KRPPD
MCID: PRK008
MIFTS: 29

Parkinson Disease Type 9 (KRPPD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories
Download this MalaCard

Summaries for Parkinson Disease Type 9

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 606693

Aliases & Classifications for Parkinson Disease Type 9

About this section
Sources:
43NIH Rare Diseases, 22GTR, 20GeneTests, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
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 62
cln12 disease 49
park 9 43
krppd 43
park9 49


External Ids:

ICD10 via Orphanet26 E75.4, G23.0
OMIM47 606693
UMLS via Orphanet63 C1847640

Related Diseases for Parkinson Disease Type 9

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Parkinson Disease Type 9:



Diseases related to parkinson disease type 9

Symptoms for Parkinson Disease Type 9

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

Drugs & Therapeutics for Parkinson Disease Type 9

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease Type 9

Search NIH Clinical Center for Parkinson Disease Type 9

Genetic Tests for Parkinson Disease Type 9

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Parkinson Disease Type 9:

33
Brain, Eye

Animal Models for Parkinson Disease Type 9 or affiliated genes

About this section

Publications for Parkinson Disease Type 9

About this section

Variations for Parkinson Disease Type 9

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease Type 9:

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Parkinson Disease Type 9

About this section

GO Terms for genes affiliated with Parkinson Disease Type 9

About this section

Products for genes affiliated with Parkinson Disease Type 9

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease Type 9

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet