KRPPD
MCID: PRK008
MIFTS: 22

Parkinson Disease Type 9 (KRPPD) malady

Neuronal, Eye, Metabolic categories

Summaries for Parkinson Disease Type 9

Sources:
47OMIM, 33MalaCards
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MalaCards: Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to pantothenate kinase-associated neurodegeneration and parkinson disease, late-onset. An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase type 13A2). Affiliated tissues include brain.

Description from OMIM:47 606693

Aliases & Classifications for Parkinson Disease Type 9

Sources:
43NIH Rare Diseases, 22GTR, 20GeneTests, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
parkinsonim due to atp13a2 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

parkinson disease type 9 43 22
kufor-rakeb syndrome 43 20 47 49 61
pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia 43
autosomal recessive parkinson disease 9 43
parkinsonim due to atp13a2 deficiency 49
parkinson disease, late-onset 61
cln12 disease 49
park 9 43
krppd 43
park9 49


External Ids:

ICD10 via Orphanet26 E75.4, G23.0
OMIM47 606693

Related Diseases for Parkinson Disease Type 9

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Parkinson Disease Type 9:



Diseases related to parkinson disease type 9

Clinical Features for Parkinson Disease Type 9

Sources:
47OMIM
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Clinical features from OMIM:

606693

Clinical synopsis from OMIM:

606693

Drugs & Therapeutics for Parkinson Disease Type 9

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Parkinson Disease Type 9

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease Type 9

Search NIH Clinical Center for Parkinson Disease Type 9

Search CenterWatch for Parkinson Disease Type 9

Genetic Tests for Parkinson Disease Type 9

Sources:
20GeneTests, 22GTR
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Genetic tests related to Parkinson Disease Type 9:

id Genetic test Affiliating Genes
1 Kufor-rakeb Syndrome20 ATP13A2
2 Parkinson Disease 922

Anatomical Context for Parkinson Disease Type 9

Sources:
33MalaCards
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MalaCards organs/tissues related to Parkinson Disease Type 9:

33
Brain

Animal Models for Parkinson Disease Type 9 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Parkinson Disease Type 9

Sources:
51PubMed
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Articles related to Parkinson Disease Type 9:

idTitleAuthorsYear
1
An open multicenter study of the efficacy of MDL 72,974A, a monoamine oxidase type B (MAO-B) inhibitor, in Parkinson's disease. (8420209)
1993

Genetic Variations for Parkinson Disease Type 9

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Parkinson Disease Type 9:

63
id Symbol AA change Variation SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021

Expression for genes affiliated with Parkinson Disease Type 9

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkinson Disease Type 9

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

Pathways for genes affiliated with Parkinson Disease Type 9

Compounds for genes affiliated with Parkinson Disease Type 9

GO Terms for genes affiliated with Parkinson Disease Type 9

Products for genes affiliated with Parkinson Disease Type 9

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease Type 9

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet