9 49
Kufor-Rakeb Syndrome 49 69
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 49
Autosomal Recessive Parkinson Disease 9 49
Park 9 49
Krppd 49

Classifications:



Summaries for Parkinson Disease Type 9

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Neurodegeneration with brain iron accumulation.

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 hyposmia, abnormality of extrapyramidal motor function and abnormal pyramidal signs. An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase 13A2). Affiliated tissues include brain.

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:


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

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

MalaCards organs/tissues related to Parkinson Disease Type 9:

38
Brain

Publications for Parkinson Disease Type 9

Articles related to Parkinson Disease Type 9:

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

Variations for Parkinson Disease Type 9

ClinVar genetic disease variations for Parkinson Disease Type 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs) duplication Pathogenic rs762033589 GRCh37 Chromosome 1, 17323608: 17323609
2 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh37 Chromosome 1, 17316242: 17316243
3 ATP13A2 NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg) single nucleotide variant Pathogenic rs587777053 GRCh37 Chromosome 1, 17316234: 17316234
4 ATP13A2 NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg) single nucleotide variant Pathogenic rs144701072 GRCh37 Chromosome 1, 17314950: 17314950
5 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh37 Chromosome 1, 17330894: 17330894
6 ATP13A2 ATP13A2, 1-BP DEL, 3057C deletion Pathogenic
7 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh37 Chromosome 1, 17322876: 17322876
8 ATP13A2 ATP13A2, 22-BP DUP duplication Pathogenic
9 ATP13A2 NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg) single nucleotide variant Pathogenic rs121918227 GRCh37 Chromosome 1, 17322503: 17322503
10 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Pathogenic rs749798211 GRCh37 Chromosome 1, 17331313: 17331325
11 ATP13A2 NM_022089.3(ATP13A2): c.3057delC (p.Tyr1020Thrfs) deletion Pathogenic rs765632065 GRCh37 Chromosome 1, 17313567: 17313567
12 ATP13A2 NM_022089.3(ATP13A2): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs773246271 GRCh37 Chromosome 1, 17318840: 17318840

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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