KRS
MCID: KFR001
MIFTS: 47

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 57 12 76 59 75 37 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:



Summaries for Kufor-Rakeb Syndrome

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 neurodegeneration with brain iron accumulation, and has symptoms including ataxia, tremor and abnormal pyramidal signs. 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´┐Ż??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 all 39)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 1 31.9 PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 29.9 ATP13A2 PANK2 PLA2G6
3 parkinson disease type 9 12.0
4 spastic paraplegia 78, autosomal recessive 11.5
5 chancroid 11.1
6 dementia 10.6
7 pemphigus foliaceus 10.2
8 cardiac arrhythmia 10.1
9 long qt syndrome 10.1
10 movement disease 10.0
11 dystonia 10.0
12 hypoxia 10.0
13 leukemia, chronic lymphocytic 2 9.9
14 leukemia, chronic lymphocytic 9.9
15 retinoblastoma 9.9
16 disorganization, mouse, homolog of 9.9
17 retinitis pigmentosa 9.9
18 blood group--swann system 9.9
19 hemolytic anemia 9.9
20 leukemia 9.9
21 short qt syndrome 9.9
22 lymphocytic leukemia 9.9
23 oropharynx cancer 9.9
24 rem sleep behavior disorder 9.9
25 leukemia, b-cell, chronic 9.9
26 polymyositis 9.9
27 streptococcal group a invasive disease 9.9
28 pain - chronic 9.9
29 neurodegeneration with brain iron accumulation 2a 9.9 PANK2 PLA2G6
30 neurodegeneration with brain iron accumulation 4 9.9 PANK2 PLA2G6
31 neurodegeneration with brain iron accumulation 5 9.8 PANK2 PLA2G6
32 neurodegeneration with brain iron accumulation 3 9.8 PANK2 PLA2G6
33 neuroaxonal dystrophy 9.8 PANK2 PLA2G6
34 neurodegeneration with brain iron accumulation 6 9.8 PANK2 PLA2G6
35 aceruloplasminemia 9.7 ATP13A2 PANK2 PLA2G6
36 neurodegeneration with brain iron accumulation 2b 9.7 FBXO7 PANK2 PLA2G6
37 3-methylglutaconic aciduria, type iii 9.7 PANK2 PLA2G6
38 parkinson disease 15, autosomal recessive early-onset 9.6 ATP13A2 FBXO7 PANK2 PLA2G6
39 juvenile-onset parkinson's disease 9.2 ATP13A1 ATP13A2 ATP13A5 ATP1B4 FBXO7 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

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 hyperreflexia in upper limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007350
23 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
24 confusion 59 32 frequent (33%) Frequent (79-30%) HP:0001289
25 parkinsonism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001300
26 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
27 anarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002425
28 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
29 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
30 slow saccadic eye movements 59 32 hallmark (90%) Very frequent (99-80%) HP:0000514
31 visual hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0002367
32 hyperactive patellar reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0007083
33 eyelid apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000658
34 supranuclear gaze palsy 59 32 Very frequent (99-80%) HP:0000605
35 oculogyric crisis 59 32 frequent (33%) Frequent (79-30%) HP:0010553
36 vertical supranuclear gaze palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000511
37 difficulty in tongue movements 59 32 frequent (33%) Frequent (79-30%) HP:0000183
38 stooped posture 59 32 occasional (7.5%) Occasional (29-5%) HP:0025403
39 lingual dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0031008
40 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
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, tremor, abnormal pyramidal signs, myoclonus, abnormality of extrapyramidal motor function, torticollis, hyposmia, muscle rigidity

MGI Mouse Phenotypes related to Kufor-Rakeb Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 ATP13A2 ATP13A5 FBXO7 PANK2 PLA2G6
2 immune system MP:0005387 9.02 ATP13A2 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 29 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

41
Brain, Eye, Tongue, B Cells

Publications for Kufor-Rakeb Syndrome

Articles related to Kufor-Rakeb Syndrome:

(show all 12)
# Title Authors Year
1
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. ( 29966207 )
2018
2
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. ( 27039055 )
2016
3
Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report. ( 27673054 )
2016
4
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. ( 23630171 )
2013
5
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. ( 22117566 )
2012
6
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). ( 21696388 )
2012
7
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. ( 22296644 )
2012
8
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. ( 21724849 )
2011
9
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. ( 21542062 )
2011
10
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. ( 20683840 )
2010
11
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. ( 11584046 )
2001
12
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:

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 244)
# 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.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_022089.3(ATP13A2): c.3516G> A (p.Pro1172=) single nucleotide variant Benign rs3170740 GRCh37 Chromosome 1, 17312743: 17312743
38 ATP13A2 NM_022089.3(ATP13A2): c.3516G> A (p.Pro1172=) 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 ATP1B4 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 8.8 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 9.56 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 8.62 ATP13A2 ATP13A5

Sources for Kufor-Rakeb Syndrome

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17 ExPASy
19 FMA
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62 PubMed
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71 TGDB
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74 UMLS via Orphanet
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