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 51 11 24 53 69 38 13 67
Ceroid Lipofuscinosis, Neuronal, 12 51 69 67
Parkinson Disease 9 69 26 12
Park9 53 69
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 69
 
Autosomal Recessive Parkinson Disease 9 11
Parkinson Disease Autosomal Recessive 9 69
Krppd 69
Cln12 69
Krs 69

Characteristics:

Orphanet epidemiological data:

53
kufor-rakeb syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult

HPO:

63
kufor-rakeb syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 606693
Disease Ontology11 DOID:0060556
Orphanet53 ORPHA306674
UMLS via Orphanet68 C1847640
ICD10 via Orphanet30 G23.0

Summaries for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 24)
id Description HPO Frequency HPO Source Accession
1 seizures63 rare (5%) HP:0001250
2 distal sensory impairment63 rare (5%) HP:0002936
3 mask-like facies63 HP:0000298
4 anosmia63 HP:0000458
5 torticollis63 HP:0000473
6 slow saccadic eye movements63 HP:0000514
7 supranuclear gaze palsy63 HP:0000605
8 aggressive behavior63 HP:0000718
9 psychotic episodes63 HP:0000725
10 dementia63 HP:0000726
11 hallucinations63 HP:0000738
12 spasticity63 HP:0001257
13 parkinsonism63 HP:0001300
14 myoclonus63 HP:0001336
15 hyperreflexia63 HP:0001347
16 rigidity63 HP:0002063
17 postural instability63 HP:0002172
18 akinesia63 HP:0002304
19 hypokinesia63 HP:0002375
20 paraparesis63 HP:0002385
21 anarthria63 HP:0002425
22 parkinsonism with favorable response to dopaminergic medication63 HP:0002548
23 babinski sign63 HP:0003487
24 hyposmia63 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 926
2 Kufor-Rakeb Syndrome24 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

35
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:

(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:

69
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
1Lewy bodyGO:00974139.8PARK2, PINK1
2presynapseGO:00987939.8PARK2, PARK7
3mitochondrial intermembrane spaceGO:00057589.5PARK7, PINK1
4chromatinGO:00007859.3ATP1B4, PARK7, PINK1
5cell bodyGO:00442979.2PARK7, PINK1
6neuron projectionGO:00430059.1ATP13A2, PARK2, PARK7
7ubiquitin ligase complexGO:00001518.9FBXO7, PARK2, PINK1
8mitochondrionGO:00057397.6FBXO7, PARK2, PARK7, PINK1, PLA2G6

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1zinc ion homeostasisGO:005506910.2ATP13A2, PARK2
2cellular response to manganese ionGO:007128710.2ATP13A2, PARK2
3negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.2PARK2, PARK7
4dopamine uptake involved in synaptic transmissionGO:005158310.2PARK2, PARK7
5cation transmembrane transportGO:009865510.0ATP13A2, ATP13A5
6negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.0PARK2, PARK7
7negative regulation of cell deathGO:006054810.0PARK2, PARK7
8positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:19029589.9PARK7, PINK1
9negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:19033849.9PARK7, PINK1
10response to endoplasmic reticulum stressGO:00349769.8PARK2, PLA2G6
11regulation of synaptic vesicle transportGO:19028039.8PARK2, PINK1
12cellular response to toxic substanceGO:00972379.8PARK2, PINK1
13regulation of neuron apoptotic processGO:00435239.8PARK7, PINK1
14activation of protein kinase B activityGO:00321489.8PARK7, PINK1
15negative regulation of protein phosphorylationGO:00019339.8PARK2, PARK7
16regulation of protein targeting to mitochondrionGO:19032149.7PARK2, PINK1
17macroautophagyGO:00162369.7PARK2, PINK1
18positive regulation of protein kinase B signalingGO:00518979.7PARK7, PINK1
19adult locomotory behaviorGO:00083449.6PARK2, PARK7
20negative regulation of reactive oxygen species metabolic processGO:20003789.6PARK2, PINK1
21negative regulation of oxidative stress-induced neuron deathGO:19032049.6PARK7, PINK1
22negative regulation of JNK cascadeGO:00463299.6PARK2, PINK1
23negative regulation of neuron deathGO:19012159.6ATP13A2, PARK2, PARK7
24positive regulation of release of cytochrome c from mitochondriaGO:00902009.6PINK1, PLA2G6
25synaptic transmission, dopaminergicGO:00019639.5PARK2, PARK7
26regulation of reactive oxygen species metabolic processGO:20003779.5PARK2, PINK1
27positive regulation of mitochondrial fissionGO:00901419.5PARK2, PINK1
28negative regulation of oxidative stress-induced cell deathGO:19032029.4PARK2, PARK7, PINK1
29regulation of protein ubiquitinationGO:00313969.4PARK2, PINK1
30positive regulation of peptidyl-serine phosphorylationGO:00331389.3PARK7, PINK1
31mitophagyGO:00004229.3FBXO7, PARK2, PINK1
32regulation of mitochondrial membrane potentialGO:00518819.2PARK2, PARK7, PINK1
33cellular response to oxidative stressGO:00345999.2ATP13A2, PARK7, PINK1
34protein ubiquitinationGO:00165679.2FBXO7, PARK2, PINK1
35regulation of mitochondrion organizationGO:00108219.1ATP13A2, PARK2, PINK1
36regulation of mitophagyGO:19031469.1ATP13A2, PARK2, PINK1
37mitochondrion organizationGO:00070059.0PARK2, PARK7, PINK1
38negative regulation of gene expressionGO:00106298.9PARK2, PARK7, PINK1
39protein stabilizationGO:00508218.9PARK2, PARK7, PINK1
40negative regulation of neuron apoptotic processGO:00435248.7PARK2, PARK7, PINK1

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

idNameGO IDScoreTop Affiliating Genes
1cupric ion bindingGO:190313510.2ATP13A2, PARK7
2cation-transporting ATPase activityGO:001982910.0ATP13A2, ATP13A5
3ubiquitin-specific protease bindingGO:19903819.7PARK2, PARK7
4protein kinase bindingGO:00199019.2FBXO7, PARK2, PLA2G6

Sources for Kufor-Rakeb Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet