KRPPD
MCID: PRK008
MIFTS: 31

Parkinson Disease Type 9 (KRPPD) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Parkinson Disease Type 9

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46OMIM, 32MalaCards
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MalaCards: Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to pantothenate kinase-associated neurodegeneration and dementia. An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase type 13A2). Affiliated tissues include brain and eye.

Description from OMIM:46 606693

Aliases & Classifications for Parkinson Disease Type 9

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Sources:
42NIH Rare Diseases, 22GTR, 20GeneTests, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
parkinsonim due to atp13a2 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

parkinson disease type 9 42 22
kufor-rakeb syndrome 42 20 46 48 60
pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia 42
autosomal recessive parkinson disease 9 42
parkinsonim due to atp13a2 deficiency 48
parkinson disease, late-onset 60
cln12 disease 48
park 9 42
krppd 42
park9 48


External Ids:

ICD10 via Orphanet26 E75.4, G23.0
OMIM46 606693

Related Diseases for Parkinson Disease Type 9

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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

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46OMIM
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Clinical features from OMIM:

606693

Clinical synopsis from OMIM:

606693

Drugs & Therapeutics for Parkinson Disease Type 9

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Parkinson Disease Type 9

Drug clinical trials:

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Search NIH Clinical Center for Parkinson Disease Type 9

Search CenterWatch for Parkinson Disease Type 9

Genetic Tests for Parkinson Disease Type 9

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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

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32MalaCards
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MalaCards organs/tissues related to Parkinson Disease Type 9:

32
Brain, Eye

Animal Models for Parkinson Disease Type 9 or affiliated genes

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Publications for Parkinson Disease Type 9

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Genetic Variations for Parkinson Disease Type 9

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Parkinson Disease Type 9:

62
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021
5ATP13A2p.Met854ArgVAR_070194

Expression for genes affiliated with Parkinson Disease Type 9

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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

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Compounds for genes affiliated with Parkinson Disease Type 9

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GO Terms for genes affiliated with Parkinson Disease Type 9

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Products for genes affiliated with Parkinson Disease Type 9

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease Type 9

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet