KRS
MCID: KFR001
MIFTS: 44

Kufor-Rakeb Syndrome (KRS) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Mental diseases

Aliases & Classifications for Kufor-Rakeb Syndrome

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Aliases & Descriptions for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 52 11 24 54 70 39 13 68
Parkinson Disease 9 70 27 12
Park9 54 70
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 70
Autosomal Recessive Juvenile Onset Parkinson Disease 9 11
 
Parkinson Disease Autosomal Recessive 9 70
Autosomal Recessive Parkinson Disease 9 11
Ceroid Lipofuscinosis, Neuronal, 12 52
Krppd 70
Krs 70

Characteristics:

Orphanet epidemiological data:

54
kufor-rakeb syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult

HPO:

64
kufor-rakeb syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM52 606693
Disease Ontology11 DOID:0060556
Orphanet54 ORPHA306674
UMLS via Orphanet69 C1847640
ICD10 via Orphanet31 G23.0
MedGen37 C1847640

Summaries for Kufor-Rakeb Syndrome

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OMIM:52 Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated... (606693) more...

MalaCards based summary: Kufor-Rakeb Syndrome, also known as parkinson disease 9, is related to parkinson disease type 9 and neurodegeneration with brain iron accumulation 1, and has symptoms including anosmia, anosmia and ataxia. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase 13A2), and among its related pathways are Parkinsons Disease Pathway and Neuroscience. Affiliated tissues include brain and eye.

Disease Ontology:11 A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has material basis in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36.

UniProtKB/Swiss-Prot:70 Kufor-Rakeb syndrome: A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.

Related Diseases for Kufor-Rakeb Syndrome

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Graphical network of the top 20 diseases related to Kufor-Rakeb Syndrome:



Diseases related to kufor-rakeb syndrome

Symptoms & Phenotypes for Kufor-Rakeb Syndrome

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Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

Human phenotypes related to Kufor-Rakeb Syndrome:

 64 (show all 24)
id Description HPO Frequency HPO Source Accession
1 mask-like facies64 HP:0000298
2 anosmia64 HP:0000458
3 torticollis64 HP:0000473
4 slow saccadic eye movements64 HP:0000514
5 supranuclear gaze palsy64 HP:0000605
6 aggressive behavior64 HP:0000718
7 psychotic episodes64 HP:0000725
8 dementia64 HP:0000726
9 hallucinations64 HP:0000738
10 seizures64 HP:0001250
11 spasticity64 HP:0001257
12 parkinsonism64 HP:0001300
13 myoclonus64 HP:0001336
14 hyperreflexia64 HP:0001347
15 rigidity64 HP:0002063
16 postural instability64 HP:0002172
17 akinesia64 HP:0002304
18 hypokinesia64 HP:0002375
19 paraparesis64 HP:0002385
20 anarthria64 HP:0002425
21 parkinsonism with favorable response to dopaminergic medication64 HP:0002548
22 distal sensory impairment64 HP:0002936
23 babinski sign64 HP:0003487
24 hyposmia64 HP:0004409

UMLS symptoms related to Kufor-Rakeb Syndrome:


anosmia, ataxia, muscle rigidity, myoclonus, torticollis, tremor, abnormal pyramidal signs, abnormality of extrapyramidal motor function, hyposmia

Drugs & Therapeutics for Kufor-Rakeb Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Study in Young Onset Parkinson's DiseaseUnknown statusNCT01529970

Search NIH Clinical Center for Kufor-Rakeb Syndrome


Cochrane evidence based reviews: kufor-rakeb syndrome

Genetic Tests for Kufor-Rakeb Syndrome

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Genetic tests related to Kufor-Rakeb Syndrome:

id Genetic test Affiliating Genes
1 Parkinson Disease 927
2 Kufor-Rakeb Syndrome24 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

36
Brain, Eye

Publications for Kufor-Rakeb Syndrome

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Articles related to Kufor-Rakeb Syndrome:

(show all 11)
idTitleAuthorsYear
1
Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report. (27673054)
2016
2
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. (27039055)
2016
3
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. (23630171)
2013
4
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). (21696388)
2012
5
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. (22117566)
2012
6
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. (22296644)
2012
7
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. (21542062)
2011
8
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. (21724849)
2011
9
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. (20683840)
2010
10
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. (11584046)
2001
11
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. (8085432)
1994

Variations for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Kufor-Rakeb Syndrome:

70
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Thr12MetVAR_058451rs151117874
2ATP13A2p.Gly504ArgVAR_058455rs121918227
3ATP13A2p.Gly533ArgVAR_058456
4ATP13A2p.Ala746ThrVAR_058458rs147277743
5ATP13A2p.Phe182LeuVAR_066019
6ATP13A2p.Gly877ArgVAR_066020rs144701072
7ATP13A2p.Leu1059ArgVAR_066021rs137853967
8ATP13A2p.Met854ArgVAR_070194rs587777053

Clinvar genetic disease variations for Kufor-Rakeb Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2NM_ 022089.3(ATP13A2): c.1306+5G> ASNVPathogenicrs786205056GRCh38Chr 1, 16996381: 16996381
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_ 022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)SNVPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5ATP13A2NM_ 022089.3(ATP13A2): c.490C> T (p.Arg164Trp)SNVPathogenicrs199624796GRCh37Chr 1, 17330894: 17330894
6ATP13A2NM_ 022089.3(ATP13A2): c.348-9_ 351deldeletionPathogenicrs749798211GRCh38Chr 1, 17004818: 17004830
7ATP13A2NM_ 022089.3(ATP13A2): c.943G> A (p.Gly315Arg)SNVLikely pathogenicrs150519745GRCh38Chr 1, 17000107: 17000107
8ATP13A2NM_ 022089.3(ATP13A2): c.1101_ 1102dupGA (p.Thr368Argfs)duplicationPathogenicrs762033589GRCh38Chr 1, 16997113: 16997114
9ATP13A2NM_ 022089.3(ATP13A2): c.2552_ 2553delTT (p.Phe851Cysfs)deletionPathogenicrs587776890GRCh37Chr 1, 17316242: 17316243
10ATP13A2NM_ 022089.3(ATP13A2): c.2561T> G (p.Met854Arg)SNVPathogenicrs587777053GRCh37Chr 1, 17316234: 17316234
11ATP13A2NM_ 022089.3(ATP13A2): c.2629G> A (p.Gly877Arg)SNVPathogenicrs144701072GRCh38Chr 1, 16988455: 16988455

Expression for genes affiliated with Kufor-Rakeb Syndrome

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Search GEO for disease gene expression data for Kufor-Rakeb Syndrome.

Pathways for genes affiliated with Kufor-Rakeb Syndrome

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Pathways related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1PARK7, PINK1
28.8ATP13A2, PARK7, PINK1

GO Terms for genes affiliated with Kufor-Rakeb Syndrome

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Cellular components related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell bodyGO:00442979.7PARK7, PINK1
2chromatinGO:00007859.7PARK7, PINK1
3mitochondrial intermembrane spaceGO:00057589.7PARK7, PINK1
4ubiquitin ligase complexGO:00001519.5FBXO7, PINK1

Biological processes related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1ATP hydrolysis coupled cation transmembrane transportGO:009913210.3ATP13A2, ATP13A5
2cation transportGO:000681210.3ATP13A2, ATP13A5
3cellular calcium ion homeostasisGO:000687410.3ATP13A2, ATP13A5
4mitophagyGO:000042210.1FBXO7, PINK1
5regulation of mitochondrion organizationGO:001082110.0ATP13A2, PINK1
6regulation of mitophagyGO:19031469.9ATP13A2, PINK1
7positive regulation of release of cytochrome c from mitochondriaGO:00902009.9PINK1, PLA2G6
8positive regulation of mitophagyGO:19035999.8FBXO7, PARK7
9activation of protein kinase B activityGO:00321489.8PARK7, PINK1
10mitochondrion organizationGO:00070059.8PARK7, PINK1
11negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:19033849.8PARK7, PINK1
12negative regulation of oxidative stress-induced cell deathGO:19032029.8PARK7, PINK1
13positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:19029589.8PARK7, PINK1
14positive regulation of peptidyl-serine phosphorylationGO:00331389.8PARK7, PINK1
15positive regulation of protein kinase B signalingGO:00518979.7PARK7, PINK1
16positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7PARK7, PINK1
17regulation of mitochondrial membrane potentialGO:00518819.6PARK7, PINK1
18negative regulation of neuron deathGO:19012159.5ATP13A2, FBXO7, PARK7
19cellular response to oxidative stressGO:00345999.4ATP13A2, PARK7, PINK1
20negative regulation of oxidative stress-induced neuron deathGO:19032049.3FBXO7, PARK7, PINK1
21regulation of neuron apoptotic processGO:00435239.1PARK7, PINK1

Molecular functions related to Kufor-Rakeb Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:00053889.8ATP13A2, ATP13A5
2cation-transporting ATPase activityGO:00198299.6ATP13A2, ATP13A5
3cupric ion bindingGO:19031359.3ATP13A2, PARK7

Sources for Kufor-Rakeb Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet