KRPPD
MCID: PRK008
MIFTS: 20

Parkinson Disease Type 9 (KRPPD) malady

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

Aliases & Classifications for Parkinson Disease Type 9

Aliases & Descriptions for Parkinson Disease Type 9:

Name: Parkinson Disease Type 9 50
Kufor-Rakeb Syndrome 50 69
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 50
Autosomal Recessive Parkinson Disease 9 50
Park 9 50
Krppd 50

Classifications:



Summaries for Parkinson Disease Type 9

MalaCards based summary : Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to kufor-rakeb syndrome, and has symptoms including anosmia, ataxia and muscle rigidity. An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase 13A2). The drugs Cabergoline and Dopamine have been mentioned in the context of this disorder.

Related Diseases for Parkinson Disease Type 9

Symptoms & Phenotypes for Parkinson Disease Type 9

UMLS symptoms related to Parkinson Disease Type 9:


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

Drugs & Therapeutics for Parkinson Disease Type 9

Drugs for Parkinson Disease Type 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cabergoline Approved Phase 4 81409-90-7 54746
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
4
Amitriptyline Approved Phase 4 50-48-6 2160
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Donepezil Approved Phase 4 120014-06-4 3152
7
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
8
Memantine Approved, Investigational Phase 4 19982-08-2 4054
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
12
Propranolol Approved, Investigational Phase 4 525-66-6 4946
13
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
14
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
15
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
16
Topiramate Approved Phase 4 97240-79-4 5284627
17
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
18
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
19
Rasagiline Approved Phase 4 136236-51-6 3052776
20
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
21 Antiparkinson Agents Phase 4
22 Dopamine Agents Phase 4
23 Dopamine agonists Phase 4
24 Neurotransmitter Agents Phase 4
25 Protective Agents Phase 4
26 Antioxidants Phase 4
27 Amitriptyline, perphenazine drug combination Phase 4
28 Duloxetine Hydrochloride Phase 4
29 Etiracetam Phase 4
30 Methylprednisolone acetate Phase 4
31 Methylprednisolone Hemisuccinate Phase 4
32 N 0437 Phase 4
33 Prednisolone acetate Phase 4
34 Prednisolone hemisuccinate Phase 4
35 Prednisolone phosphate Phase 4
36 Neuroprotective Agents Phase 4
37 Omega 3 Fatty Acid Nutraceutical Phase 4
38
Canagliflozin Approved Phase 3 842133-18-0
39
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
40
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
41
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
43
Epirubicin Approved Phase 3 56420-45-2 41867
44
Ondansetron Approved Phase 3 99614-02-5 4595
45
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
46
Ranitidine Approved Phase 3 66357-59-3, 66357-35-5 3001055
47 Hypoglycemic Agents Phase 3
48 Albumin-Bound Paclitaxel Phase 3
49 Anti-Bacterial Agents Phase 3
50 Antibiotics, Antitubercular Phase 3

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
2 Quality Improvement and Practice Based Research in Neurology Using the EMR Enrolling by invitation NCT02670161 Phase 4
3 Multicenter Placebo Controlled Study to Assess the Effect of Rasagiline on Sleep-wake Disturbances in Patients With Parkinson's Disease Terminated NCT01178047 Phase 4
4 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4
5 Evaluation of the Effects of Canagliflozin on Renal and Cardiovascular Outcomes in Participants With Diabetic Nephropathy Recruiting NCT02065791 Phase 3
6 NEOadjuvant Trial in Adenocarcinoma of the oEsophagus and oesophagoGastric Junction International Study (Neo-AEGIS) Recruiting NCT01726452 Phase 3
7 Combined Deep Brain Stimulation for Parkinson's Disease Withdrawn NCT01485276 Phase 1, Phase 2
8 Safety Study of the Effect of Scelectium Tortuosum (as Zembrin®)in Aged Normals Completed NCT01805518 Phase 1
9 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
10 Kinetic Tremor in Parkinsons Disease: Its Course Under Pramipexole (Mirapexin®) Treatment and Impact on Quality of Life Completed NCT01100073
11 Duodopa Home Titration Using Telemedicine: Evaluation of Use of Resources Completed NCT01956032
12 Rhythmic Motor Learning in Children With Developmental Coordination Disorders Recruiting NCT03150784
13 Phase IV-Cervical Dystonia-INTEREST IN CD2 Active, not recruiting NCT01753349

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

Variations for Parkinson Disease Type 9

ClinVar genetic disease variations for Parkinson Disease Type 9:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 ATP13A2, 1-BP DEL, 3057C deletion Pathogenic
2 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh38 Chromosome 1, 16996381: 16996381
3 ATP13A2 ATP13A2, 22-BP DUP duplication Pathogenic
4 ATP13A2 NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg) single nucleotide variant Pathogenic rs121918227 GRCh37 Chromosome 1, 17322503: 17322503
5 ATP13A2 NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs) duplication Pathogenic rs762033589 GRCh38 Chromosome 1, 16997113: 16997114
6 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh37 Chromosome 1, 17316242: 17316243
7 ATP13A2 NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg) single nucleotide variant Pathogenic rs587777053 GRCh37 Chromosome 1, 17316234: 17316234
8 ATP13A2 NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg) single nucleotide variant Pathogenic rs144701072 GRCh38 Chromosome 1, 16988455: 16988455
9 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh37 Chromosome 1, 17330894: 17330894
10 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Pathogenic rs749798211 GRCh38 Chromosome 1, 17004818: 17004830

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....