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

Aliases & Descriptions for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 54 12 24 56 66 42 14 69
Parkinson Disease 9 66 29 13
Park9 56 66
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 66
Autosomal Recessive Juvenile Onset Parkinson Disease 9 12
Autosomal Recessive Parkinson Disease 9 12
Parkinson Disease Autosomal Recessive 9 66
Ceroid Lipofuscinosis, Neuronal, 12 54
Krppd 66
Krs 66

Characteristics:

Orphanet epidemiological data:

56
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult;

HPO:

32
kufor-rakeb syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:



External Ids:

OMIM 54 606693
Disease Ontology 12 DOID:0060556
Orphanet 56 ORPHA306674
UMLS via Orphanet 70 C1847640
ICD10 via Orphanet 34 G23.0
MedGen 40 C1847640
UMLS 69 C1847640

Summaries for Kufor-Rakeb Syndrome

OMIM : 54 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 seizures, myoclonus and torticollis. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase 13A2), and among its related pathways/superpathways are Neuroscience and Parkinsons Disease Pathway. Affiliated tissues include brain and eye.

Disease Ontology : 12 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 : 66 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

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



Diseases related to Kufor-Rakeb Syndrome

Symptoms & Phenotypes for Kufor-Rakeb Syndrome

Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

Human phenotypes related to Kufor-Rakeb Syndrome:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 torticollis 32 HP:0000473
4 paraparesis 32 HP:0002385
5 anosmia 32 HP:0000458
6 hyposmia 32 HP:0004409
7 spasticity 32 HP:0001257
8 hyperreflexia 32 HP:0001347
9 hallucinations 32 HP:0000738
10 babinski sign 32 HP:0003487
11 mask-like facies 32 HP:0000298
12 psychotic episodes 32 HP:0000725
13 rigidity 32 HP:0002063
14 dementia 32 HP:0000726
15 aggressive behavior 32 HP:0000718
16 hypokinesia 32 HP:0002375
17 parkinsonism 32 HP:0001300
18 anarthria 32 HP:0002425
19 supranuclear gaze palsy 32 HP:0000605
20 postural instability 32 HP:0002172
21 slow saccadic eye movements 32 HP:0000514
22 distal sensory impairment 32 HP:0002936
23 akinesia 32 HP:0002304
24 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970

Search NIH Clinical Center for Kufor-Rakeb Syndrome

Cochrane evidence based reviews: kufor-rakeb syndrome

Genetic Tests for Kufor-Rakeb Syndrome

Genetic tests related to Kufor-Rakeb Syndrome:

id Genetic test Affiliating Genes
1 Parkinson Disease 9 29
2 Kufor-Rakeb Syndrome 24 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

39
Brain, Eye

Publications for Kufor-Rakeb Syndrome

Articles related to Kufor-Rakeb Syndrome:

(show all 11)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 ATP13A2 p.Thr12Met VAR_058451 rs151117874
2 ATP13A2 p.Gly504Arg VAR_058455 rs121918227
3 ATP13A2 p.Gly533Arg VAR_058456
4 ATP13A2 p.Ala746Thr VAR_058458 rs147277743
5 ATP13A2 p.Phe182Leu VAR_066019
6 ATP13A2 p.Gly877Arg VAR_066020 rs144701072
7 ATP13A2 p.Leu1059Arg VAR_066021 rs137853967
8 ATP13A2 p.Met854Arg VAR_070194 rs587777053

ClinVar genetic disease variations for Kufor-Rakeb Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 ATP13A2, 1-BP DEL, 3057C deletion Pathogenic
2 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh38 Chromosome 1, 16996381: 16996381
3 ATP13A2 ATP13A2, 22-BP DUP duplication Pathogenic
4 ATP13A2 NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg) single nucleotide variant Pathogenic rs121918227 GRCh37 Chromosome 1, 17322503: 17322503
5 ATP13A2 NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs) duplication Pathogenic rs762033589 GRCh38 Chromosome 1, 16997113: 16997114
6 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh37 Chromosome 1, 17316242: 17316243
7 ATP13A2 NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg) single nucleotide variant Pathogenic rs587777053 GRCh37 Chromosome 1, 17316234: 17316234
8 ATP13A2 NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg) single nucleotide variant Pathogenic rs144701072 GRCh38 Chromosome 1, 16988455: 16988455
9 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh37 Chromosome 1, 17330894: 17330894
10 ATP13A2 NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg) single nucleotide variant Likely pathogenic rs150519745 GRCh38 Chromosome 1, 17000107: 17000107
11 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Pathogenic rs749798211 GRCh38 Chromosome 1, 17004818: 17004830

Expression for Kufor-Rakeb Syndrome

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

Pathways for Kufor-Rakeb Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.31 ATP13A2 PARK7 PINK1
2 10.88 PARK7 PINK1

GO Terms for Kufor-Rakeb Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.26 PARK7 PINK1
2 ubiquitin ligase complex GO:0000151 9.16 FBXO7 PINK1
3 cell body GO:0044297 8.96 PARK7 PINK1
4 mitochondrial intermembrane space GO:0005758 8.62 PARK7 PINK1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.6 PARK7 PINK1
2 cellular calcium ion homeostasis GO:0006874 9.59 ATP13A2 ATP13A5
3 mitochondrion organization GO:0007005 9.58 PARK7 PINK1
4 positive regulation of protein kinase B signaling GO:0051897 9.58 PARK7 PINK1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.57 PARK7 PINK1
6 cation transport GO:0006812 9.56 ATP13A2 ATP13A5
7 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.55 ATP13A2 ATP13A5
8 regulation of mitochondrial membrane potential GO:0051881 9.54 PARK7 PINK1
9 cellular response to oxidative stress GO:0034599 9.54 ATP13A2 PARK7 PINK1
10 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.52 PINK1 PLA2G6
11 regulation of mitophagy GO:1903146 9.51 ATP13A2 PINK1
12 negative regulation of neuron death GO:1901215 9.5 ATP13A2 FBXO7 PARK7
13 mitophagy GO:0000422 9.49 FBXO7 PINK1
14 activation of protein kinase B activity GO:0032148 9.48 PARK7 PINK1
15 regulation of neuron apoptotic process GO:0043523 9.46 PARK7 PINK1
16 regulation of mitochondrion organization GO:0010821 9.43 ATP13A2 PINK1
17 positive regulation of mitophagy GO:1903599 9.4 FBXO7 PARK7
18 negative regulation of oxidative stress-induced cell death GO:1903202 9.26 PARK7 PINK1
19 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.16 PARK7 PINK1
20 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 8.96 PARK7 PINK1
21 negative regulation of oxidative stress-induced neuron death GO:1903204 8.8 FBXO7 PARK7 PINK1

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

id Name GO ID Score Top Affiliating Genes
1 calcium-transporting ATPase activity GO:0005388 9.16 ATP13A2 ATP13A5
2 cation-transporting ATPase activity GO:0019829 8.96 ATP13A2 ATP13A5
3 cupric ion binding GO:1903135 8.62 ATP13A2 PARK7

Sources for Kufor-Rakeb Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....