MCID: KFR001
MIFTS: 44

Kufor-Rakeb Syndrome 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 50 11 23 13 52 68 66
Parkinson Disease 9 68 25 12
Park9 11 52 68
Ceroid Lipofuscinosis, Neuronal, 12 50 68
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 68
 
Parkinson Disease Autosomal Recessive 9 68
Autosomal Recessive Parkinson Disease 9 11
Krppd 68
Cln12 68
Krs 68

Characteristics:

Orphanet epidemiological data:

52
kufor-rakeb syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult

HPO:

62
kufor-rakeb syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 606693
Disease Ontology11 DOID:0060556
Orphanet52 ORPHA306674
ICD10 via Orphanet29 G23.0
UMLS via Orphanet67 C1847640

Summaries for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot:68 Ceroid lipofuscinosis, neuronal, 12: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. 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.

MalaCards based summary: Kufor-Rakeb Syndrome, also known as parkinson disease 9, is related to cln12 disease and parkinson disease type 9, and has symptoms including seizures, distal sensory impairment and mask-like facies. 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 form of juvenile-onset atypical parkinson disease associated with supranuclear gaze palsy, spasticity, and dementia. some patients have neuroradiologic evidence of iron deposition in the basal. it is caused by homozygous or compound heterozygous mutation in the atp13a2 gene, which encodes a lysosomal type 5 atpase, on chromosome 1p36.

OMIM:50 Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated... (606693) more...

Related Diseases for Kufor-Rakeb Syndrome

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Graphical network of diseases related to Kufor-Rakeb Syndrome:



Diseases related to kufor-rakeb syndrome

Symptoms for Kufor-Rakeb Syndrome

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Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

HPO human phenotypes related to Kufor-Rakeb Syndrome:

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

UMLS symptoms related to Kufor-Rakeb Syndrome:


anosmia, muscle rigidity, muscle spasticity, myoclonus, torticollis, hypokinesia, pyramidal sign, extrapyramidal sign, sense of smell impaired

Drugs & Therapeutics for Kufor-Rakeb Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970

Search NIH Clinical Center for 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 925
2 Kufor-Rakeb Syndrome23 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

34
Brain, Eye

Animal Models for Kufor-Rakeb Syndrome or affiliated genes

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Publications for Kufor-Rakeb Syndrome

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Articles related to Kufor-Rakeb Syndrome:

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

68
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020rs144701072
4ATP13A2p.Leu1059ArgVAR_066021rs137853967
5ATP13A2p.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> Asingle nucleotide variantPathogenicrs786205056GRCh37Chr 1, 17322876: 17322876
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5ATP13A2NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicrs199624796GRCh37Chr 1, 17330894: 17330894
6ATP13A2NM_022089.3(ATP13A2): c.348-9_351deldeletionPathogenicrs749798211GRCh37Chr 1, 17331313: 17331325
7ATP13A2NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg)single nucleotide variantLikely pathogenicrs150519745GRCh37Chr 1, 17326602: 17326602
8ATP13A2NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs)duplicationPathogenicrs762033589GRCh37Chr 1, 17323608: 17323609
9ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicrs587776890GRCh37Chr 1, 17316242: 17316243
10ATP13A2NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg)single nucleotide variantPathogenicrs587777053GRCh37Chr 1, 17316234: 17316234
11ATP13A2NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg)single nucleotide variantPathogenicrs144701072GRCh37Chr 1, 17314950: 17314950

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
19.4PARK7, PINK1
29.1ATP13A2, 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
1ubiquitin ligase complexGO:00001519.9FBXO7, PINK1
2mitochondrial intermembrane spaceGO:00057589.8PARK7, PINK1
3cell bodyGO:00442979.1PARK7, PINK1
4chromatinGO:00007858.7ATP1B4, PARK7, PINK1
5mitochondrionGO:00057398.6FBXO7, PARK7, PINK1, PLA2G6

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of oxidative stress-induced cell deathGO:190320210.1PARK7, PINK1
2positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.1PARK7, PINK1
3negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.1PARK7, PINK1
4mitophagyGO:000042210.0FBXO7, PINK1
5negative regulation of oxidative stress-induced neuron deathGO:190320410.0PARK7, PINK1
6regulation of neuron apoptotic processGO:004352310.0PARK7, PINK1
7activation of protein kinase B activityGO:00321489.9PARK7, PINK1
8negative regulation of neuron deathGO:19012159.9ATP13A2, PARK7
9regulation of mitochondrial membrane potentialGO:00518819.8PARK7, PINK1
10regulation of mitochondrion organizationGO:00108219.7ATP13A2, PINK1
11positive regulation of protein kinase B signalingGO:00518979.7PARK7, PINK1
12regulation of mitophagyGO:19031469.7ATP13A2, PINK1
13cation transmembrane transportGO:00986559.7ATP13A2, ATP13A5
14positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.7PARK7, PINK1
15mitochondrion organizationGO:00070059.6PARK7, PINK1
16positive regulation of peptidyl-serine phosphorylationGO:00331389.6PARK7, PINK1
17positive regulation of release of cytochrome c from mitochondriaGO:00902009.6PINK1, PLA2G6
18cellular response to oxidative stressGO:00345999.3ATP13A2, PARK7, PINK1
19cellular calcium ion homeostasisGO:00068749.3ATP13A2, ATP13A5

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

idNameGO IDScoreTop Affiliating Genes
1cupric ion bindingGO:19031359.3ATP13A2, PARK7
2cation-transporting ATPase activityGO:00198299.3ATP13A2, ATP13A5

Sources for Kufor-Rakeb Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet