KRS
MCID: KFR001
MIFTS: 60

Kufor-Rakeb Syndrome (KRS)

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

Aliases & Classifications for Kufor-Rakeb Syndrome

MalaCards integrated aliases for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 56 12 74 52 58 73 36 29 6 43 15 71
Park9 56 58 73
Krppd 56 52 73
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 56 73
Autosomal Recessive Parkinson Disease 9 12 52
Parkinson Disease 9 73 13
Krs 56 73
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia; Krppd 56
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 52
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset; Park9 56
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset 56
Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis 58
Autosomal Recessive Juvenile Onset Parkinson Disease 9 12
Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis 58
Parkinson Disease Autosomal Recessive 9 73
Parkinson Disease Type 9 52
Cln12 Disease 58
Park 9 52

Characteristics:

Orphanet epidemiological data:

58
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult;
atp13a2-related juvenile neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable neurologic phenotype
average age of onset 13 years
rapidly progressive (6-24 months)
rapidly progressive (6-24 months) (in some patients)
favorable initial response to l-dopa
therapy-induced dyskinesias


HPO:

31
kufor-rakeb syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Kufor-Rakeb Syndrome

OMIM : 56 Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). (606693)

MalaCards based summary : Kufor-Rakeb Syndrome, also known as park9, is related to juvenile-onset parkinson's disease and tremor, and has symptoms including ataxia, myoclonus and tremor. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways are Parkinson disease and Chks in Checkpoint Regulation. The drug Dopa Decarboxylase has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and caudate nucleus, and related phenotypes are babinski sign and rigidity

Disease Ontology : 12 An early-onset Parkinson's 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 on chromosome 1p36.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306674 Definition Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia ), supranuclear palsy, and cognitive impairment. Visit the Orphanet disease page for more resources.

KEGG : 36 Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Kufor-Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson... more...

Related Diseases for Kufor-Rakeb Syndrome

Diseases related to Kufor-Rakeb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 juvenile-onset parkinson's disease 31.0 SNCA PRKN ATP13A2
2 tremor 30.9 SNCA PRKN LRRK2 C19orf12
3 neurodegeneration with brain iron accumulation 1 30.6 WDR45 SNCA PLA2G6 PANK2 PANK1 FA2H
4 peripheral nervous system disease 30.4 SNCA PRKN PINK1 LRRK2
5 multiple system atrophy 1 29.1 SNCA SLC6A3 PRKN PARK7 LRRK2
6 rem sleep behavior disorder 29.1 SNCA SLC6A3 PRKN PINK1 LRRK2
7 early-onset parkinson's disease 28.7 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
8 amyotrophic lateral sclerosis 1 28.5 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
9 movement disease 28.3 SNCA SLC6A3 PRKN PLA2G6 PINK1 PARK7
10 parkinson disease, late-onset 28.1 VPS35 SNCA SLC6A3 RAB29 PRKN PLA2G6
11 dystonia 27.2 WDR45 SLC6A3 PRKN PLA2G6 PINK1 PARK7
12 neurodegeneration with brain iron accumulation 26.7 WDR45 SNCA SLC6A3 PRKN PLA2G6 PINK1
13 spastic paraplegia 78, autosomal recessive 11.6
14 ataxia and polyneuropathy, adult-onset 10.7
15 spasticity 10.7
16 myoclonus 10.6
17 long qt syndrome 10.6
18 autosomal recessive disease 10.4
19 polyneuropathy 10.4
20 neuronal ceroid lipofuscinosis 10.4
21 hereditary spastic paraplegia 10.4
22 paraplegia 10.4
23 axonal neuropathy 10.4
24 neuropathy 10.4
25 cerebral atrophy 10.4
26 long qt syndrome 2 10.4
27 lrrk2 parkinson disease 10.3 SNCA LRRK2
28 kidney cancer 10.3
29 rapidly involuting congenital hemangioma 10.3
30 oromandibular dystonia 10.3 PLA2G6 PANK2 C19orf12
31 spastic paraplegia 43, autosomal recessive 10.3 PLA2G6 FA2H C19orf12
32 cardiac arrhythmia 10.3
33 triiodothyronine receptor auxiliary protein 10.3
34 familial long qt syndrome 10.3
35 parkinson disease 6, autosomal recessive early-onset 10.2 PINK1 PARK7
36 muscular dystrophy, congenital, megaconial type 10.2 PRKN PINK1
37 parkinson disease 1, autosomal dominant 10.2 SNCA PRKN LRRK2
38 hereditary late-onset parkinson disease 10.1 VPS35 SNCA LRRK2
39 parkinson disease 14, autosomal recessive 10.1 SNCA PLA2G6
40 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 SNCA PARK7 LRRK2
41 parkinson disease 21 10.1 VPS35 PRKN LRRK2
42 lateral sclerosis 10.1
43 insulinoma 10.1
44 autonomic dysfunction 10.1
45 atypical juvenile parkinsonism 10.1
46 cerebral degeneration 10.1 SNCA PLA2G6 PANK2 FA2H
47 leukemia, chronic lymphocytic 10.0
48 chromosome 2q35 duplication syndrome 10.0
49 zinc finger protein 1 10.0
50 thymoma, familial 10.0

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



Diseases related to Kufor-Rakeb Syndrome

Symptoms & Phenotypes for Kufor-Rakeb Syndrome

Human phenotypes related to Kufor-Rakeb Syndrome:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0003487
2 rigidity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002063
3 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
4 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
5 slow saccadic eye movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0000514
6 hyperreflexia in upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0007350
7 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
8 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
9 fatigue 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0012378
10 myoclonus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001336
11 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
12 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
13 abnormality of finger 58 31 frequent (33%) Frequent (79-30%) HP:0001167
14 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
15 anarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002425
16 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
17 visual hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0002367
18 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
19 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
20 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
21 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
22 bradykinesia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002067
23 diffuse cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002506
24 leg muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0008969
25 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
26 oculogyric crisis 58 31 frequent (33%) Frequent (79-30%) HP:0010553
27 parkinsonism with favorable response to dopaminergic medication 58 31 frequent (33%) Frequent (79-30%) HP:0002548
28 upgaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0025331
29 difficulty in tongue movements 58 31 frequent (33%) Frequent (79-30%) HP:0000183
30 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
31 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
32 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001288
33 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
34 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
35 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
36 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
37 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
38 dysarthria 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001260
39 abnormality of the foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001760
40 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
41 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
42 vertical supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000511
43 abnormal caudate nucleus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002339
44 lingual dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031008
45 stooped posture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025403
46 hyperactive patellar reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0007083
47 eyelid apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000658
48 distal sensory impairment 31 occasional (7.5%) HP:0002936
49 seizure 31 occasional (7.5%) HP:0001250
50 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
psychotic episodes
aggression

Head And Neck Face:
mask-like facies

Head And Neck Neck:
torticollis

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
axonal sensorimotor peripheral neuropathy (in some patients)

Neurologic Central Nervous System:
ataxia
myoclonus
tremor
hyperreflexia
mask-like facies
more
Head And Neck Nose:
anosmia
hyposmia

Head And Neck Eyes:
supranuclear gaze palsy
slow saccades
oculogyric dystonic spasms

Laboratory Abnormalities:
cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in 1 family studied)

Clinical features from OMIM:

606693

UMLS symptoms related to Kufor-Rakeb Syndrome:


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

MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATP13A2 FA2H FBXO7 KARS1 LRRK2 PANK1
2 cellular MP:0005384 10 ATP13A2 DCAF17 FBXO7 LRRK2 PANK1 PANK2
3 homeostasis/metabolism MP:0005376 9.8 ATP13A2 FA2H FBXO7 LRRK2 PANK1 PANK2
4 nervous system MP:0003631 9.4 ATP13A2 FA2H LRRK2 PANK2 PARK7 PINK1

Drugs & Therapeutics for Kufor-Rakeb Syndrome

Drugs for Kufor-Rakeb Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dopa Decarboxylase Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase1 Open Label Safety Study of Intrastriatal Infusion of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase (AAV-hAADC-2) in Subjects With Parkinson's Disease [AAV-hAADC-2-003] Completed NCT00229736 Phase 1
2 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:

# Genetic test Affiliating Genes
1 Kufor-Rakeb Syndrome 29 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

40
Brain, Eye, Caudate Nucleus, Tongue, Cortex, Spinal Cord, Lung

Publications for Kufor-Rakeb Syndrome

Articles related to Kufor-Rakeb Syndrome:

(show top 50) (show all 140)
# Title Authors PMID Year
1
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. 56 61 6
22388936 2012
2
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 61 56 6
20853184 2011
3
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. 61 56 6
20310007 2010
4
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. 56 6 61
17485642 2007
5
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 61 6 56
16964263 2006
6
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. 56 6
21094623 2011
7
Familial juvenile Parkinsonism. 56 6
495089 1979
8
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). 56 61
28137957 2017
9
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. 6 61
21724849 2011
10
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. 61 56
21362476 2011
11
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 56 61
21060012 2010
12
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. 61 56
15986421 2005
13
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. 56 61
11584046 2001
14
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. 56 61
8085432 1994
15
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
16
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
17
Parkinson Disease Overview 6
20301402 2004
18
Tibetan terrier model of canine ceroid lipofuscinosis. 56
1609844 1992
19
Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET. 56
2292699 1990
20
Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries. 56
4082923 1985
21
Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish. 61
32529115 2020
22
Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function. 61
32032734 2020
23
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. 61
31944623 2020
24
Kufor-Rakeb Syndrome/ Parkinson Disease Type 9. 61
31933133 2020
25
Different cortical excitability profiles in hereditary brain iron and copper accumulation. 61
31773358 2020
26
ATP13A2 deficiency disrupts lysosomal polyamine export. 61
31996848 2020
27
Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons. 61
31902706 2020
28
The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. 61
31132336 2019
29
Zn homeostasis in genetic models of Parkinson's disease in Caenorhabditis elegans. 61
31345364 2019
30
From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations. 61
31151786 2019
31
Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity. 61
31097622 2019
32
Yeast as a Tool for Deeper Understanding of Human Manganese-Related Diseases. 61
31319631 2019
33
Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report. 61
31232173 2019
34
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. 61
30956123 2019
35
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. 61
30992063 2019
36
Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome. 61
31588715 2019
37
ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion. 61
30538141 2019
38
Overexpression of human Atp13a2Isoform-1 protein protects cells against manganese and starvation-induced toxicity. 61
31393918 2019
39
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis. 61
29859891 2018
40
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. 61
29903538 2018
41
Exacerbation of sensorimotor dysfunction in mice deficient in Atp13a2 and overexpressing human wildtype alpha-synuclein. 61
29407413 2018
42
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome. 61
30868101 2018
43
Zinc Detoxification: A Functional Genomics and Transcriptomics Analysis in Drosophila melanogaster Cultured Cells. 61
29223976 2018
44
Overlapping expression patterns and functions of three paralogous P5B ATPases in Caenorhabditis elegans. 61
29547664 2018
45
The effect of manganese exposure in Atp13a2-deficient mice. 61
28595912 2018
46
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers. 61
30746398 2018
47
The strategic function of the P5-ATPase ATP13A2 in toxic waste disposal. 61
29169913 2018
48
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. 61
29966207 2018
49
Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network. 61
29096219 2017
50
Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease. 61
28894968 2017

Variations for Kufor-Rakeb Syndrome

ClinVar genetic disease variations for Kufor-Rakeb Syndrome:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP13A2 NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)SNV Pathogenic 465252 rs773246271 1:17318840-17318840 1:16992345-16992345
2 ATP13A2 NM_022089.4(ATP13A2):c.3153_3154CT[2] (p.Leu1053fs)short repeat Pathogenic 660925 1:17313377-17313378 1:16986882-16986883
3 ATP13A2 NC_000001.11:g.(?_16991714)_(16992601_?)deldeletion Pathogenic 660676 1:17318209-17319096 1:16991714-16992601
4 ATP13A2 NM_022089.4(ATP13A2):c.409del (p.Val137fs)deletion Pathogenic 859962 1:17331255-17331255 1:17004760-17004760
5 ATP13A2 ATP13A2, 1-BP DEL, 3057Cdeletion Pathogenic 1218
6 ATP13A2 NM_022089.4(ATP13A2):c.1306+5G>ASNV Pathogenic 1219 rs786205056 1:17322876-17322876 1:16996381-16996381
7 ATP13A2 ATP13A2, 22-BP DUPduplication Pathogenic 1220
8 ATP13A2 NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)SNV Pathogenic 1221 rs121918227 1:17322503-17322503 1:16996008-16996008
9 ATP13A2 NM_022089.4(ATP13A2):c.1099_1100GA[3] (p.Thr368fs)short repeat Pathogenic 30833 rs762033589 1:17323607-17323608 1:16997112-16997113
10 ATP13A2 NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs)deletion Pathogenic 30834 rs587776890 1:17316242-17316243 1:16989747-16989748
11 ATP13A2 NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg)SNV Pathogenic 66098 rs587777053 1:17316234-17316234 1:16989739-16989739
12 ATP13A2 NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg)SNV Pathogenic 66099 rs144701072 1:17314950-17314950 1:16988455-16988455
13 ATP13A2 NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)SNV Pathogenic 143196 rs199624796 1:17330894-17330894 1:17004399-17004399
14 ATP13A2 NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)deletion Pathogenic/Likely pathogenic 465253 rs765632065 1:17313567-17313567 1:16987072-16987072
15 ATP13A2 NM_022089.4(ATP13A2):c.1845+1G>ASNV Likely pathogenic 854703 1:17318980-17318980 1:16992485-16992485
16 ATP13A2 NC_000001.11:g.16991849_16991850CA[1]short repeat Likely pathogenic 873463 1:17318344-17318345 1:16991849-16991850
17 ATP13A2 NM_022089.4(ATP13A2):c.558-1G>TSNV Likely pathogenic 873473 1:17328869-17328869 1:17002374-17002374
18 ATP13A2 NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)SNV Likely pathogenic 209136 rs150519745 1:17326602-17326602 1:17000107-17000107
19 ATP13A2 NM_022089.4(ATP13A2):c.348-9_351deldeletion Conflicting interpretations of pathogenicity 209135 rs749798211 1:17331313-17331325 1:17004818-17004830
20 ATP13A2 NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)SNV Conflicting interpretations of pathogenicity 210381 rs144557304 1:17314633-17314633 1:16988138-16988138
21 ATP13A2 NM_022089.4(ATP13A2):c.106-8G>ASNV Conflicting interpretations of pathogenicity 210379 rs200587951 1:17332059-17332059 1:17005564-17005564
22 ATP13A2 NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)SNV Conflicting interpretations of pathogenicity 293789 rs750600448 1:17322564-17322564 1:16996069-16996069
23 ATP13A2 NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)SNV Conflicting interpretations of pathogenicity 293793 rs149372969 1:17322793-17322793 1:16996298-16996298
24 ATP13A2 NM_022089.4(ATP13A2):c.*130C>TSNV Conflicting interpretations of pathogenicity 293762 rs189334432 1:17312586-17312586 1:16986091-16986091
25 ATP13A2 NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)SNV Conflicting interpretations of pathogenicity 293765 rs377703085 1:17312830-17312830 1:16986335-16986335
26 ATP13A2 NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)SNV Conflicting interpretations of pathogenicity 293769 rs756650754 1:17313066-17313066 1:16986571-16986571
27 ATP13A2 NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)SNV Conflicting interpretations of pathogenicity 293786 rs369722835 1:17318796-17318796 1:16992301-16992301
28 ATP13A2 NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)SNV Conflicting interpretations of pathogenicity 293796 rs148026506 1:17322984-17322984 1:16996489-16996489
29 ATP13A2 NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)SNV Conflicting interpretations of pathogenicity 293802 rs148391179 1:17326594-17326594 1:17000099-17000099
30 ATP13A2 NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)SNV Conflicting interpretations of pathogenicity 293775 rs199994961 1:17314960-17314960 1:16988465-16988465
31 ATP13A2 NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)SNV Conflicting interpretations of pathogenicity 293799 rs148970081 1:17323582-17323582 1:16997087-16997087
32 ATP13A2 NM_022089.4(ATP13A2):c.2331C>T (p.His777=)SNV Conflicting interpretations of pathogenicity 293782 rs144708504 1:17316703-17316703 1:16990208-16990208
33 ATP13A2 NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)SNV Conflicting interpretations of pathogenicity 293787 rs200916673 1:17318817-17318817 1:16992322-16992322
34 ATP13A2 NM_022089.4(ATP13A2):c.396G>A (p.Ala132=)SNV Conflicting interpretations of pathogenicity 293803 rs140631323 1:17331268-17331268 1:17004773-17004773
35 ATP13A2 NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)SNV Conflicting interpretations of pathogenicity 590096 rs368279466 1:17332043-17332043 1:17005548-17005548
36 ATP13A2 NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)SNV Conflicting interpretations of pathogenicity 707755 1:17319059-17319059 1:16992564-16992564
37 ATP13A2 NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)SNV Conflicting interpretations of pathogenicity 705000 1:17332248-17332248 1:17005753-17005753
38 ATP13A2 NM_022089.4(ATP13A2):c.2252-8A>TSNV Conflicting interpretations of pathogenicity 704722 1:17316790-17316790 1:16990295-16990295
39 ATP13A2 NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)SNV Conflicting interpretations of pathogenicity 766995 1:17323631-17323631 1:16997136-16997136
40 ATP13A2 NM_022089.4(ATP13A2):c.42C>T (p.Thr14=)SNV Conflicting interpretations of pathogenicity 778704 1:17332242-17332242 1:17005747-17005747
41 ATP13A2 NM_022089.4(ATP13A2):c.*120A>TSNV Conflicting interpretations of pathogenicity 493023 rs41273151 1:17312596-17312596 1:16986101-16986101
42 ATP13A2 NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)SNV Conflicting interpretations of pathogenicity 533803 rs148201608 1:17313682-17313682 1:16987187-16987187
43 ATP13A2 NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)SNV Conflicting interpretations of pathogenicity 546326 rs369863178 1:17320162-17320162 1:16993667-16993667
44 ATP13A2 NM_022089.4(ATP13A2):c.477+2T>GSNV Conflicting interpretations of pathogenicity 546591 rs758014228 1:17331185-17331185 1:17004690-17004690
45 ATP13A2 NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)SNV Conflicting interpretations of pathogenicity 568939 rs201756175 1:17313049-17313049 1:16986554-16986554
46 ATP13A2 NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)SNV Conflicting interpretations of pathogenicity 585085 rs145515028 1:17326989-17326989 1:17000494-17000494
47 ATP13A2 NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)SNV Conflicting interpretations of pathogenicity 585467 rs201883464 1:17318282-17318282 1:16991787-16991787
48 ATP13A2 NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)SNV Conflicting interpretations of pathogenicity 587913 rs547860186 1:17312730-17312730 1:16986235-16986235
49 ATP13A2 NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)SNV Conflicting interpretations of pathogenicity 588527 rs115985012 1:17313021-17313021 1:16986526-16986526
50 ATP13A2 NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)SNV Conflicting interpretations of pathogenicity 593131 rs377253172 1:17313105-17313105 1:16986610-16986610

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

73
# 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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
2
Show member pathways
12.33 SNCA SLC6A3 PRKN PINK1 PARK7
3 12.03 SNCA PRKN PINK1 PARK7 LRRK2 FBXO7
4 11.02 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
5 10.96 SNCA SLC6A3 PRKN PARK7
6 10.71 PANK2 PANK1 COASY

GO Terms for Kufor-Rakeb Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.43 VPS35 SNCA SLC6A3 RAB29 PLA2G6 PINK1
2 cytoplasm GO:0005737 10.16 WDR45 VPS35 SNCA SLC6A3 RAB29 PRKN
3 endoplasmic reticulum GO:0005783 10.09 PRKN PINK1 PARK7 LRRK2 FA2H C19orf12
4 cell GO:0005623 10.05 SNCA PRKN PLA2G6 PARK7 LRRK2 ATP13A2
5 perinuclear region of cytoplasm GO:0048471 9.97 VPS35 SNCA RAB29 PRKN PINK1 PARK7
6 neuronal cell body GO:0043025 9.93 VPS35 SNCA SLC6A3 LRRK2 ATP13A2
7 axon GO:0030424 9.92 SNCA SLC6A3 PINK1 PARK7 LRRK2
8 mitochondrial matrix GO:0005759 9.85 SNCA PARK7 LRRK2 KARS1 COASY
9 cytosol GO:0005829 9.83 WDR45 VPS35 SNCA RAB29 PRKN PLA2G6
10 neuron projection GO:0043005 9.8 VPS35 SLC6A3 PRKN PARK7 LRRK2 ATP13A2
11 mitochondrial outer membrane GO:0005741 9.78 SNCA PINK1 LRRK2 COASY
12 presynapse GO:0098793 9.73 VPS35 SNCA PRKN PARK7
13 inclusion body GO:0016234 9.57 SNCA LRRK2
14 mitochondrial intermembrane space GO:0005758 9.46 SNCA PINK1 PARK7 PANK2
15 mitochondrion GO:0005739 9.44 VPS35 SNCA RAB29 PRKN PLA2G6 PINK1
16 Lewy body GO:0097413 9.4 PRKN PINK1
17 mitochondrion-derived vesicle GO:0099073 9.37 VPS35 PRKN

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10.02 VPS35 PRKN PINK1 PARK7
2 negative regulation of neuron apoptotic process GO:0043524 9.96 SNCA PRKN PINK1 PARK7
3 response to oxidative stress GO:0006979 9.95 PRKN PINK1 LRRK2 C19orf12
4 regulation of protein stability GO:0031647 9.91 VPS35 PRKN LRRK2 FBXO7
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.88 SNCA PINK1 PARK7
6 negative regulation of protein phosphorylation GO:0001933 9.88 SNCA PRKN PARK7 LRRK2
7 negative regulation of cell death GO:0060548 9.87 VPS35 PRKN PARK7
8 adult locomotory behavior GO:0008344 9.85 SNCA PRKN PARK7
9 protein destabilization GO:0031648 9.85 VPS35 SNCA PRKN
10 cellular response to oxidative stress GO:0034599 9.85 SNCA PINK1 PARK7 LRRK2 ATP13A2
11 mitochondrion organization GO:0007005 9.83 RAB29 PRKN PINK1 PARK7 LRRK2
12 regulation of reactive oxygen species metabolic process GO:2000377 9.79 SNCA PRKN PINK1
13 regulation of neuron death GO:1901214 9.78 SNCA RAB29 LRRK2
14 autophagy of mitochondrion GO:0000422 9.78 WDR45 PRKN PINK1 FBXO7
15 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 PRKN PARK7 LRRK2
16 synaptic transmission, dopaminergic GO:0001963 9.77 SNCA PRKN PARK7
17 positive regulation of mitochondrial fission GO:0090141 9.75 VPS35 PRKN PINK1
18 negative regulation of oxidative stress-induced neuron death GO:1903204 9.74 PINK1 PARK7 FBXO7
19 negative regulation of oxidative stress-induced cell death GO:1903202 9.73 PRKN PINK1 PARK7
20 regulation of neurotransmitter secretion GO:0046928 9.72 SNCA PRKN
21 regulation of protein ubiquitination GO:0031396 9.72 PRKN PINK1
22 regulation of autophagy of mitochondrion GO:1903146 9.72 PINK1 ATP13A2
23 coenzyme A biosynthetic process GO:0015937 9.72 PANK2 PANK1 COASY
24 cellular response to dopamine GO:1903351 9.71 PRKN LRRK2
25 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.71 PARK7 LRRK2
26 negative regulation of autophagosome assembly GO:1902902 9.71 PINK1 LRRK2
27 dopamine metabolic process GO:0042417 9.71 SNCA PRKN
28 negative regulation of macroautophagy GO:0016242 9.71 PINK1 LRRK2
29 cellular response to manganese ion GO:0071287 9.71 PRKN LRRK2 ATP13A2
30 regulation of mitochondrial membrane potential GO:0051881 9.71 PRKN PINK1 PARK7 PANK2
31 positive regulation of receptor recycling GO:0001921 9.7 SNCA RAB29
32 dopamine biosynthetic process GO:0042416 9.7 SNCA SLC6A3
33 regulation of dopamine metabolic process GO:0042053 9.7 SLC6A3 PRKN
34 regulation of locomotion GO:0040012 9.7 SNCA LRRK2 FBXO7
35 autophagy GO:0006914 9.7 WDR45 PRKN PINK1 PARK7 LRRK2 C19orf12
36 regulation of cellular response to oxidative stress GO:1900407 9.69 PRKN PINK1
37 regulation of protein targeting to mitochondrion GO:1903214 9.69 PRKN PINK1
38 positive regulation of autophagy of mitochondrion GO:1903599 9.69 PRKN PARK7 FBXO7
39 cellular response to toxic substance GO:0097237 9.68 PRKN PINK1
40 protein localization to mitochondrion GO:0070585 9.68 PRKN LRRK2
41 positive regulation of histone deacetylase activity GO:1901727 9.68 PINK1 LRRK2
42 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.68 PRKN PINK1
43 zinc ion homeostasis GO:0055069 9.67 PRKN ATP13A2
44 coenzyme biosynthetic process GO:0009108 9.67 PANK2 PANK1 COASY
45 regulation of mitochondrion organization GO:0010821 9.67 VPS35 PRKN PINK1 ATP13A2
46 negative regulation of lysosomal protein catabolic process GO:1905166 9.66 VPS35 ATP13A2
47 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.65 PRKN PARK7
48 positive regulation of dopamine receptor signaling pathway GO:0060161 9.65 VPS35 LRRK2
49 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.64 PINK1 PARK7
50 regulation of retrograde transport, endosome to Golgi GO:1905279 9.64 RAB29 LRRK2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.86 PINK1 PANK2 PANK1 LRRK2 KARS1 COASY
2 ubiquitin-specific protease binding GO:1990381 9.4 PRKN PARK7
3 phospholipase binding GO:0043274 9.37 SNCA PRKN
4 cuprous ion binding GO:1903136 9.32 SNCA PARK7
5 nucleotide binding GO:0000166 9.28 RAB29 PINK1 PANK2 PANK1 LRRK2 KARS1
6 cupric ion binding GO:1903135 9.16 PARK7 ATP13A2
7 pantothenate kinase activity GO:0004594 8.96 PANK2 PANK1

Sources for Kufor-Rakeb Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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