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MCID: KFR001
MIFTS: 46

Kufor-Rakeb Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Kufor-Rakeb Syndrome

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MalaCards integrated aliases for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 57 12 76 59 75 44 15 73
Parkinson Disease 9 75 29 13 6
Park9 57 59 75
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 57 75
Krppd 57 75
Krs 57 75
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia; Krppd 57
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset; Park9 57
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset 57
Autosomal Recessive Juvenile Onset Parkinson Disease 9 12
Autosomal Recessive Parkinson Disease 9 12
Parkinson Disease Autosomal Recessive 9 75

Characteristics:

Orphanet epidemiological data:

59
kufor-rakeb syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adult;

OMIM:

57
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:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases


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Summaries for Kufor-Rakeb Syndrome

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OMIM : 57 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 parkinson disease type 9, and has symptoms including ataxia, muscle rigidity 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 nystagmus and dysarthria

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 : 75 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 : 76 Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson... more...

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Related Diseases for Kufor-Rakeb Syndrome

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 31.1 PANK2 PLA2G6
2 parkinson disease type 9 11.9
3 spastic paraplegia 78, autosomal recessive 11.3
4 dementia 10.4
5 neurodegeneration with brain iron accumulation 4 9.6 PANK2 PLA2G6
6 neurodegeneration with brain iron accumulation 5 9.5 PANK2 PLA2G6
7 neurodegeneration with brain iron accumulation 3 9.5 PANK2 PLA2G6
8 neuroaxonal dystrophy 9.3 PANK2 PLA2G6
9 neurodegeneration with brain iron accumulation 6 9.2 PANK2 PLA2G6
10 neurodegeneration with brain iron accumulation 9.2 ATP13A2 PANK2 PLA2G6
11 aceruloplasminemia 9.1 ATP13A2 PANK2 PLA2G6
12 neurodegeneration with brain iron accumulation 2b 9.1 FBXO7 PANK2 PLA2G6
13 parkinson disease 15, autosomal recessive early-onset 8.7 ATP13A2 FBXO7 PANK2 PLA2G6
14 neurodegeneration with brain iron accumulation 2a 8.7 ATP13A2 FBXO7 PANK2 PLA2G6
15 trehalase deficiency 8.5 ATP13A2 PANK2 PLA2G6
16 juvenile-onset parkinson's disease 7.5 ATP13A1 ATP13A2 ATP13A5 ATP1B4 FBXO7 PLA2G6

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



Diseases related to Kufor-Rakeb Syndrome
Sources

Symptoms & Phenotypes for Kufor-Rakeb Syndrome

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Kufor-Rakeb Syndrome:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 gait disturbance 59 32 Occasional (29-5%) HP:0001288
4 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
5 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
6 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
7 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
8 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
9 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
10 generalized muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003324
11 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
12 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
13 abnormality of the foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001760
14 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
15 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
16 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
17 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
18 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
19 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
20 abnormality of finger 59 32 frequent (33%) Frequent (79-30%) HP:0001167
21 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
22 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
23 confusion 59 32 frequent (33%) Frequent (79-30%) HP:0001289
24 parkinsonism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001300
25 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
26 anarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002425
27 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
28 hyperactive patellar reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0007083
29 hyperreflexia in upper limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007350
30 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
31 eyelid apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000658
32 supranuclear gaze palsy 59 32 Very frequent (99-80%) HP:0000605
33 oculogyric crisis 59 32 frequent (33%) Frequent (79-30%) HP:0010553
34 vertical supranuclear gaze palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000511
35 slow saccadic eye movements 59 32 hallmark (90%) Very frequent (99-80%) HP:0000514
36 difficulty in tongue movements 59 32 frequent (33%) Frequent (79-30%) HP:0000183
37 lingual dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0031008
38 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
39 visual hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0002367
40 stooped posture 59 32 occasional (7.5%) Occasional (29-5%) HP:0025403
41 seizures 32 occasional (7.5%) HP:0001250
42 ataxia 32 HP:0001251
43 spasticity 32 HP:0001257
44 tremor 32 HP:0001337
45 hyperreflexia 32 HP:0001347
46 abnormal pyramidal signs 59 Very frequent (99-80%)
47 hallucinations 32 HP:0000738
48 mask-like facies 32 HP:0000298
49 psychotic episodes 32 HP:0000725
50 aggressive behavior 32 HP:0000718

UMLS symptoms related to Kufor-Rakeb Syndrome:


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

MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.02 ATP13A2 ATP13A5 FBXO7 PANK2 PLA2G6
Sources

Drugs & Therapeutics for Kufor-Rakeb Syndrome

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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

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Genetic Tests for Kufor-Rakeb Syndrome

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Genetic tests related to Kufor-Rakeb Syndrome:

# Genetic test Affiliating Genes
1 Parkinson Disease 9 29 ATP13A2
Sources

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

41
Brain, Eye, Tongue
Sources

Publications for Kufor-Rakeb Syndrome

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Articles related to Kufor-Rakeb Syndrome:

(show all 11)
# Title Authors Year
1
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. ( 27039055 )
2016
2
Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report. ( 27673054 )
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
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). ( 21696388 )
2012
6
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. ( 22296644 )
2012
7
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. ( 21724849 )
2011
8
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. ( 21542062 )
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
Sources

Variations for Kufor-Rakeb Syndrome

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

75
# 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 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP13A2 NM_022089.3(ATP13A2): c.1306+5G> A single nucleotide variant Pathogenic rs786205056 GRCh37 Chromosome 1, 17322876: 17322876
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 ATP13A2, 1-BP DEL, 3057C deletion Pathogenic
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_2553delTT (p.Phe851Cysfs) deletion Pathogenic rs587776890 GRCh37 Chromosome 1, 17316242: 17316243
10 ATP13A2 NM_022089.3(ATP13A2): c.2552_2553delTT (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.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh37 Chromosome 1, 17330894: 17330894
16 ATP13A2 NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs199624796 GRCh38 Chromosome 1, 17004399: 17004399
17 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh37 Chromosome 1, 17323505: 17323505
18 ATP13A2 NM_022089.3(ATP13A2): c.1195+10G> A single nucleotide variant Benign/Likely benign rs55689004 GRCh38 Chromosome 1, 16997010: 16997010
19 ATP13A2 NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg) single nucleotide variant Likely pathogenic rs150519745 GRCh37 Chromosome 1, 17326602: 17326602
20 ATP13A2 NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg) single nucleotide variant Likely pathogenic rs150519745 GRCh38 Chromosome 1, 17000107: 17000107
21 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Conflicting interpretations of pathogenicity rs749798211 GRCh37 Chromosome 1, 17331313: 17331325
22 ATP13A2 NM_022089.3(ATP13A2): c.348-9_351del deletion Conflicting interpretations of pathogenicity rs749798211 GRCh38 Chromosome 1, 17004818: 17004830
23 ATP13A2 NM_022089.3(ATP13A2): c.2859G> A (p.Thr953=) single nucleotide variant Uncertain significance rs144557304 GRCh37 Chromosome 1, 17314633: 17314633
24 ATP13A2 NM_022089.3(ATP13A2): c.2859G> A (p.Thr953=) single nucleotide variant Uncertain significance rs144557304 GRCh38 Chromosome 1, 16988138: 16988138
25 ATP13A2 NM_022089.3(ATP13A2): c.106-8G> A single nucleotide variant Uncertain significance rs200587951 GRCh37 Chromosome 1, 17332059: 17332059
26 ATP13A2 NM_022089.3(ATP13A2): c.106-8G> A single nucleotide variant Uncertain significance rs200587951 GRCh38 Chromosome 1, 17005564: 17005564
27 ATP13A2 NM_022089.3(ATP13A2): c.1614C> T (p.Pro538=) single nucleotide variant Benign rs56351817 GRCh38 Chromosome 1, 16993764: 16993764
28 ATP13A2 NM_022089.3(ATP13A2): c.1614C> T (p.Pro538=) single nucleotide variant Benign rs56351817 GRCh37 Chromosome 1, 17320259: 17320259
29 ATP13A2 NM_022089.3(ATP13A2): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs200816691 GRCh38 Chromosome 1, 17005530: 17005530
30 ATP13A2 NM_022089.3(ATP13A2): c.132A> G (p.Pro44=) single nucleotide variant Benign/Likely benign rs200816691 GRCh37 Chromosome 1, 17332025: 17332025
31 ATP13A2 NM_022089.3(ATP13A2): c.*124C> T single nucleotide variant Benign rs15786 GRCh38 Chromosome 1, 16986097: 16986097
32 ATP13A2 NM_022089.3(ATP13A2): c.*124C> T single nucleotide variant Benign rs15786 GRCh37 Chromosome 1, 17312592: 17312592
33 ATP13A2 NM_022089.3(ATP13A2): c.3406-14C> T single nucleotide variant Uncertain significance rs139088170 GRCh38 Chromosome 1, 16986372: 16986372
34 ATP13A2 NM_022089.3(ATP13A2): c.3406-14C> T single nucleotide variant Uncertain significance rs139088170 GRCh37 Chromosome 1, 17312867: 17312867
35 ATP13A2 NM_022089.3(ATP13A2): c.2808C> T (p.Tyr936=) single nucleotide variant Uncertain significance rs886045578 GRCh38 Chromosome 1, 16988189: 16988189
36 ATP13A2 NM_022089.3(ATP13A2): c.2808C> T (p.Tyr936=) single nucleotide variant Uncertain significance rs886045578 GRCh37 Chromosome 1, 17314684: 17314684
37 ATP13A2 NM_022089.3(ATP13A2): c.2563G> A (p.Ala855Thr) single nucleotide variant Uncertain significance rs886045579 GRCh37 Chromosome 1, 17316232: 17316232
38 ATP13A2 NM_022089.3(ATP13A2): c.2563G> A (p.Ala855Thr) single nucleotide variant Uncertain significance rs886045579 GRCh38 Chromosome 1, 16989737: 16989737
39 ATP13A2 NM_022089.3(ATP13A2): c.2529+9G> A single nucleotide variant Uncertain significance rs200809857 GRCh37 Chromosome 1, 17316373: 17316373
40 ATP13A2 NM_022089.3(ATP13A2): c.2529+9G> A single nucleotide variant Uncertain significance rs200809857 GRCh38 Chromosome 1, 16989878: 16989878
41 ATP13A2 NM_022089.3(ATP13A2): c.2407G> A (p.Val803Ile) single nucleotide variant Uncertain significance rs747785443 GRCh37 Chromosome 1, 17316627: 17316627
42 ATP13A2 NM_022089.3(ATP13A2): c.2407G> A (p.Val803Ile) single nucleotide variant Uncertain significance rs747785443 GRCh38 Chromosome 1, 16990132: 16990132
43 ATP13A2 NM_022089.3(ATP13A2): c.2406C> T (p.Gly802=) single nucleotide variant Uncertain significance rs886045580 GRCh37 Chromosome 1, 17316628: 17316628
44 ATP13A2 NM_022089.3(ATP13A2): c.2406C> T (p.Gly802=) single nucleotide variant Uncertain significance rs886045580 GRCh38 Chromosome 1, 16990133: 16990133
45 ATP13A2 NM_022089.3(ATP13A2): c.2381T> C (p.Met794Thr) single nucleotide variant Uncertain significance rs151222153 GRCh37 Chromosome 1, 17316653: 17316653
46 ATP13A2 NM_022089.3(ATP13A2): c.2381T> C (p.Met794Thr) single nucleotide variant Uncertain significance rs151222153 GRCh38 Chromosome 1, 16990158: 16990158
47 ATP13A2 NM_022089.3(ATP13A2): c.2285G> A (p.Arg762Gln) single nucleotide variant Uncertain significance rs766899425 GRCh37 Chromosome 1, 17316749: 17316749
48 ATP13A2 NM_022089.3(ATP13A2): c.2285G> A (p.Arg762Gln) single nucleotide variant Uncertain significance rs766899425 GRCh38 Chromosome 1, 16990254: 16990254
49 ATP13A2 NM_022089.3(ATP13A2): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs750600448 GRCh37 Chromosome 1, 17322564: 17322564
50 ATP13A2 NM_022089.3(ATP13A2): c.1449C> T (p.Tyr483=) single nucleotide variant Uncertain significance rs750600448 GRCh38 Chromosome 1, 16996069: 16996069
Sources

Expression for Kufor-Rakeb Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 11.86 ATP13A1 ATP13A2 ATP13A5
2
Ion channel transport 66
Show member pathways
 11.29 ATP13A1 ATP13A2 ATP13A5
Sources

GO Terms for Kufor-Rakeb Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.92 ATP13A1 ATP13A2 ATP13A5 ATP1B4

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 9.5 ATP13A1 ATP13A2 ATP13A5
2 calcium ion transmembrane transport GO:0070588 9.43 ATP13A1 ATP13A2 ATP13A5
3 negative regulation of neuron death GO:1901215 9.37 ATP13A2 FBXO7
4 cellular calcium ion homeostasis GO:0006874 9.33 ATP13A1 ATP13A2 ATP13A5
5 cation transport GO:0006812 9.13 ATP13A1 ATP13A2 ATP13A5
6 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.8 ATP13A1 ATP13A2 ATP13A5

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 9.62 ATP13A1 ATP13A2 ATP13A5 PLA2G6
2 ATP binding GO:0005524 9.56 ATP13A1 ATP13A2 ATP13A5 PANK2
3 ATPase activity GO:0016887 9.33 ATP13A1 ATP13A2 ATP13A5
4 cation-transporting ATPase activity GO:0019829 9.13 ATP13A1 ATP13A2 ATP13A5
5 calcium-transporting ATPase activity GO:0005388 8.8 ATP13A1 ATP13A2 ATP13A5
Sources

Sources for Kufor-Rakeb Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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