MCID: KFR001
MIFTS: 46

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 52 11 24 54 70 39 13 68
Ceroid Lipofuscinosis, Neuronal, 12 52 70 68
Parkinson Disease 9 70 27 12
Park9 54 70
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 70
 
Autosomal Recessive Parkinson Disease 9 11
Parkinson Disease Autosomal Recessive 9 70
Krppd 70
Cln12 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

Summaries for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot:70 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 ceroid lipofuscinosis, neuronal, 12, 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 Alpha-synuclein signaling and Parkinsons Disease Pathway. 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.

OMIM:52 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 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 seizures64 rare (5%) HP:0001250
2 distal sensory impairment64 rare (5%) HP:0002936
3 mask-like facies64 HP:0000298
4 anosmia64 HP:0000458
5 torticollis64 HP:0000473
6 slow saccadic eye movements64 HP:0000514
7 supranuclear gaze palsy64 HP:0000605
8 aggressive behavior64 HP:0000718
9 psychotic episodes64 HP:0000725
10 dementia64 HP:0000726
11 hallucinations64 HP:0000738
12 spasticity64 HP:0001257
13 parkinsonism64 HP:0001300
14 myoclonus64 HP:0001336
15 hyperreflexia64 HP:0001347
16 rigidity64 HP:0002063
17 postural instability64 HP:0002172
18 akinesia64 HP:0002304
19 hypokinesia64 HP:0002375
20 paraparesis64 HP:0002385
21 anarthria64 HP:0002425
22 parkinsonism with favorable response to dopaminergic medication64 HP:0002548
23 babinski sign64 HP:0003487
24 hyposmia64 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 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
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. (22117566)
2012
5
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. (22296644)
2012
6
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). (21696388)
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.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, 3057CdeletionPathogenicChr na, -1: -1
2ATP13A2NM_022089.3(ATP13A2): c.1306+5G> ASNVPathogenicrs786205056GRCh37Chr 1, 17322876: 17322876
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenicChr na, -1: -1
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_351deldeletionPathogenicrs749798211GRCh37Chr 1, 17331313: 17331325
7ATP13A2NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg)SNVLikely 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)SNVPathogenicrs587777053GRCh37Chr 1, 17316234: 17316234
11ATP13A2NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg)SNVPathogenicrs144701072GRCh37Chr 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
19.5PARK2, PARK7
28.7PARK2, PARK7, PINK1
3
Show member pathways
8.7PARK2, PARK7, PINK1
48.3ATP13A2, PARK2, 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
1presynapseGO:009879310.0PARK2, PARK7
2cell bodyGO:00442979.9PARK7, PINK1
3mitochondrial intermembrane spaceGO:00057589.9PARK7, PINK1
4Lewy bodyGO:00974139.9PARK2, PINK1
5neuron projectionGO:00430059.7ATP13A2, PARK2, PARK7
6chromatinGO:00007859.4ATP1B4, PARK7, PINK1
7ubiquitin ligase complexGO:00001518.8FBXO7, PARK2, PINK1
8mitochondrionGO:00057398.5FBXO7, PARK2, PARK7, PINK1, PLA2G6

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1cellular response to manganese ionGO:007128710.3ATP13A2, PARK2
2cation transmembrane transportGO:009865510.2ATP13A2, ATP13A5
3adult locomotory behaviorGO:000834410.2PARK2, PARK7
4dopamine uptake involved in synaptic transmissionGO:005158310.2PARK2, PARK7
5negative regulation of cell deathGO:006054810.2PARK2, PARK7
6negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.2PARK2, PARK7
7negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.2PARK2, PARK7
8negative regulation of protein phosphorylationGO:000193310.2PARK2, PARK7
9activation of protein kinase B activityGO:00321489.9PARK7, PINK1
10positive regulation of release of cytochrome c from mitochondriaGO:00902009.9PINK1, PLA2G6
11negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:19033849.9PARK7, PINK1
12negative regulation of oxidative stress-induced neuron deathGO:19032049.9PARK7, PINK1
13positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:19029589.9PARK7, PINK1
14positive regulation of peptidyl-serine phosphorylationGO:00331389.9PARK7, PINK1
15positive regulation of protein kinase B signalingGO:00518979.9PARK7, PINK1
16response to endoplasmic reticulum stressGO:00349769.9PARK2, PLA2G6
17cellular response to toxic substanceGO:00972379.9PARK2, PINK1
18macroautophagyGO:00162369.9PARK2, PINK1
19negative regulation of neuron deathGO:19012159.9ATP13A2, PARK2, PARK7
20negative regulation of JNK cascadeGO:00463299.9PARK2, PINK1
21negative regulation of reactive oxygen species metabolic processGO:20003789.8PARK2, PINK1
22positive regulation of mitochondrial fissionGO:00901419.8PARK2, PINK1
23regulation of neuron apoptotic processGO:00435239.8PARK7, PINK1
24regulation of protein targeting to mitochondrionGO:19032149.7PARK2, PINK1
25regulation of protein ubiquitinationGO:00313969.7PARK2, PINK1
26regulation of reactive oxygen species metabolic processGO:20003779.7PARK2, PINK1
27regulation of synaptic vesicle transportGO:19028039.7PARK2, PINK1
28synaptic transmission, dopaminergicGO:00019639.6PARK2, PARK7
29zinc ion homeostasisGO:00550699.6ATP13A2, PARK2
30cellular response to oxidative stressGO:00345999.6ATP13A2, PARK7, PINK1
31mitophagyGO:00004229.5FBXO7, PARK2, PINK1
32mitochondrion organizationGO:00070059.4PARK2, PARK7, PINK1
33negative regulation of gene expressionGO:00106299.4PARK2, PARK7, PINK1
34negative regulation of neuron apoptotic processGO:00435249.4PARK2, PARK7, PINK1
35negative regulation of oxidative stress-induced cell deathGO:19032029.4PARK2, PARK7, PINK1
36regulation of mitochondrion organizationGO:00108219.4ATP13A2, PARK2, PINK1
37regulation of mitophagyGO:19031469.4ATP13A2, PARK2, PINK1
38protein ubiquitinationGO:00165679.4FBXO7, PARK2, PINK1
39protein stabilizationGO:00508219.4PARK2, PARK7, PINK1
40regulation of mitochondrial membrane potentialGO:00518819.3PARK2, PARK7, PINK1

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

idNameGO IDScoreTop Affiliating Genes
1cupric ion bindingGO:190313510.3ATP13A2, PARK7
2cation-transporting ATPase activityGO:001982910.1ATP13A2, ATP13A5
3ubiquitin-specific protease bindingGO:19903819.5PARK2, PARK7
4protein kinase bindingGO:00199019.5FBXO7, PARK2, PLA2G6

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