KRPPD
MCID: PRK008
MIFTS: 29

Parkinson Disease Type 9 (KRPPD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories

Summaries for Parkinson Disease Type 9

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48OMIM, 34MalaCards
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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:48 606693

Aliases & Classifications for Parkinson Disease Type 9

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Sources:
44NIH Rare Diseases, 23GTR, 21GeneTests, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
parkinsonim due to atp13a2 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

parkinson disease type 9 44 23
kufor-rakeb syndrome 44 21 48 50 63
pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia 44
autosomal recessive parkinson disease 9 44
parkinsonim due to atp13a2 deficiency 50
parkinson disease, late-onset 63
cln12 disease 50
park 9 44
krppd 44
park9 50


External Ids:

ICD10 via Orphanet27 E75.4, G23.0
OMIM48 606693
UMLS via Orphanet64 C1847640

Related Diseases for Parkinson Disease Type 9

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Parkinson Disease Type 9:



Diseases related to parkinson disease type 9

Symptoms for Parkinson Disease Type 9

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48OMIM
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Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

Drugs & Therapeutics for Parkinson Disease Type 9

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Genetic Tests for Parkinson Disease Type 9

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21GeneTests, 23GTR
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Genetic tests related to Parkinson Disease Type 9:

id Genetic test Affiliating Genes
1 Kufor-Rakeb Syndrome21 ATP13A2
2 Parkinson Disease 923

Anatomical Context for Parkinson Disease Type 9

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34MalaCards
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MalaCards organs/tissues related to Parkinson Disease Type 9:

34
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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Variations for Parkinson Disease Type 9

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease Type 9:

65
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021
5ATP13A2p.Met854ArgVAR_070194

Clinvar genetic disease variations for Parkinson Disease Type 9:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2ATP13A2, IVS13, G-A, +5single nucleotide variantPathogenic
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenic, risk factorrs1805007GRCh37Chr 16, 89986117: 89986117
6ATP13A2ATP13A2, 2-BP INS, 1103GAinsertionPathogenic
7ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
8GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
9GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
10GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
11GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
12ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
13ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Parkinson Disease Type 9

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkinson Disease Type 9

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet