KRPPD
MCID: PRK008
MIFTS: 36

Parkinson Disease Type 9 (KRPPD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories
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Summaries for Parkinson Disease Type 9

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MalaCards based summary: Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to parkinson's disease and pantothenate kinase-associated neurodegeneration, and has symptoms including An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase type 13A2). The compound adenylate have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related mouse phenotypes are pigmentation and behavior/neurological.

Description from OMIM:46 606693

Aliases & Classifications for Parkinson Disease Type 9

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Parkinson Disease Type 9, Aliases & Descriptions:

Name: Parkinson Disease Type 9 42 22
Kufor-Rakeb Syndrome 42 20 46 48 62
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 42
Parkinson Disease 9, Autosomal Recessive 62
Autosomal Recessive Parkinson Disease 9 42
Parkinsonim Due to Atp13a2 Deficiency 48
 
Parkinson Disease, Late-Onset 62
Cln12 Disease 48
Park 9 42
Park9 48
Krppd 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 606693
ICD10 via Orphanet26 E75.4, G23.0
UMLS via Orphanet63 C1847640

Related Diseases for Parkinson Disease Type 9

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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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Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

HPO human phenotypes related to Parkinson Disease Type 9:

(show all 26)
id Description Frequency HPO Source Accession
1 seizures rare (5%) HP:0001250
2 distal sensory impairment rare (5%) HP:0002936
3 autosomal recessive inheritance HP:0000007
4 mask-like facies HP:0000298
5 anosmia HP:0000458
6 torticollis HP:0000473
7 slow saccadic eye movements HP:0000514
8 supranuclear gaze palsy HP:0000605
9 aggressive behavior HP:0000718
10 psychotic episodes HP:0000725
11 dementia HP:0000726
12 hallucinations HP:0000738
13 spasticity HP:0001257
14 parkinsonism HP:0001300
15 myoclonus HP:0001336
16 hyperreflexia HP:0001347
17 rigidity HP:0002063
18 postural instability HP:0002172
19 akinesia HP:0002304
20 hypokinesia HP:0002375
21 paraparesis HP:0002385
22 anarthria HP:0002425
23 parkinsonism with favorable response to dopaminergic medication HP:0002548
24 babinski sign HP:0003487
25 rapidly progressive HP:0003678
26 hyposmia HP:0004409

Drugs & Therapeutics for Parkinson Disease Type 9

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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

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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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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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MGI Mouse Phenotypes related to Parkinson Disease Type 9:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7MC1R, ATP13A2
2MP:00053868.5MC1R, ATP13A2, GBA

Publications for Parkinson Disease Type 9

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Variations for Parkinson Disease Type 9

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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:

6 (show all 11)
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 variantPathogenicrs1805007GRCh37Chr 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 variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
9GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
10ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
11ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Parkinson Disease Type 9

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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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Sources:
44Novoseek
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Compounds related to Parkinson Disease Type 9 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adenylate449.1MC1R, GBA

GO Terms for genes affiliated with Parkinson Disease Type 9

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Cellular components related to Parkinson Disease Type 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.3ATP13A2, GBA

Biological processes related to Parkinson Disease Type 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.3ATP13A2, GBA

Molecular functions related to Parkinson Disease Type 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.5MC1R, ATP13A2, GBA

Products for genes affiliated with Parkinson Disease Type 9

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet