KRS
MCID: KFR001
MIFTS: 48

Kufor-Rakeb Syndrome (KRS)

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

Aliases & Classifications for Kufor-Rakeb Syndrome

MalaCards integrated aliases for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 58 12 77 60 76 38 45 15 74
Parkinson Disease 9 76 30 13 6
Park9 58 60 76
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 58 76
Krppd 58 76
Krs 58 76
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia; Krppd 58
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset; Park9 58
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset 58
Autosomal Recessive Juvenile Onset Parkinson Disease 9 12
Autosomal Recessive Parkinson Disease 9 12
Parkinson Disease Autosomal Recessive 9 76

Characteristics:

Orphanet epidemiological data:

60
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult;

OMIM:

58
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:

33
kufor-rakeb syndrome:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kufor-Rakeb Syndrome

OMIM : 58 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 parkinson disease 9, is related to neurodegeneration with brain iron accumulation 1 and neurodegeneration with brain iron accumulation, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. Affiliated tissues include brain, eye and tongue, and related phenotypes are babinski sign and rigidity

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 : 76 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 : 77 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 55)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 31.5 FA2H PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 29.3 ATP13A2 FA2H PANK2 PLA2G6
3 dystonia 29.0 FA2H PANK2 PLA2G6
4 parkinson disease type 9 12.1
5 spastic paraplegia 78, autosomal recessive 11.5
6 dementia 10.6
7 ataxia and polyneuropathy, adult-onset 10.4
8 myoclonus 10.4
9 streptococcal group a invasive disease 10.3
10 blood group, gerbich system 10.2
11 pemphigus foliaceus 10.2
12 retinoblastoma 10.2
13 long qt syndrome 10.2
14 cardiac arrhythmia 10.1
15 nevus comedonicus 10.1
16 keratoconus 10.1
17 amyotrophic lateral sclerosis 1 10.0
18 intermittent claudication 10.0
19 lateral sclerosis 10.0
20 movement disease 10.0
21 hypoxia 10.0
22 spinocerebellar ataxia, autosomal recessive 21 10.0 ATP13A2 FA2H
23 spastic paraplegia 73, autosomal dominant 10.0 ATP13A2 FA2H
24 spastic paraplegia 76, autosomal recessive 9.9 ATP13A2 FA2H
25 leukemia, chronic lymphocytic 2 9.9
26 leukemia, chronic lymphocytic 9.9
27 disorganization, mouse, homolog of 9.9
28 retinitis pigmentosa 9.9
29 blood group--swann system 9.9
30 immunodeficiency-centromeric instability-facial anomalies syndrome 3 9.9
31 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
32 central centrifugal cicatricial alopecia 9.9
33 hemolytic anemia 9.9
34 leukemia 9.9
35 short qt syndrome 9.9
36 lymphocytic leukemia 9.9
37 disease of mental health 9.9
38 oropharynx cancer 9.9
39 rem sleep behavior disorder 9.9
40 leukemia, b-cell, chronic 9.9
41 polymyositis 9.9
42 depression 9.9
43 pain - chronic 9.9
44 neurodegeneration with brain iron accumulation 4 9.8 PANK2 PLA2G6
45 neurodegeneration with brain iron accumulation 5 9.8 PANK2 PLA2G6
46 neurodegeneration with brain iron accumulation 6 9.8 PANK2 PLA2G6
47 leukodystrophy, hypomyelinating, 2 9.7 FA2H PANK2
48 hereditary spastic paraplegia 9.6 ATP13A2 FA2H PLA2G6
49 neurodegeneration with brain iron accumulation 2a 9.5 FA2H PANK2 PLA2G6
50 neurodegeneration with brain iron accumulation 3 9.5 FA2H PANK2 PLA2G6

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:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
2 rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002063
3 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
4 hyperreflexia in upper limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0007350
5 parkinsonism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001300
6 slow saccadic eye movements 60 33 hallmark (90%) Very frequent (99-80%) HP:0000514
7 dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0100660
8 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
9 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
10 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
11 confusion 60 33 frequent (33%) Frequent (79-30%) HP:0001289
12 visual hallucinations 60 33 frequent (33%) Frequent (79-30%) HP:0002367
13 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
14 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
15 abnormality of finger 60 33 frequent (33%) Frequent (79-30%) HP:0001167
16 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
17 anarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002425
18 leg muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0008969
19 hypomimic face 60 33 frequent (33%) Frequent (79-30%) HP:0000338
20 oculogyric crisis 60 33 frequent (33%) Frequent (79-30%) HP:0010553
21 difficulty in tongue movements 60 33 frequent (33%) Frequent (79-30%) HP:0000183
22 short attention span 60 33 frequent (33%) Frequent (79-30%) HP:0000736
23 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
24 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
25 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
26 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
27 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
28 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
29 generalized muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003324
30 abnormality of the foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001760
31 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
32 bradykinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002067
33 apathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000741
34 hyperactive patellar reflex 60 33 occasional (7.5%) Occasional (29-5%) HP:0007083
35 eyelid apraxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000658
36 vertical supranuclear gaze palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000511
37 stooped posture 60 33 occasional (7.5%) Occasional (29-5%) HP:0025403
38 lingual dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0031008
39 seizures 33 occasional (7.5%) HP:0001250
40 distal sensory impairment 33 occasional (7.5%) HP:0002936
41 gait disturbance 60 33 Occasional (29-5%) HP:0001288
42 supranuclear gaze palsy 60 33 Very frequent (99-80%) HP:0000605
43 ataxia 33 HP:0001251
44 spasticity 33 HP:0001257
45 tremor 33 HP:0001337
46 hyperreflexia 33 HP:0001347
47 abnormal pyramidal sign 60 Very frequent (99-80%)
48 hallucinations 33 HP:0000738
49 mask-like facies 33 HP:0000298
50 psychotic episodes 33 HP:0000725

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
tremor
hyperreflexia
myoclonus
more
Head And Neck Face:
mask-like facies

Head And Neck Nose:
anosmia
hyposmia

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

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
psychotic episodes
aggression

Head And Neck Neck:
torticollis

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

MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 ATP13A5 FBXO7 PANK2 PLA2G6
2 immune system MP:0005387 8.92 ATP13A5 FBXO7 PANK2 PLA2G6

Drugs & Therapeutics for Kufor-Rakeb Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Parkinson Disease 9 30 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

42
Brain, Eye, Tongue, B Cells

Publications for Kufor-Rakeb Syndrome

Articles related to Kufor-Rakeb Syndrome:

(show all 23)
# Title Authors Year
1
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. ( 29966207 )
2018
2
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers. ( 30746398 )
2018
3
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome. ( 30868101 )
2018
4
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. ( 27039055 )
2016
5
Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report. ( 27673054 )
2016
6
First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene. ( 30838237 )
2015
7
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. ( 23630171 )
2013
8
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. ( 23279440 )
2013
9
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). ( 21696388 )
2012
10
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. ( 22117566 )
2012
11
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. ( 22296644 )
2012
12
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. ( 22388936 )
2012
13
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. ( 21094623 )
2011
14
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. ( 21542062 )
2011
15
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. ( 21724849 )
2011
16
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. ( 20853184 )
2011
17
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. ( 20683840 )
2010
18
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. ( 20310007 )
2010
19
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. ( 17485642 )
2007
20
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. ( 16964263 )
2006
21
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. ( 11584046 )
2001
22
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. ( 8085432 )
1994
23
Familial juvenile Parkinsonism. ( 495089 )
1979

Variations for Kufor-Rakeb Syndrome

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

76
# 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 top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh38 Chromosome 1, 16996381: 16996381
2 ATP13A2 ATP13A2, 22-BP DUP duplication Pathogenic
3 ATP13A2 ATP13A2, 1-BP DEL, 3057C deletion Pathogenic
4 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh37 Chromosome 1, 17322876: 17322876
5 ATP13A2 NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg) single nucleotide variant Pathogenic rs121918227 GRCh37 Chromosome 1, 17322503: 17322503
6 ATP13A2 NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg) single nucleotide variant Pathogenic rs121918227 GRCh38 Chromosome 1, 16996008: 16996008
7 ATP13A2 NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs) duplication Pathogenic rs762033589 GRCh37 Chromosome 1, 17323608: 17323609
8 ATP13A2 NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs) duplication Pathogenic rs762033589 GRCh38 Chromosome 1, 16997113: 16997114
9 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553del (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh37 Chromosome 1, 17316242: 17316243
10 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553del (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh38 Chromosome 1, 16989747: 16989748
11 ATP13A2 NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg) single nucleotide variant Pathogenic rs587777053 GRCh37 Chromosome 1, 17316234: 17316234
12 ATP13A2 NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg) single nucleotide variant Pathogenic rs587777053 GRCh38 Chromosome 1, 16989739: 16989739
13 ATP13A2 NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg) single nucleotide variant Pathogenic rs144701072 GRCh37 Chromosome 1, 17314950: 17314950
14 ATP13A2 NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg) single nucleotide variant Pathogenic rs144701072 GRCh38 Chromosome 1, 16988455: 16988455
15 ATP13A2 NM_022089.3(ATP13A2): c.1005C> T (p.Ala335=) single nucleotide variant Benign/Likely benign rs56290406 GRCh37 Chromosome 1, 17326540: 17326540
16 ATP13A2 NM_022089.3(ATP13A2): c.1005C> T (p.Ala335=) single nucleotide variant Benign/Likely benign rs56290406 GRCh38 Chromosome 1, 17000045: 17000045
17 ATP13A2 NM_022089.3(ATP13A2): c.1617G> T (p.Leu539=) single nucleotide variant Benign/Likely benign rs61739752 GRCh37 Chromosome 1, 17320256: 17320256
18 ATP13A2 NM_022089.3(ATP13A2): c.1617G> T (p.Leu539=) single nucleotide variant Benign/Likely benign rs61739752 GRCh38 Chromosome 1, 16993761: 16993761
19 ATP13A2 NM_022089.3(ATP13A2): c.1815C> T (p.Pro605=) single nucleotide variant Benign rs2076603 GRCh37 Chromosome 1, 17319011: 17319011
20 ATP13A2 NM_022089.3(ATP13A2): c.1815C> T (p.Pro605=) single nucleotide variant Benign rs2076603 GRCh38 Chromosome 1, 16992516: 16992516
21 ATP13A2 NM_022089.3(ATP13A2): c.2637C> T (p.Gly879=) single nucleotide variant Benign rs9435662 GRCh37 Chromosome 1, 17314942: 17314942
22 ATP13A2 NM_022089.3(ATP13A2): c.2637C> T (p.Gly879=) single nucleotide variant Benign rs9435662 GRCh38 Chromosome 1, 16988447: 16988447
23 ATP13A2 NM_022089.3(ATP13A2): c.2724G> A (p.Ser908=) single nucleotide variant Benign/Likely benign rs79724242 GRCh37 Chromosome 1, 17314855: 17314855
24 ATP13A2 NM_022089.3(ATP13A2): c.2724G> A (p.Ser908=) single nucleotide variant Benign/Likely benign rs79724242 GRCh38 Chromosome 1, 16988360: 16988360
25 ATP13A2 NM_022089.3(ATP13A2): c.2790G> A (p.Ser930=) single nucleotide variant Benign rs3738815 GRCh37 Chromosome 1, 17314702: 17314702
26 ATP13A2 NM_022089.3(ATP13A2): c.2790G> A (p.Ser930=) single nucleotide variant Benign rs3738815 GRCh38 Chromosome 1, 16988207: 16988207
27 ATP13A2 NM_022089.3(ATP13A2): c.2836A> T (p.Ile946Phe) single nucleotide variant Uncertain significance rs55708915 GRCh37 Chromosome 1, 17314656: 17314656
28 ATP13A2 NM_022089.3(ATP13A2): c.2836A> T (p.Ile946Phe) single nucleotide variant Uncertain significance rs55708915 GRCh38 Chromosome 1, 16988161: 16988161
29 ATP13A2 NM_022089.3(ATP13A2): c.2970G> A (p.Val990=) single nucleotide variant Benign rs761421 GRCh37 Chromosome 1, 17313654: 17313654
30 ATP13A2 NM_022089.3(ATP13A2): c.2970G> A (p.Val990=) single nucleotide variant Benign rs761421 GRCh38 Chromosome 1, 16987159: 16987159
31 ATP13A2 NM_022089.3(ATP13A2): c.3084-3C> T single nucleotide variant Benign rs7531163 GRCh37 Chromosome 1, 17313454: 17313454
32 ATP13A2 NM_022089.3(ATP13A2): c.3084-3C> T single nucleotide variant Benign rs7531163 GRCh38 Chromosome 1, 16986959: 16986959
33 ATP13A2 NM_022089.3(ATP13A2): c.3144C> G (p.Thr1048=) single nucleotide variant Benign/Likely benign rs56126202 GRCh37 Chromosome 1, 17313391: 17313391
34 ATP13A2 NM_022089.3(ATP13A2): c.3144C> G (p.Thr1048=) single nucleotide variant Benign/Likely benign rs56126202 GRCh38 Chromosome 1, 16986896: 16986896
35 ATP13A2 NM_022089.3(ATP13A2): c.3192C> T (p.Ala1064=) single nucleotide variant Benign rs9435659 GRCh37 Chromosome 1, 17313343: 17313343
36 ATP13A2 NM_022089.3(ATP13A2): c.3192C> T (p.Ala1064=) single nucleotide variant Benign rs9435659 GRCh38 Chromosome 1, 16986848: 16986848
37 ATP13A2 NM_001141974.2(ATP13A2): c.3214G> A (p.Ala1072Thr) single nucleotide variant Benign rs3170740 GRCh37 Chromosome 1, 17312743: 17312743
38 ATP13A2 NM_001141974.2(ATP13A2): c.3214G> A (p.Ala1072Thr) single nucleotide variant Benign rs3170740 GRCh38 Chromosome 1, 16986248: 16986248
39 ATP13A2 NM_022089.3(ATP13A2): c.881G> A (p.Arg294Gln) single nucleotide variant Benign rs56367069 GRCh37 Chromosome 1, 17326767: 17326767
40 ATP13A2 NM_022089.3(ATP13A2): c.881G> A (p.Arg294Gln) single nucleotide variant Benign rs56367069 GRCh38 Chromosome 1, 17000272: 17000272
41 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh37 Chromosome 1, 17330894: 17330894
42 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh38 Chromosome 1, 17004399: 17004399
43 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh37 Chromosome 1, 17323505: 17323505
44 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh38 Chromosome 1, 16997010: 16997010
45 ATP13A2 NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg) single nucleotide variant Likely pathogenic rs150519745 GRCh37 Chromosome 1, 17326602: 17326602
46 ATP13A2 NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg) single nucleotide variant Likely pathogenic rs150519745 GRCh38 Chromosome 1, 17000107: 17000107
47 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Conflicting interpretations of pathogenicity rs749798211 GRCh37 Chromosome 1, 17331313: 17331325
48 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Conflicting interpretations of pathogenicity rs749798211 GRCh38 Chromosome 1, 17004818: 17004830
49 ATP13A2 NM_022089.3(ATP13A2): c.2859G> A (p.Thr953=) single nucleotide variant Uncertain significance rs144557304 GRCh37 Chromosome 1, 17314633: 17314633
50 ATP13A2 NM_022089.3(ATP13A2): c.2859G> A (p.Thr953=) single nucleotide variant Uncertain significance rs144557304 GRCh38 Chromosome 1, 16988138: 16988138

Expression for Kufor-Rakeb Syndrome

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

Pathways for Kufor-Rakeb Syndrome

GO Terms for Kufor-Rakeb Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.1 ATP13A1 ATP13A2 ATP13A5 FA2H PANK2 PLA2G6

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 ATP13A1 ATP13A2 ATP13A5
2 cellular calcium ion homeostasis GO:0006874 9.33 ATP13A1 ATP13A2 ATP13A5
3 negative regulation of neuron death GO:1901215 9.32 ATP13A2 FBXO7
4 cation transport GO:0006812 9.13 ATP13A1 ATP13A2 ATP13A5
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.62 ATP13A1 ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 ATP13A1 ATP13A2 ATP13A5 PLA2G6
2 ATP binding GO:0005524 9.46 ATP13A1 ATP13A2 ATP13A5 PANK2
3 ATPase activity GO:0016887 9.13 ATP13A1 ATP13A2 ATP13A5
4 cation-transporting ATPase activity GO:0019829 8.32 ATP13A2

Sources for Kufor-Rakeb Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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